Canonical Allele Identifier: CA1752411505

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952457C= , CM000669.2:g.150952457C=	GRCh38
NC_000007.13:g.150649545C= , CM000669.1:g.150649545C=	GRCh37
NC_000007.12:g.150280478C=	NCBI36
NG_008916.1:g.30470G= , LRG_288:g.30470G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.823G=
ENST00000684116.1:n.418G=
ENST00000684241.1:n.2358G=
ENST00000262186.10:c.1525G= MANE Select	ENSP00000262186.5:p.Asp509=
ENST00000330883.9:c.505G=	ENSP00000328531.4:p.Asp169=
ENST00000262186.9:c.1525G=	ENSP00000262186.5:p.Asp509=
ENST00000330883.8:c.505G=	ENSP00000328531.4:p.Asp169=
ENST00000430723.4:c.1177G=	ENSP00000387657.4:p.Asp393=
ENST00000461280.1:n.812G=
ENST00000473610.5:n.830G=
ENST00000532957.5:n.1748G=
NM_000238.3:c.1525G= , LRG_288t1:c.1525G=	NP_000229.1:p.Asp509=
NM_001204798.1:c.505G=	NP_001191727.1:p.Asp169=
NM_172056.2:c.1525G= , LRG_288t2:c.1525G=	NP_742053.1:p.Asp509=
NM_172057.2:c.505G= , LRG_288t3:c.505G=	NP_742054.1:p.Asp169=
XM_011516185.1:c.1225G=	XP_011514487.1:p.Asp409=
XM_011516186.1:c.1525G=	XP_011514488.1:p.Asp509=
XM_011516185.2:c.1225G=	XP_011514487.1:p.Asp409=
XM_011516186.3:c.1525G=	XP_011514488.1:p.Asp509=
XM_017012195.1:c.1375G=	XP_016867684.1:p.Asp459=
XM_017012196.1:c.1348G=	XP_016867685.1:p.Asp450=
NM_000238.4:c.1525G= MANE Select	NP_000229.1:p.Asp509=
NM_001204798.2:c.505G=	NP_001191727.1:p.Asp169=
NM_172057.3:c.505G=	NP_742054.1:p.Asp169=