Canonical Allele Identifier: CA1752433587

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950335C= , CM000669.2:g.150950335C=	GRCh38
NC_000007.13:g.150647423C= , CM000669.1:g.150647423C=	GRCh37
NC_000007.12:g.150278356C=	NCBI36
NG_008916.1:g.32592G= , LRG_288:g.32592G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1529G=
ENST00000684241.1:n.3064G=
ENST00000262186.10:c.2231G= MANE Select	ENSP00000262186.5:p.Arg744=
ENST00000330883.9:c.1211G=	ENSP00000328531.4:p.Arg404=
ENST00000262186.9:c.2231G=	ENSP00000262186.5:p.Arg744=
ENST00000330883.8:c.1211G=	ENSP00000328531.4:p.Arg404=
ENST00000430723.4:c.1883G=	ENSP00000387657.4:p.Arg628=
ENST00000461280.1:n.1518G=
ENST00000473610.5:n.1863G=
ENST00000532957.5:n.2454G=
NM_000238.3:c.2231G= , LRG_288t1:c.2231G=	NP_000229.1:p.Arg744=
NM_001204798.1:c.1211G=	NP_001191727.1:p.Arg404=
NM_172056.2:c.2231G= , LRG_288t2:c.2231G=	NP_742053.1:p.Arg744=
NM_172057.2:c.1211G= , LRG_288t3:c.1211G=	NP_742054.1:p.Arg404=
XM_011516185.1:c.1931G=	XP_011514487.1:p.Arg644=
XM_011516186.1:c.2231G=	XP_011514488.1:p.Arg744=
XM_011516185.2:c.1931G=	XP_011514487.1:p.Arg644=
XM_011516186.3:c.2231G=	XP_011514488.1:p.Arg744=
XM_017012195.1:c.2081G=	XP_016867684.1:p.Arg694=
XM_017012196.1:c.2054G=	XP_016867685.1:p.Arg685=
NM_000238.4:c.2231G= MANE Select	NP_000229.1:p.Arg744=
NM_001204798.2:c.1211G=	NP_001191727.1:p.Arg404=
NM_172057.3:c.1211G=	NP_742054.1:p.Arg404=