Canonical Allele Identifier: CA913188241
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 920801
dbSNP Id: rs1800969882

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947800_150947802delinsGCT , CM000669.2:g.150947800_150947802delinsGCT GRCh38
NC_000007.13:g.150644888_150644890delinsGCT , CM000669.1:g.150644888_150644890delinsGCT GRCh37
NC_000007.12:g.150275821_150275823delinsGCT NCBI36
NG_008916.1:g.35125_35127delinsAGC , LRG_288:g.35125_35127delinsAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3602_3604delinsAGC
ENST00000262186.10:c.2769_2771delinsAGC MANE Select ENSP00000262186.5:p.Gly924Ala
ENST00000330883.9:c.1749_1751delinsAGC ENSP00000328531.4:p.Gly584Ala
ENST00000262186.9:c.2769_2771delinsAGC ENSP00000262186.5:p.Gly924Ala
ENST00000330883.8:c.1749_1751delinsAGC ENSP00000328531.4:p.Gly584Ala
NM_000238.3:c.2769_2771delinsAGC , LRG_288t1:c.2769_2771delinsAGC NP_000229.1:p.Gly924Ala
NM_172057.2:c.1749_1751delinsAGC , LRG_288t3:c.1749_1751delinsAGC NP_742054.1:p.Gly584Ala
XM_011516185.1:c.2469_2471delinsAGC XP_011514487.1:p.Gly824Ala
XM_011516186.1:c.2693-111_2693-109delinsAGC XP_011514488.1:n.2693-111_2693-109delinsAGC
XM_011516185.2:c.2469_2471delinsAGC XP_011514487.1:p.Gly824Ala
XM_011516186.3:c.2693-111_2693-109delinsAGC XP_011514488.1:n.2693-111_2693-109delinsAGC
XM_017012195.1:c.2619_2621delinsAGC XP_016867684.1:p.Gly874Ala
XM_017012196.1:c.2592_2594delinsAGC XP_016867685.1:p.Gly865Ala
NM_000238.4:c.2769_2771delinsAGC MANE Select NP_000229.1:p.Gly924Ala
NM_172057.3:c.1749_1751delinsAGC NP_742054.1:p.Gly584Ala