Canonical Allele Identifier: CA1752410265

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951649G= , CM000669.2:g.150951649G=	GRCh38
NC_000007.13:g.150648737G= , CM000669.1:g.150648737G=	GRCh37
NC_000007.12:g.150279670G=	NCBI36
NG_008916.1:g.31278C= , LRG_288:g.31278C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1042C=
ENST00000684241.1:n.2577C=
ENST00000262186.10:c.1744C= MANE Select	ENSP00000262186.5:p.Arg582=
ENST00000330883.9:c.724C=	ENSP00000328531.4:p.Arg242=
ENST00000262186.9:c.1744C=	ENSP00000262186.5:p.Arg582=
ENST00000330883.8:c.724C=	ENSP00000328531.4:p.Arg242=
ENST00000430723.4:c.1396C=	ENSP00000387657.4:p.Arg466=
ENST00000461280.1:n.1031C=
ENST00000473610.5:n.1049C=
ENST00000532957.5:n.1967C=
NM_000238.3:c.1744C= , LRG_288t1:c.1744C=	NP_000229.1:p.Arg582=
NM_001204798.1:c.724C=	NP_001191727.1:p.Arg242=
NM_172056.2:c.1744C= , LRG_288t2:c.1744C=	NP_742053.1:p.Arg582=
NM_172057.2:c.724C= , LRG_288t3:c.724C=	NP_742054.1:p.Arg242=
XM_011516185.1:c.1444C=	XP_011514487.1:p.Arg482=
XM_011516186.1:c.1744C=	XP_011514488.1:p.Arg582=
XM_011516185.2:c.1444C=	XP_011514487.1:p.Arg482=
XM_011516186.3:c.1744C=	XP_011514488.1:p.Arg582=
XM_017012195.1:c.1594C=	XP_016867684.1:p.Arg532=
XM_017012196.1:c.1567C=	XP_016867685.1:p.Arg523=
NM_000238.4:c.1744C= MANE Select	NP_000229.1:p.Arg582=
NM_001204798.2:c.724C=	NP_001191727.1:p.Arg242=
NM_172057.3:c.724C=	NP_742054.1:p.Arg242=