Canonical Allele Identifier: CA1752434484

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951110_150951112delinsATA , CM000669.2:g.150951110_150951112delinsATA	GRCh38
NC_000007.13:g.150648198_150648200delinsATA , CM000669.1:g.150648198_150648200delinsATA	GRCh37
NC_000007.12:g.150279131_150279133delinsATA	NCBI36
NG_008916.1:g.31815_31817delinsTAT , LRG_288:g.31815_31817delinsTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1252_1254delinsTAT
ENST00000683359.1:n.78_80delinsTAT
ENST00000684241.1:n.2787_2789delinsTAT
ENST00000262186.10:c.1954_1956delinsTAT MANE Select	ENSP00000262186.5:p.Tyr652=
ENST00000330883.9:c.934_936delinsTAT	ENSP00000328531.4:p.Tyr312=
ENST00000262186.9:c.1954_1956delinsTAT	ENSP00000262186.5:p.Tyr652=
ENST00000330883.8:c.934_936delinsTAT	ENSP00000328531.4:p.Tyr312=
ENST00000430723.4:c.1606_1608delinsTAT	ENSP00000387657.4:p.Tyr536=
ENST00000461280.1:n.1241_1243delinsTAT
ENST00000473610.5:n.1586_1588delinsTAT
ENST00000532957.5:n.2177_2179delinsTAT
NM_000238.3:c.1954_1956delinsTAT , LRG_288t1:c.1954_1956delinsTAT	NP_000229.1:p.Tyr652=
NM_001204798.1:c.934_936delinsTAT	NP_001191727.1:p.Tyr312=
NM_172056.2:c.1954_1956delinsTAT , LRG_288t2:c.1954_1956delinsTAT	NP_742053.1:p.Tyr652=
NM_172057.2:c.934_936delinsTAT , LRG_288t3:c.934_936delinsTAT	NP_742054.1:p.Tyr312=
XM_011516185.1:c.1654_1656delinsTAT	XP_011514487.1:p.Tyr552=
XM_011516186.1:c.1954_1956delinsTAT	XP_011514488.1:p.Tyr652=
XM_011516185.2:c.1654_1656delinsTAT	XP_011514487.1:p.Tyr552=
XM_011516186.3:c.1954_1956delinsTAT	XP_011514488.1:p.Tyr652=
XM_017012195.1:c.1804_1806delinsTAT	XP_016867684.1:p.Tyr602=
XM_017012196.1:c.1777_1779delinsTAT	XP_016867685.1:p.Tyr593=
NM_000238.4:c.1954_1956delinsTAT MANE Select	NP_000229.1:p.Tyr652=
NM_001204798.2:c.934_936delinsTAT	NP_001191727.1:p.Tyr312=
NM_172057.3:c.934_936delinsTAT	NP_742054.1:p.Tyr312=