Canonical Allele Identifier: CA1752409734

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951534C= , CM000669.2:g.150951534C=	GRCh38
NC_000007.13:g.150648622C= , CM000669.1:g.150648622C=	GRCh37
NC_000007.12:g.150279555C=	NCBI36
NG_008916.1:g.31393G= , LRG_288:g.31393G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1157G=
ENST00000684241.1:n.2692G=
ENST00000262186.10:c.1859G= MANE Select	ENSP00000262186.5:p.Ser620=
ENST00000330883.9:c.839G=	ENSP00000328531.4:p.Ser280=
ENST00000262186.9:c.1859G=	ENSP00000262186.5:p.Ser620=
ENST00000330883.8:c.839G=	ENSP00000328531.4:p.Ser280=
ENST00000430723.4:c.1511G=	ENSP00000387657.4:p.Ser504=
ENST00000461280.1:n.1146G=
ENST00000473610.5:n.1164G=
ENST00000532957.5:n.2082G=
NM_000238.3:c.1859G= , LRG_288t1:c.1859G=	NP_000229.1:p.Ser620=
NM_001204798.1:c.839G=	NP_001191727.1:p.Ser280=
NM_172056.2:c.1859G= , LRG_288t2:c.1859G=	NP_742053.1:p.Ser620=
NM_172057.2:c.839G= , LRG_288t3:c.839G=	NP_742054.1:p.Ser280=
XM_011516185.1:c.1559G=	XP_011514487.1:p.Ser520=
XM_011516186.1:c.1859G=	XP_011514488.1:p.Ser620=
XM_011516185.2:c.1559G=	XP_011514487.1:p.Ser520=
XM_011516186.3:c.1859G=	XP_011514488.1:p.Ser620=
XM_017012195.1:c.1709G=	XP_016867684.1:p.Ser570=
XM_017012196.1:c.1682G=	XP_016867685.1:p.Ser561=
NM_000238.4:c.1859G= MANE Select	NP_000229.1:p.Ser620=
NM_001204798.2:c.839G=	NP_001191727.1:p.Ser280=
NM_172057.3:c.839G=	NP_742054.1:p.Ser280=