Canonical Allele Identifier: CA1752410506

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951721C= , CM000669.2:g.150951721C=	GRCh38
NC_000007.13:g.150648809C= , CM000669.1:g.150648809C=	GRCh37
NC_000007.12:g.150279742C=	NCBI36
NG_008916.1:g.31206G= , LRG_288:g.31206G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.970G=
ENST00000684241.1:n.2505G=
ENST00000262186.10:c.1672G= MANE Select	ENSP00000262186.5:p.Ala558=
ENST00000330883.9:c.652G=	ENSP00000328531.4:p.Ala218=
ENST00000262186.9:c.1672G=	ENSP00000262186.5:p.Ala558=
ENST00000330883.8:c.652G=	ENSP00000328531.4:p.Ala218=
ENST00000430723.4:c.1324G=	ENSP00000387657.4:p.Ala442=
ENST00000461280.1:n.959G=
ENST00000473610.5:n.977G=
ENST00000532957.5:n.1895G=
NM_000238.3:c.1672G= , LRG_288t1:c.1672G=	NP_000229.1:p.Ala558=
NM_001204798.1:c.652G=	NP_001191727.1:p.Ala218=
NM_172056.2:c.1672G= , LRG_288t2:c.1672G=	NP_742053.1:p.Ala558=
NM_172057.2:c.652G= , LRG_288t3:c.652G=	NP_742054.1:p.Ala218=
XM_011516185.1:c.1372G=	XP_011514487.1:p.Ala458=
XM_011516186.1:c.1672G=	XP_011514488.1:p.Ala558=
XM_011516185.2:c.1372G=	XP_011514487.1:p.Ala458=
XM_011516186.3:c.1672G=	XP_011514488.1:p.Ala558=
XM_017012195.1:c.1522G=	XP_016867684.1:p.Ala508=
XM_017012196.1:c.1495G=	XP_016867685.1:p.Ala499=
NM_000238.4:c.1672G= MANE Select	NP_000229.1:p.Ala558=
NM_001204798.2:c.652G=	NP_001191727.1:p.Ala218=
NM_172057.3:c.652G=	NP_742054.1:p.Ala218=