AARS2
alanyl-tRNA synthetase 2, mitochondrial
Summary
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
Known Variants515 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs546498237 | 6:44,266,473 | G/A | — | uncertain significance |
| rs140886261 | 6:44,266,564 | G/A | — | uncertain significance |
| rs79454687 | 6:44,266,565 | A/G | — | benign |
| rs1056093 | 6:44,266,574 | A/C | — | benign |
| rs767571924 | 6:44,266,578 | G/A | — | uncertain significance |
| rs886061479 | 6:44,266,681 | G/C | — | uncertain significance |
| rs1056092 | 6:44,266,708 | T/C | — | benign |
| rs886061480 | 6:44,266,735 | G/A | — | uncertain significance |
| rs548185310 | 6:44,266,748 | C/G | — | uncertain significance |
| rs886061481 | 6:44,266,799 | C/T | — | uncertain significance |
| rs116579451 | 6:44,266,811 | C/A | — | benign |
| rs996356800 | 6:44,266,813 | G/A | — | uncertain significance |
| rs534416 | 6:44,266,925 | T/C | — | benign |
| rs370057942 | 6:44,266,958 | T/C | — | uncertain significance |
| rs553722790 | 6:44,266,974 | A/G | — | uncertain significance |
| rs1123523 | 6:44,266,984 | G/A | — | benign |
| rs1054092802 | 6:44,266,991 | T/C | — | uncertain significance |
| rs886061482 | 6:44,267,032 | T/G | — | uncertain significance |
| rs1009499618 | 6:44,267,087 | G/A | — | uncertain significance |
| rs527281365 | 6:44,267,239 | C/T | — | uncertain significance |
| rs538721769 | 6:44,267,277 | T/C | — | likely benign |
| rs146753959 | 6:44,267,287 | C/A | — | uncertain significance |
| rs192274662 | 6:44,267,302 | C/T | — | uncertain significance |
| rs76458008 | 6:44,267,358 | G/A | — | benign |
| rs751745102 | 6:44,267,531 | G/C | — | uncertain significance |
| rs1027113180 | 6:44,267,532 | C/G | — | uncertain significance |
| rs140359685 | 6:44,267,566 | G/T | — | uncertain significance |
| rs764440099 | 6:44,267,601 | G/C | — | uncertain significance |
| rs539810987 | 6:44,267,657 | C/T | — | uncertain significance |
| rs565803591 | 6:44,267,836 | C/A | — | uncertain significance |
| rs325011 | 6:44,267,861 | C/T | — | benign |
| rs780339845 | 6:44,267,876 | C/G | — | uncertain significance |
| rs545769603 | 6:44,267,890 | G/T | — | uncertain significance |
| rs325010 | 6:44,267,918 | A/G | — | benign |
| rs149050034 | 6:44,267,941 | C/T | — | benign |
| rs4714775 | 6:44,267,943 | C/T | — | benign |
| rs1468335658 | 6:44,267,967 | C/T | — | uncertain significance |
| rs886061483 | 6:44,268,005 | C/T | — | uncertain significance |
| rs886061484 | 6:44,268,022 | A/G | — | uncertain significance |
| rs182434401 | 6:44,268,028 | T/C | — | uncertain significance |
| rs1785260425 | 6:44,268,129 | G/A | — | uncertain significance |
| rs325009 | 6:44,268,135 | C/T | — | benign |
| rs765200517 | 6:44,268,233 | A/G | — | uncertain significance |
| rs772455600 | 6:44,268,275 | G/A | — | conflicting classifications of pathogenicity |
| rs760967545 | 6:44,268,290 | C/G | — | likely benign |
| rs200778121 | 6:44,268,305 | G/C | — | conflicting classifications of pathogenicity |
| rs2534638001 | 6:44,268,334 | G/A | — | likely benign |
| rs150039184 | 6:44,268,337 | C/A | — | conflicting classifications of pathogenicity |
| rs371151506 | 6:44,268,350 | G/A | — | likely benign |
| rs1785274253 | 6:44,268,358 | G/A | — | pathogenic |
| rs779332260 | 6:44,268,370 | G/A | — | likely pathogenic |
| rs325008 | 6:44,268,371 | T/T | — | benign |
| rs747312867 | 6:44,268,381 | G/A | — | conflicting classifications of pathogenicity |
| rs771293152 | 6:44,268,382 | C/T | — | uncertain significance |
| rs1554147408 | 6:44,268,392 | C/A | — | uncertain significance |
| rs1785280064 | 6:44,268,412 | G/A | — | likely benign |
| rs763868546 | 6:44,268,430 | T/G | — | uncertain significance |
| rs886061485 | 6:44,268,448 | C/T | — | uncertain significance |
| rs77287454 | 6:44,268,591 | C/T | — | likely benign |
| rs111611268 | 6:44,268,702 | T/G | — | likely benign |
| rs150658816 | 6:44,268,788 | C/T | — | likely benign |
| rs761640732 | 6:44,268,873 | T/C | — | likely benign |
| rs1292095604 | 6:44,268,903 | T/C | — | uncertain significance |
| rs201616927 | 6:44,268,956 | C/T | — | likely benign |
| rs148429504 | 6:44,268,957 | G/C | — | uncertain significance |
| rs202149382 | 6:44,268,964 | G/A | — | conflicting classifications of pathogenicity |
| rs370586197 | 6:44,268,968 | C/G | — | uncertain significance |
| rs768583871 | 6:44,268,984 | C/T | — | uncertain significance |
| rs145086947 | 6:44,268,985 | G/A | — | conflicting classifications of pathogenicity |
| rs2534643973 | 6:44,269,001 | C/G | — | likely benign |
| rs368363224 | 6:44,269,012 | C/T | — | likely benign |
| rs372088350 | 6:44,269,013 | G/A | — | conflicting classifications of pathogenicity |
| rs325007 | 6:44,269,023 | T/C | — | benign |
| rs77555031 | 6:44,269,048 | C/G | — | likely benign |
| rs77920790 | 6:44,269,087 | C/G | — | likely benign |
| rs190179603 | 6:44,269,091 | G/A | — | likely benign |
| rs549379670 | 6:44,269,100 | G/A | — | likely benign |
| rs374271817 | 6:44,269,108 | T/A | — | likely benign |
| rs2534645246 | 6:44,269,113 | C/T | — | uncertain significance |
| rs766642839 | 6:44,269,121 | G/A | — | conflicting classifications of pathogenicity |
| rs779053083 | 6:44,269,129 | C/T | — | uncertain significance |
| rs752797271 | 6:44,269,132 | C/T | — | uncertain significance |
| rs758434921 | 6:44,269,142 | G/T | — | uncertain significance |
| rs1002993835 | 6:44,269,146 | A/G | — | uncertain significance |
| rs1036180875 | 6:44,269,157 | C/A | — | likely benign |
| rs911331424 | 6:44,269,159 | C/T | — | uncertain significance |
| rs147575189 | 6:44,269,161 | T/G | — | uncertain significance |
| rs770826503 | 6:44,269,164 | G/C | — | uncertain significance |
| rs141941157 | 6:44,269,170 | C/T | — | conflicting classifications of pathogenicity |
| rs112247130 | 6:44,269,171 | G/A | — | likely benign |
| rs1379921415 | 6:44,269,178 | C/T | — | likely benign |
| rs498512 | 6:44,269,193 | T/C | — | benign |
| rs1785349774 | 6:44,269,202 | C/T | — | likely pathogenic |
| rs12204222 | 6:44,269,422 | C/T | — | likely benign |
| rs2236500 | 6:44,269,570 | C/T | — | benign |
| rs325006 | 6:44,269,640 | G/A | — | benign |
| rs325005 | 6:44,269,680 | C/G | — | benign |
| rs113721536 | 6:44,269,781 | C/A | — | benign |
| rs376223052 | 6:44,269,786 | C/T | — | conflicting classifications of pathogenicity |
| rs748931933 | 6:44,269,787 | C/A | — | likely benign |
Showing 100 of 515 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.