TARS2

threonyl-tRNA synthetase 2, mitochondrial

Summary

This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

Known Variants227 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs34001546	1:150,459,715	T/C	—	benign
rs375885077	1:150,459,886	C/T	—	likely benign
rs201336268	1:150,459,905	G/A	—	likely benign
rs1240194764	1:150,459,927	A/T	—	uncertain significance
rs750384060	1:150,459,931	C/T	—	uncertain significance
rs955443982	1:150,459,934	T/A	—	uncertain significance
rs1477795105	1:150,459,935	G/C	—	likely benign
rs1669198266	1:150,459,957	C/T	—	uncertain significance
rs367864616	1:150,459,975	G/A	—	uncertain significance
rs748959322	1:150,459,987	C/T	—	uncertain significance
rs2275246	1:150,460,168	A/G	—	benign
rs2275245	1:150,460,348	C/T	—	benign
rs1669218643	1:150,460,358	T/A	—	uncertain significance
rs1570828267	1:150,460,368	A/G	—	uncertain significance
rs1274547718	1:150,460,408	A/G	—	likely benign
rs1669220997	1:150,460,410	A/G	—	uncertain significance
rs754955081	1:150,460,426	G/A	—	conflicting classifications of pathogenicity
rs139545023	1:150,460,438	A/G	—	likely benign
rs1410458841	1:150,460,444	G/A	—	likely benign
rs756325267	1:150,460,453	G/A	—	likely benign
rs749449546	1:150,460,457	T/C	—	uncertain significance
rs1287843869	1:150,460,458	C/G	—	likely pathogenic
rs2526246123	1:150,460,460	C/G	—	uncertain significance
rs903612468	1:150,460,503	C/T	—	uncertain significance
rs770626678	1:150,460,520	C/T	—	uncertain significance
rs146092962	1:150,460,538	G/T	—	benign
rs370294229	1:150,461,431	C/T	—	likely benign
rs771685918	1:150,461,501	C/T	—	uncertain significance
rs760526545	1:150,461,502	G/A	—	conflicting classifications of pathogenicity
rs376600610	1:150,461,542	C/T	—	likely benign
rs1064797119	1:150,461,569	T/C	—	uncertain significance
rs12142874	1:150,461,801	A/G	—	benign
rs12138453	1:150,461,873	G/T	—	benign
rs139648221	1:150,462,791	C/G	—	likely benign
rs9436118	1:150,462,811	C/T	—	benign
rs115863890	1:150,462,903	T/A	—	benign
rs1460386961	1:150,463,067	G/T	—	likely benign
rs2102476204	1:150,463,076	G/C	—	uncertain significance
rs763168537	1:150,463,078	T/G	—	uncertain significance
rs1215196293	1:150,463,087	A/G	—	uncertain significance
rs1292789892	1:150,463,088	C/T	—	likely benign
rs1048775321	1:150,463,091	C/T	—	likely benign
rs1441723059	1:150,463,109	G/T	—	likely benign
rs1239965763	1:150,463,134	G/A	—	uncertain significance
rs2526263245	1:150,463,140	C/T	—	uncertain significance
rs2526263331	1:150,463,153	C/T	—	likely pathogenic
rs758088548	1:150,463,159	C/G	—	likely pathogenic
rs12145082	1:150,463,526	T/C	—	benign
rs77531603	1:150,463,588	A/G	—	likely benign
rs7542068	1:150,463,772	C/G	—	benign
rs749219029	1:150,463,866	C/G	—	likely benign
rs1437741036	1:150,463,867	C/A	—	uncertain significance
rs772356195	1:150,463,878	G/A	—	uncertain significance
rs2526268798	1:150,463,888	G/A	—	likely benign
rs111335458	1:150,463,918	A/C	—	uncertain significance
rs140418026	1:150,463,919	C/A	—	likely benign
rs141286062	1:150,463,923	C/A	—	uncertain significance
rs753782098	1:150,463,935	G/A	—	conflicting classifications of pathogenicity
rs745637666	1:150,463,944	G/A	—	uncertain significance
rs192883326	1:150,463,961	C/T	—	uncertain significance
rs768915339	1:150,463,981	G/A	—	likely benign
rs776715197	1:150,463,990	G/C	—	uncertain significance
rs587674636	1:150,464,006	G/A	—	likely benign
rs1164044122	1:150,464,077	A/G	—	uncertain significance
rs587777594	1:150,464,141	A/G	splice region variant	pathogenic
rs112103825	1:150,464,331	C/G	—	benign
rs7549396	1:150,464,603	A/G	—	benign
rs2102480567	1:150,464,873	C/T	—	likely benign
rs373434114	1:150,464,882	C/A	—	likely benign
rs182013142	1:150,464,913	A/G	—	likely benign
rs2526277739	1:150,464,923	C/T	—	likely benign
rs763015481	1:150,464,927	C/T	—	uncertain significance
rs368899093	1:150,464,947	A/G	—	likely benign
rs145039072	1:150,464,964	C/T	—	conflicting classifications of pathogenicity
rs2526278171	1:150,464,970	G/T	—	uncertain significance
rs1570839255	1:150,464,973	G/T	—	likely benign
rs9436119	1:150,467,753	G/T	—	—
rs1343965	1:150,468,842	A/G	—	benign
rs759379537	1:150,468,942	C/T	—	likely benign
rs767358679	1:150,468,944	A/G	—	likely benign
rs757391561	1:150,468,984	A/G	—	likely benign
rs770289536	1:150,468,988	G/A	—	uncertain significance
rs587777593	1:150,469,028	C/T	missense variant	pathogenic
rs748946128	1:150,469,033	A/G	—	uncertain significance
rs2102490293	1:150,469,048	G/T	—	uncertain significance
rs1669673209	1:150,469,070	A/G	—	uncertain significance
rs775382225	1:150,469,083	G/C	—	likely benign
rs370560290	1:150,469,091	G/A	—	uncertain significance
rs201680083	1:150,469,094	G/A	—	uncertain significance
rs2526305161	1:150,469,097	T/C	—	uncertain significance
rs953127	1:150,469,256	G/T	—	benign
rs2526306643	1:150,469,280	C/T	—	likely benign
rs866255004	1:150,469,297	C/G	—	likely benign
rs760208518	1:150,469,332	T/G	—	uncertain significance
rs1199659882	1:150,469,343	C/T	—	uncertain significance
rs367984492	1:150,469,344	G/A	—	likely pathogenic
rs587651859	1:150,469,375	G/A	—	likely benign
rs1057521898	1:150,469,399	G/A	—	likely benign
rs2526307917	1:150,469,402	T/C	—	likely benign
rs1487323364	1:150,469,404	G/C	—	likely benign

Showing 100 of 227 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.