Canonical Allele Identifier: CA1752433374

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950204C= , CM000669.2:g.150950204C=	GRCh38
NC_000007.13:g.150647292C= , CM000669.1:g.150647292C=	GRCh37
NC_000007.12:g.150278225C=	NCBI36
NG_008916.1:g.32723G= , LRG_288:g.32723G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1660G=
ENST00000684241.1:n.3195G=
ENST00000262186.10:c.2362G= MANE Select	ENSP00000262186.5:p.Glu788=
ENST00000330883.9:c.1342G=	ENSP00000328531.4:p.Glu448=
ENST00000262186.9:c.2362G=	ENSP00000262186.5:p.Glu788=
ENST00000330883.8:c.1342G=	ENSP00000328531.4:p.Glu448=
ENST00000430723.4:c.2014G=	ENSP00000387657.4:p.Glu672=
ENST00000461280.1:n.1649G=
ENST00000473610.5:n.1994G=
ENST00000532957.5:n.2585G=
NM_000238.3:c.2362G= , LRG_288t1:c.2362G=	NP_000229.1:p.Glu788=
NM_001204798.1:c.1342G=	NP_001191727.1:p.Glu448=
NM_172056.2:c.2362G= , LRG_288t2:c.2362G=	NP_742053.1:p.Glu788=
NM_172057.2:c.1342G= , LRG_288t3:c.1342G=	NP_742054.1:p.Glu448=
XM_011516185.1:c.2062G=	XP_011514487.1:p.Glu688=
XM_011516186.1:c.2362G=	XP_011514488.1:p.Glu788=
XM_011516185.2:c.2062G=	XP_011514487.1:p.Glu688=
XM_011516186.3:c.2362G=	XP_011514488.1:p.Glu788=
XM_017012195.1:c.2212G=	XP_016867684.1:p.Glu738=
XM_017012196.1:c.2185G=	XP_016867685.1:p.Glu729=
NM_000238.4:c.2362G= MANE Select	NP_000229.1:p.Glu788=
NM_001204798.2:c.1342G=	NP_001191727.1:p.Glu448=
NM_172057.3:c.1342G=	NP_742054.1:p.Glu448=