Canonical Allele Identifier: CA1752412091

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952716A= , CM000669.2:g.150952716A=	GRCh38
NC_000007.13:g.150649804A= , CM000669.1:g.150649804A=	GRCh37
NC_000007.12:g.150280737A=	NCBI36
NG_008916.1:g.30211T= , LRG_288:g.30211T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.564T=
ENST00000684116.1:n.159T=
ENST00000684241.1:n.2099T=
ENST00000262186.10:c.1266T= MANE Select	ENSP00000262186.5:p.Ala422=
ENST00000330883.9:c.246T=	ENSP00000328531.4:p.Ala82=
ENST00000262186.9:c.1266T=	ENSP00000262186.5:p.Ala422=
ENST00000330883.8:c.246T=	ENSP00000328531.4:p.Ala82=
ENST00000430723.4:c.918T=	ENSP00000387657.4:p.Ala306=
ENST00000461280.1:n.553T=
ENST00000473610.5:n.571T=
ENST00000532957.5:n.1489T=
NM_000238.3:c.1266T= , LRG_288t1:c.1266T=	NP_000229.1:p.Ala422=
NM_001204798.1:c.246T=	NP_001191727.1:p.Ala82=
NM_172056.2:c.1266T= , LRG_288t2:c.1266T=	NP_742053.1:p.Ala422=
NM_172057.2:c.246T= , LRG_288t3:c.246T=	NP_742054.1:p.Ala82=
XM_011516185.1:c.966T=	XP_011514487.1:p.Ala322=
XM_011516186.1:c.1266T=	XP_011514488.1:p.Ala422=
XM_011516185.2:c.966T=	XP_011514487.1:p.Ala322=
XM_011516186.3:c.1266T=	XP_011514488.1:p.Ala422=
XM_017012195.1:c.1116T=	XP_016867684.1:p.Ala372=
XM_017012196.1:c.1089T=	XP_016867685.1:p.Ala363=
NM_000238.4:c.1266T= MANE Select	NP_000229.1:p.Ala422=
NM_001204798.2:c.246T=	NP_001191727.1:p.Ala82=
NM_172057.3:c.246T=	NP_742054.1:p.Ala82=