CACNB2

calcium voltage-gated channel auxiliary subunit beta 2

Summary

This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]

Known Variants770 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1076431910:18,428,415C/Tupstream gene variant—
rs5582258010:18,429,383C/T—benign
rs1276427110:18,429,407C/A—benign
rs18253083610:18,429,608G/A—benign
rs13809423110:18,429,624C/A—benign
rs18908235410:18,429,630G/A—benign
rs37019892710:18,429,635G/A—benign
rs37312784110:18,429,636G/A—likely benign
rs76231388310:18,429,649G/T—benign
rs75080891310:18,429,662G/A—likely benign
rs74631183410:18,429,666A/G—uncertain significance
rs249118302010:18,429,668G/A—uncertain significance
rs78036882910:18,429,669G/A—uncertain significance
rs78620578810:18,429,718C/T—uncertain significance
rs144408017310:18,429,719G/C—likely benign
rs104636561110:18,429,725G/C—uncertain significance
rs76357312310:18,429,749C/T—likely benign
rs75880628810:18,429,752G/T—likely benign
rs105752239510:18,429,761G/A—likely benign
rs75409716910:18,429,765G/T—uncertain significance
rs37083932010:18,429,767G/T—conflicting classifications of pathogenicity
rs37326311410:18,429,769T/C—uncertain significance
rs133156494210:18,429,790C/A—benign
rs19983727410:18,429,910C/T—benign
rs11454641310:18,429,966G/C—benign
rs11775029910:18,429,981C/G—benign
rs11560211010:18,430,072C/T—benign
rs75163114610:18,430,123T/C—likely benign
rs106479545710:18,430,145G/C—uncertain significance
rs57017436410:18,430,151C/G—likely benign
rs123172138510:18,430,164A/G—benign
rs20060626410:18,430,169G/T—likely benign
rs1257232110:18,430,220A/G—benign
rs55128089710:18,430,450C/G—likely benign
rs7359373410:18,431,414C/Tintron variant—
rs19126735010:18,439,593A/C—likely benign
rs6154560310:18,439,747C/T—benign
rs7412023510:18,439,808T/G—benign
rs75039618210:18,439,810A/T—uncertain significance
rs87598981210:18,439,811G/T—uncertain significance
rs78620578510:18,439,824G/A—uncertain significance
rs14863826210:18,439,846T/G—likely benign
rs203149977910:18,439,891G/C—uncertain significance
rs76053859710:18,439,899C/T—uncertain significance
rs15072250210:18,439,900G/A—likely benign
rs7981921710:18,439,926C/T—benign
rs14221835710:18,439,993A/C—likely benign
rs1074099310:18,442,482C/Tintron variant—
rs1074099510:18,445,088G/C——
rs1101283210:18,445,483C/G——
rs195298410:18,466,582C/Tintron variant—
rs791164410:18,468,589C/Tintron variant—
rs177924010:18,476,313G/Aintron variant—
rs248920410:18,508,434G/Cintron variant—
rs175722310:18,514,999G/T——
rs175722510:18,516,925A/C——
rs127775110:18,522,261C/A——
rs248210910:18,525,170G/Aintron variant—
rs706929210:18,546,988C/Tdownstream gene variant—
rs709938010:18,549,016G/Adownstream gene variant—
rs235792810:18,549,641G/Acoding sequence variantbenign
rs14099902710:18,549,771G/T—benign
rs7360154810:18,549,889T/C—benign
rs102528481710:18,549,891A/G—benign
rs76240141410:18,549,950C/G—benign
rs53623442010:18,549,964C/A—likely benign
rs76786840610:18,550,033C/T—benign
rs97766115810:18,550,228G/T—likely benign
rs78620578310:18,550,236G/C—likely benign
rs14983604010:18,550,254T/G—benign
rs105752453810:18,550,255C/A—likely benign
rs94213025410:18,550,260G/T—uncertain significance
rs14581188510:18,550,296C/T—likely benign
rs95104610:18,550,450G/A—benign
rs6184424510:18,550,496G/A—benign
rs248921910:18,552,276G/Aupstream gene variant—
rs18255143110:18,565,589C/Tintron variant—
rs18524700910:18,587,356T/Cintron variant—
rs279957310:18,601,928T/Cregulatory region variant—
rs11485356210:18,629,526A/G—likely benign
rs11755876710:18,629,602C/A—likely benign
rs1082854510:18,629,603A/G—likely benign
rs77554600510:18,629,843G/C—benign
rs36969628710:18,629,852T/C—conflicting classifications of pathogenicity
rs76279611610:18,629,853A/G—uncertain significance
rs76400839610:18,629,854G/A—uncertain significance
rs140112240710:18,629,857T/C—uncertain significance
rs204120812110:18,629,863A/G—uncertain significance
rs213207037110:18,629,867A/G—likely benign
rs77423191910:18,629,868C/T—uncertain significance
rs213207043410:18,629,870C/A—likely benign
rs100660232610:18,629,875T/C—uncertain significance
rs76156458410:18,629,880C/A—uncertain significance
rs140964162610:18,629,881C/T—uncertain significance
rs204120920810:18,629,883C/T—uncertain significance
rs58777774210:18,629,887C/T—pathogenic
rs106050491610:18,629,894C/T—likely benign
rs204121009210:18,629,898A/T—uncertain significance
rs249264886910:18,629,901C/A—uncertain significance
rs181011274610:18,629,906G/C—uncertain significance

Showing 100 of 770 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.