KCNH2

potassium voltage-gated channel subfamily H member 2

Summary

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]

Known Variants2,137 total

rsidPosition (GRCh37)AllelesClassClinVar
rs413120817:150,642,056A/G—benign
rs8860620847:150,642,086G/T—uncertain significance
rs9475724057:150,642,185G/A—uncertain significance
rs1422540687:150,642,225C/T—uncertain significance
rs8860620857:150,642,258G/T—uncertain significance
rs413131437:150,642,263G/A—likely benign
rs7636029287:150,642,306A/T—uncertain significance
rs287639947:150,642,341G/A—likely benign
rs1497507737:150,642,361G/C—uncertain significance
rs7788994577:150,642,397G/A—uncertain significance
rs10575226167:150,642,436C/G—likely benign
rs413137467:150,642,438C/T—likely benign
rs13489621927:150,642,447G/A—uncertain significance
rs24859943537:150,642,455A/G—uncertain significance
rs24859943797:150,642,459G/T—likely benign
rs18008522637:150,642,460C/G—uncertain significance
rs5626093927:150,642,462C/T—likely benign
rs1431671667:150,642,463G/Amissense variantuncertain significance
rs14499060957:150,642,464G/A—uncertain significance
rs12667125537:150,642,466T/C—uncertain significance
rs21169171717:150,642,467C/G—uncertain significance
rs7501458627:150,642,468C/T—likely benign
rs8674025807:150,642,469G/A—uncertain significance
rs1994735487:150,642,473C/T—uncertain significance
rs7555997567:150,642,474G/C—uncertain significance
rs1994730357:150,642,476G/Amissense variantuncertain significance
rs11739991937:150,642,477T/C—likely benign
rs5314267517:150,642,480G/T—uncertain significance
rs7548837927:150,642,485G/T—conflicting classifications of pathogenicity
rs7585762357:150,642,486G/C—likely benign
rs24859946407:150,642,488G/A—uncertain significance
rs24859946697:150,642,493G/C—uncertain significance
rs7788795727:150,642,497T/A—conflicting classifications of pathogenicity
rs24859947147:150,642,500G/C—uncertain significance
rs21169174417:150,642,501G/A—likely benign
rs1994730347:150,642,503C/Tmissense variantuncertain significance
rs7479314647:150,642,504C/A—likely benign
rs3761376407:150,642,516C/G—likely benign
rs8860620867:150,642,517G/A—uncertain significance
rs24859948267:150,642,518G/A—uncertain significance
rs14570234837:150,642,519T/A—likely benign
rs14130266297:150,642,523G/T—uncertain significance
rs13446560047:150,642,527G/A—uncertain significance
rs1994735477:150,642,529C/Tmissense variantuncertain significance
rs7813698507:150,642,530G/A—uncertain significance
rs9652597777:150,642,533G/A—uncertain significance
rs7461024657:150,642,534T/C—likely benign
rs7862054227:150,642,539G/C—uncertain significance
rs24859949567:150,642,540G/A—likely benign
rs3705589967:150,642,541C/A—uncertain significance
rs413130687:150,642,543T/C—likely benign
rs24859950217:150,642,546T/C—likely benign
rs24859950287:150,642,548G/C—uncertain significance
rs21169177187:150,642,549G/A—likely benign
rs24859950627:150,642,553A/G—uncertain significance
rs18008565187:150,642,554G/A—uncertain significance
rs14521759867:150,642,557C/G—uncertain significance
rs24859950907:150,642,559G/A—uncertain significance
rs11593522797:150,642,560G/C—uncertain significance
rs18008569597:150,642,565C/G—uncertain significance
rs3714732717:150,642,567C/T—likely benign
rs5314606557:150,642,568G/A—conflicting classifications of pathogenicity
rs18008576397:150,642,571G/A—uncertain significance
rs18008577227:150,642,572G/A—uncertain significance
rs15848392877:150,642,575G/C—uncertain significance
rs13890245467:150,642,576C/T—conflicting classifications of pathogenicity
rs1994730337:150,642,578C/A—pathogenic
rs18008582647:150,642,581C/T—uncertain significance
rs24859952967:150,642,582A/G—likely benign
rs7308801197:150,642,583C/T—uncertain significance
rs3761805017:150,642,585C/T—likely benign
rs1994730327:150,642,586G/Amissense variantuncertain significance
rs18008587237:150,642,587C/T—uncertain significance
rs7532743507:150,642,589A/G—uncertain significance
rs1994735467:150,642,590T/Cmissense variantuncertain significance
rs24859953797:150,642,591G/C—uncertain significance
rs18008590257:150,642,594C/T—likely benign
rs21169181567:150,642,600A/G—likely benign
rs7545825157:150,642,611C/T—likely benign
rs24859954577:150,642,612A/G—uncertain significance
rs7651294427:150,642,620C/A—likely benign
rs14713944287:150,642,622T/C—likely benign
rs21169246637:150,643,943A/G—benign
rs8999850207:150,643,948G/A—likely benign
rs12562612577:150,643,950A/C—likely benign
rs7763854417:150,643,953G/A—likely benign
rs11860900327:150,643,954C/G—likely benign
rs24860001657:150,643,955T/C—likely benign
rs24860001737:150,643,957G/A—likely benign
rs13684394037:150,643,964C/T—pathogenic
rs1994730317:150,643,973G/C—conflicting classifications of pathogenicity
rs1894574197:150,643,974C/T—likely benign
rs13035805997:150,643,975G/A—uncertain significance
rs18009098457:150,643,980C/G—uncertain significance
rs7571476157:150,643,981A/G—uncertain significance
rs24860003187:150,643,983G/A—likely benign
rs7801131517:150,643,984G/A—uncertain significance
rs7947284057:150,643,990G/A—uncertain significance
rs1994730417:150,643,993G/Amissense variantuncertain significance
rs13470392917:150,643,994G/A—uncertain significance

Showing 100 of 2,137 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.