ACTN2

actinin alpha 2

Summary

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

Known Variants1,260 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs75163151	1:236,849,464	C/T	—	benign
rs951644250	1:236,849,751	C/T	—	uncertain significance
rs980228032	1:236,849,777	C/A	—	likely benign
rs886046201	1:236,849,815	C/T	—	uncertain significance
rs886046202	1:236,849,870	C/A	—	uncertain significance
rs200003968	1:236,849,931	C/G	—	likely benign
rs138279482	1:236,849,952	C/T	—	likely benign
rs367979371	1:236,849,956	C/A	—	conflicting classifications of pathogenicity
rs370646112	1:236,849,967	G/A	—	uncertain significance
rs201920417	1:236,849,971	G/T	—	conflicting classifications of pathogenicity
rs2527437803	1:236,849,974	A/G	—	uncertain significance
rs755508640	1:236,849,979	C/A	—	uncertain significance
rs1665879577	1:236,849,981	A/G	—	uncertain significance
rs1553295387	1:236,849,982	G/T	—	uncertain significance
rs781720338	1:236,849,985	A/G	—	uncertain significance
rs1428900516	1:236,849,989	C/T	—	uncertain significance
rs2102851212	1:236,849,990	C/G	—	uncertain significance
rs368367224	1:236,849,991	C/A	—	conflicting classifications of pathogenicity
rs1057523721	1:236,849,992	G/A	—	uncertain significance
rs1387972965	1:236,849,994	C/T	—	conflicting classifications of pathogenicity
rs551141480	1:236,849,995	G/C	—	uncertain significance
rs121434525	1:236,849,999	A/G	missense variant	pathogenic
rs2102851277	1:236,850,003	C/T	—	likely benign
rs886046205	1:236,850,004	A/C	—	uncertain significance
rs1449856891	1:236,850,005	A/G	—	uncertain significance
rs1665881725	1:236,850,008	A/G	—	uncertain significance
rs1302783639	1:236,850,009	C/T	—	likely benign
rs1665882020	1:236,850,014	A/G	—	uncertain significance
rs1242103284	1:236,850,016	G/A	—	conflicting classifications of pathogenicity
rs775052416	1:236,850,019	G/A	—	conflicting classifications of pathogenicity
rs397516580	1:236,850,021	G/A	—	likely benign
rs1237522987	1:236,850,026	A/C	—	uncertain significance
rs2527438206	1:236,850,029	A/G	—	uncertain significance
rs1203291298	1:236,850,031	A/G	—	uncertain significance
rs776456711	1:236,850,032	T/C	—	uncertain significance
rs2527438243	1:236,850,035	T/C	—	uncertain significance
rs1553295414	1:236,850,037	C/T	—	uncertain significance
rs1057518609	1:236,850,038	A/T	—	uncertain significance
rs761544833	1:236,850,039	G/A	—	likely benign
rs1229509268	1:236,850,040	G/C	—	uncertain significance
rs730880040	1:236,850,055	C/T	—	uncertain significance
rs750574123	1:236,850,058	G/A	—	uncertain significance
rs397516586	1:236,850,066	C/T	—	likely benign
rs2527438420	1:236,850,076	G/A	—	uncertain significance
rs2102851395	1:236,850,080	G/A	—	uncertain significance
rs376510300	1:236,850,086	A/G	—	benign
rs781746567	1:236,850,095	G/A	—	uncertain significance
rs2527438487	1:236,850,101	T/G	—	uncertain significance
rs1665886801	1:236,850,102	C/T	—	uncertain significance
rs1440134547	1:236,850,112	C/T	—	uncertain significance
rs373269478	1:236,850,113	C/T	—	benign
rs745563404	1:236,850,114	G/C	—	uncertain significance
rs1475029814	1:236,850,115	C/T	—	likely benign
rs12046163	1:236,850,256	G/A	—	benign
rs644401	1:236,850,430	G/C	—	benign
rs12724121	1:236,852,282	A/T	regulatory region variant	—
rs12142143	1:236,854,973	T/C	intron variant	—
rs772107424	1:236,858,402	C/T	—	—
rs12563365	1:236,872,829	G/A	intron variant	—
rs4659704	1:236,876,257	C/T	—	—
rs112687055	1:236,880,887	A/G	—	likely benign
rs545717349	1:236,881,138	G/A	—	likely benign
rs2527534481	1:236,881,143	T/C	—	likely benign
rs2527534505	1:236,881,147	T/G	—	likely benign
rs768145349	1:236,881,150	C/G	—	likely benign
rs368775036	1:236,881,155	C/A	—	uncertain significance
rs2527534527	1:236,881,161	T/C	—	uncertain significance
rs1658267493	1:236,881,164	A/G	—	uncertain significance
rs1311487466	1:236,881,167	G/T	—	uncertain significance
rs794728959	1:236,881,174	G/C	—	uncertain significance
rs1057523501	1:236,881,184	C/T	—	likely benign
rs199910162	1:236,881,185	C/T	—	conflicting classifications of pathogenicity
rs1658268389	1:236,881,187	A/T	—	likely benign
rs2527534671	1:236,881,192	A/G	—	uncertain significance
rs193922634	1:236,881,196	C/T	—	likely benign
rs758034866	1:236,881,197	G/A	—	conflicting classifications of pathogenicity
rs779704744	1:236,881,198	G/A	—	uncertain significance
rs2102893449	1:236,881,202	C/A	—	likely benign
rs1658268852	1:236,881,204	A/G	—	uncertain significance
rs1412151385	1:236,881,206	A/G	—	uncertain significance
rs1658269503	1:236,881,215	A/G	—	uncertain significance
rs34403480	1:236,881,217	C/T	—	likely benign
rs2102893488	1:236,881,220	G/A	—	likely benign
rs2102893489	1:236,881,221	G/A	—	uncertain significance
rs2527534797	1:236,881,222	A/G	—	uncertain significance
rs781118555	1:236,881,224	G/A	—	uncertain significance
rs1658270003	1:236,881,231	G/A	—	uncertain significance
rs1572112476	1:236,881,247	C/A	—	likely benign
rs2527534937	1:236,881,255	T/G	—	uncertain significance
rs1572112489	1:236,881,260	G/T	—	likely pathogenic
rs2527534943	1:236,881,262	A/G	—	likely benign
rs1376117612	1:236,881,266	A/G	—	uncertain significance
rs2527534967	1:236,881,270	C/G	—	likely pathogenic
rs2527534972	1:236,881,272	G/C	—	uncertain significance
rs1278815500	1:236,881,274	T/C	—	uncertain significance
rs561826525	1:236,881,276	G/A	—	likely benign
rs772934028	1:236,881,280	T/C	—	likely benign
rs771090064	1:236,881,284	A/G	—	likely benign
rs2527535022	1:236,881,288	C/T	—	likely benign
rs2527535038	1:236,881,290	C/T	—	likely benign

Showing 100 of 1,260 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.