ANK2

ankyrin 2

Summary

This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]

Known Variants2,863 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5342048794:113,627,323G/A—likely benign
rs8985502754:113,627,324C/G—uncertain significance
rs10038002414:113,627,362C/T—likely benign
rs110981714:113,710,173T/Cupstream gene variant—
rs68507684:113,718,900C/Tcoding sequence variant—
rs5709845104:113,743,654C/T——
rs1161645394:113,780,878G/Tintron variant—
rs117283534:113,825,408T/C—benign
rs7754008144:113,825,611G/C—benign
rs767649534:113,825,694A/G—likely benign
rs14482224:113,825,722G/A—likely benign
rs1124280844:113,825,821A/T—benign
rs76752544:113,825,869T/C—benign
rs125005794:113,855,477C/Gintron variant—
rs100140724:113,948,790A/Gdownstream gene variant—
rs623148814:113,956,403G/A——
rs5486679164:113,970,496G/C—likely benign
rs800778874:113,970,759T/C—benign
rs21543224184:113,970,778A/C—benign
rs3728707294:113,970,846G/T—conflicting classifications of pathogenicity
rs2016467904:113,970,867C/G—benign
rs9298545244:113,970,888A/G—uncertain significance
rs25487327704:113,970,890G/A—uncertain significance
rs7486549304:113,970,897G/T—uncertain significance
rs25487333294:113,970,913G/A—likely benign
rs25487334464:113,970,916A/T—uncertain significance
rs14288965964:113,970,919G/T—uncertain significance
rs20660756154:113,970,920T/C—likely benign
rs7453568704:113,970,921G/T—uncertain significance
rs9833142904:113,970,926G/T—uncertain significance
rs7796066724:113,970,932C/G—uncertain significance
rs14240554534:113,970,933A/G—uncertain significance
rs3692600054:113,970,940G/A—conflicting classifications of pathogenicity
rs10605041554:113,970,947G/A—likely benign
rs7698430734:113,970,964A/C—uncertain significance
rs1397656504:113,970,968G/A—uncertain significance
rs7629730674:113,970,975C/T—likely benign
rs7664308014:113,970,976G/A—likely benign
rs20661099834:113,970,978C/T—likely benign
rs7597363994:113,970,979G/A—conflicting classifications of pathogenicity
rs76947254:114,000,956T/G——
rs22202084:114,037,858A/G—benign
rs10174751844:114,038,550A/C—uncertain significance
rs9950007954:114,038,555G/A—uncertain significance
rs21543693914:114,038,576T/C—likely pathogenic
rs750500544:114,067,059C/T—likely benign
rs558472004:114,067,061G/T—likely benign
rs12350092204:114,067,064A/G—uncertain significance
rs1163386864:114,067,089T/A—benign
rs31129804:114,067,139G/A—benign
rs76892144:114,067,145G/A—benign
rs3714754874:114,095,552G/A—likely benign
rs3690197004:114,095,553T/C—likely benign
rs3725604194:114,095,567C/T—conflicting classifications of pathogenicity
rs3775762194:114,095,568G/A—likely benign
rs12573417254:114,095,569C/T—uncertain significance
rs24843989644:114,095,578A/G—uncertain significance
rs8668751044:114,095,589C/T—likely benign
rs13739365144:114,095,593C/T—uncertain significance
rs20981158404:114,095,595C/T—likely benign
rs3698772804:114,095,596C/T—uncertain significance
rs20981160354:114,095,600C/T—uncertain significance
rs14638550734:114,095,602G/T—uncertain significance
rs10853076234:114,095,608G/A—uncertain significance
rs21532251294:114,095,614A/G—uncertain significance
rs1452726514:114,095,617C/G—likely benign
rs1509862994:114,095,619G/A—likely benign
rs13887017834:114,095,626G/T—uncertain significance
rs5550033934:114,095,627T/C—uncertain significance
rs20981167834:114,095,629G/A—uncertain significance
rs12570399634:114,095,635T/A—uncertain significance
rs24844071944:114,095,642A/G—uncertain significance
rs13284900604:114,095,644G/C—uncertain significance
rs7698932434:114,095,645G/C—uncertain significance
rs24844090974:114,095,648G/A—uncertain significance
rs7496350394:114,095,649C/T—likely benign
rs21532251764:114,095,659A/G—uncertain significance
rs7862057184:114,095,663C/T—uncertain significance
rs24844127464:114,095,676A/G—benign
rs3776122574:114,095,678G/T—uncertain significance
rs12633999874:114,095,681C/T—likely benign
rs7682195344:114,095,689C/G—likely benign
rs10575215314:114,095,691A/G—likely benign
rs1152731424:114,096,016A/G—likely benign
rs22857114:114,117,280A/G—benign
rs22857104:114,117,472C/T—benign
rs11809123734:114,117,509T/C—likely benign
rs3707246144:114,117,514C/A—likely benign
rs15845726704:114,117,517C/T—likely benign
rs10575243734:114,117,518T/C—likely benign
rs20987483094:114,117,519C/T—uncertain significance
rs1469640544:114,117,535C/T—conflicting classifications of pathogenicity
rs20987484844:114,117,539C/G—uncertain significance
rs9511199804:114,117,561G/C—uncertain significance
rs13009209954:114,117,565C/T—likely benign
rs7762548194:114,117,566G/A—conflicting classifications of pathogenicity
rs1496991854:114,117,568G/A—conflicting classifications of pathogenicity
rs24864057664:114,117,571G/A—likely benign
rs7728768324:114,117,586G/A—likely benign
rs21533899154:114,117,587C/A—uncertain significance

Showing 100 of 2,863 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.