Canonical Allele Identifier: CA1752414686

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955440G= , CM000669.2:g.150955440G=	GRCh38
NC_000007.13:g.150652528G= , CM000669.1:g.150652528G=	GRCh37
NC_000007.12:g.150283461G=	NCBI36
NG_008916.1:g.27487C= , LRG_288:g.27487C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.382C=
ENST00000684241.1:n.1961+1851C=
ENST00000262186.10:c.1128+1851C= MANE Select	ENSP00000262186.5:n.1128+1851C=
ENST00000330883.9:c.64C=	ENSP00000328531.4:p.Arg22=
ENST00000262186.9:c.1128+1851C=	ENSP00000262186.5:n.1128+1851C=
ENST00000330883.8:c.64C=	ENSP00000328531.4:p.Arg22=
ENST00000430723.4:c.780+1851C=	ENSP00000387657.4:n.780+1851C=
ENST00000461280.1:n.371C=
ENST00000473610.5:n.389C=
ENST00000532957.5:n.1351+1851C=
NM_000238.3:c.1128+1851C= , LRG_288t1:c.1128+1851C=	NP_000229.1:n.1128+1851C=
NM_001204798.1:c.64C=	NP_001191727.1:p.Arg22=
NM_172056.2:c.1128+1851C= , LRG_288t2:c.1128+1851C=	NP_742053.1:n.1128+1851C=
NM_172057.2:c.64C= , LRG_288t3:c.64C=	NP_742054.1:p.Arg22=
XM_011516185.1:c.828+1851C=	XP_011514487.1:n.828+1851C=
XM_011516186.1:c.1128+1851C=	XP_011514488.1:n.1128+1851C=
XM_011516185.2:c.828+1851C=	XP_011514487.1:n.828+1851C=
XM_011516186.3:c.1128+1851C=	XP_011514488.1:n.1128+1851C=
XM_017012195.1:c.978+1851C=	XP_016867684.1:n.978+1851C=
XM_017012196.1:c.951+1851C=	XP_016867685.1:n.951+1851C=
NM_000238.4:c.1128+1851C= MANE Select	NP_000229.1:n.1128+1851C=
NM_001204798.2:c.64C=	NP_001191727.1:p.Arg22=
NM_172057.3:c.64C=	NP_742054.1:p.Arg22=