Canonical Allele Identifier: CA1752411617

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952504T= , CM000669.2:g.150952504T=	GRCh38
NC_000007.13:g.150649592T= , CM000669.1:g.150649592T=	GRCh37
NC_000007.12:g.150280525T=	NCBI36
NG_008916.1:g.30423A= , LRG_288:g.30423A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.776A=
ENST00000684116.1:n.371A=
ENST00000684241.1:n.2311A=
ENST00000262186.10:c.1478A= MANE Select	ENSP00000262186.5:p.Tyr493=
ENST00000330883.9:c.458A=	ENSP00000328531.4:p.Tyr153=
ENST00000262186.9:c.1478A=	ENSP00000262186.5:p.Tyr493=
ENST00000330883.8:c.458A=	ENSP00000328531.4:p.Tyr153=
ENST00000430723.4:c.1130A=	ENSP00000387657.4:p.Tyr377=
ENST00000461280.1:n.765A=
ENST00000473610.5:n.783A=
ENST00000532957.5:n.1701A=
NM_000238.3:c.1478A= , LRG_288t1:c.1478A=	NP_000229.1:p.Tyr493=
NM_001204798.1:c.458A=	NP_001191727.1:p.Tyr153=
NM_172056.2:c.1478A= , LRG_288t2:c.1478A=	NP_742053.1:p.Tyr493=
NM_172057.2:c.458A= , LRG_288t3:c.458A=	NP_742054.1:p.Tyr153=
XM_011516185.1:c.1178A=	XP_011514487.1:p.Tyr393=
XM_011516186.1:c.1478A=	XP_011514488.1:p.Tyr493=
XM_011516185.2:c.1178A=	XP_011514487.1:p.Tyr393=
XM_011516186.3:c.1478A=	XP_011514488.1:p.Tyr493=
XM_017012195.1:c.1328A=	XP_016867684.1:p.Tyr443=
XM_017012196.1:c.1301A=	XP_016867685.1:p.Tyr434=
NM_000238.4:c.1478A= MANE Select	NP_000229.1:p.Tyr493=
NM_001204798.2:c.458A=	NP_001191727.1:p.Tyr153=
NM_172057.3:c.458A=	NP_742054.1:p.Tyr153=