GABRA2

gamma-aminobutyric acid type A receptor subunit alpha2

Summary

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Known Variants239 total

rsidPosition (GRCh37)AllelesClassClinVar
rs4970684:46,250,677G/C——
rs760267764:46,252,323A/T—benign
rs21093722384:46,252,335A/G—likely benign
rs7740358554:46,252,337C/T—likely benign
rs7617151344:46,252,347G/T—uncertain significance
rs21093724004:46,252,348G/A—uncertain significance
rs24751972064:46,252,350T/A—uncertain significance
rs2009876784:46,252,353C/T—uncertain significance
rs2021962724:46,252,358T/C—likely benign
rs24751974134:46,252,384T/C—uncertain significance
rs7659968704:46,252,388G/A—likely benign
rs24751976534:46,252,412T/C—uncertain significance
rs2018739064:46,252,422A/G—uncertain significance
rs2001831434:46,252,439A/G—likely benign
rs17145041934:46,252,440A/G—uncertain significance
rs21093730234:46,252,460T/A—likely benign
rs3702622634:46,252,461G/T—likely benign
rs11878444884:46,252,467G/A—conflicting classifications of pathogenicity
rs24751982924:46,252,471G/T—uncertain significance
rs24751983164:46,252,473T/A—uncertain significance
rs7492110704:46,252,475G/C—uncertain significance
rs7684548804:46,252,479T/A—uncertain significance
rs7478904954:46,252,486T/G—uncertain significance
rs24751985144:46,252,487C/A—uncertain significance
rs7729377854:46,252,490G/A—likely benign
rs2013374924:46,252,501G/A—conflicting classifications of pathogenicity
rs1996458344:46,252,502C/T—likely benign
rs2008016804:46,252,503G/A—likely benign
rs14059475534:46,252,507T/C—uncertain significance
rs10204323104:46,252,512C/G—uncertain significance
rs24751990954:46,252,514C/G—likely benign
rs24751991344:46,252,519A/C—uncertain significance
rs21093734984:46,252,523G/T—likely benign
rs1432197614:46,252,529G/A—likely benign
rs24751993304:46,252,534C/G—likely benign
rs7533138944:46,252,535T/C—likely benign
rs24751994314:46,252,538A/T—uncertain significance
rs12933979374:46,252,539T/A—uncertain significance
rs2005154154:46,252,550A/T—uncertain significance
rs2017361334:46,252,553C/T—likely benign
rs11752835614:46,252,563T/C—uncertain significance
rs1999800654:46,252,568A/G—likely benign
rs14351646744:46,252,571A/T—likely benign
rs1996453064:46,252,586G/A—likely benign
rs21093741494:46,252,593T/C—uncertain significance
rs7719250304:46,252,595T/C—uncertain significance
rs1430359424:46,252,603C/T—likely benign
rs7466097464:46,252,604G/A—likely benign
rs13869656734:46,252,609C/G—uncertain significance
rs7704703484:46,252,614T/G—uncertain significance
rs7589661594:46,252,619T/C—likely benign
rs24752005684:46,252,621T/C—uncertain significance
rs24752005924:46,252,625T/C—benign
rs24752006874:46,252,632A/C—uncertain significance
rs24752446034:46,258,193T/G—likely benign
rs24752446414:46,258,195A/G—likely benign
rs13519693894:46,258,201G/A—likely benign
rs21094040164:46,258,216G/A—uncertain significance
rs14587953224:46,258,220G/A—uncertain significance
rs10097772594:46,258,235A/G—likely benign
rs14012529154:46,258,236G/C—likely benign
rs7676265994:46,258,248C/T—benign
rs13220985754:46,258,254G/T—uncertain significance
rs3736609454:46,258,258T/C—likely benign
rs17158018884:46,258,264G/A—uncertain significance
rs21093273954:46,258,273T/C—uncertain significance
rs12190867664:46,258,280A/G—likely benign
rs21093274894:46,258,284G/A—likely benign
rs5374666834:46,258,285G/A—likely benign
rs12686385324:46,258,286G/C—uncertain significance
rs10337063834:46,258,290T/C—likely benign
rs14856157124:46,258,295A/G—uncertain significance
rs24752461074:46,258,301T/G—uncertain significance
rs21093276764:46,258,307T/C—uncertain significance
rs14300555974:46,258,312C/A—uncertain significance
rs17158199784:46,258,327C/A—likely benign
rs9593289384:46,258,334G/A—likely benign
rs3689604384:46,258,338T/G—benign
rs24752467324:46,258,341T/C—likely benign
rs14211108614:46,258,354T/C—uncertain significance
rs24752469214:46,258,361A/C—likely benign
rs24752471624:46,258,382T/C—uncertain significance
rs7801862354:46,258,384G/A—likely benign
rs17158349774:46,258,393T/C—uncertain significance
rs9249161124:46,258,402C/T—likely benign
rs13556452354:46,258,404T/C—likely benign
rs12425659904:46,258,405C/T—likely benign
rs7516063384:46,263,926C/T—likely benign
rs7810505814:46,263,932C/T—likely benign
rs7454744024:46,263,933T/C—likely benign
rs7797326444:46,263,934C/G—likely benign
rs17170693984:46,263,942C/T—uncertain significance
rs7682103094:46,263,964C/G—likely benign
rs15604427164:46,263,999T/G—uncertain significance
rs24752955114:46,264,002C/G—uncertain significance
rs21093514094:46,264,007G/A—pathogenic
rs24752957784:46,264,025G/C—uncertain significance
rs12439779564:46,264,027G/T—pathogenic
rs9312343494:46,264,039A/G—likely benign
rs24752958714:46,264,040T/C—uncertain significance

Showing 100 of 239 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.