Canonical Allele Identifier: CA1752412119

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952723T= , CM000669.2:g.150952723T=	GRCh38
NC_000007.13:g.150649811T= , CM000669.1:g.150649811T=	GRCh37
NC_000007.12:g.150280744T=	NCBI36
NG_008916.1:g.30204A= , LRG_288:g.30204A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.557A=
ENST00000684116.1:n.152A=
ENST00000684241.1:n.2092A=
ENST00000262186.10:c.1259A= MANE Select	ENSP00000262186.5:p.Tyr420=
ENST00000330883.9:c.239A=	ENSP00000328531.4:p.Tyr80=
ENST00000262186.9:c.1259A=	ENSP00000262186.5:p.Tyr420=
ENST00000330883.8:c.239A=	ENSP00000328531.4:p.Tyr80=
ENST00000430723.4:c.911A=	ENSP00000387657.4:p.Tyr304=
ENST00000461280.1:n.546A=
ENST00000473610.5:n.564A=
ENST00000532957.5:n.1482A=
NM_000238.3:c.1259A= , LRG_288t1:c.1259A=	NP_000229.1:p.Tyr420=
NM_001204798.1:c.239A=	NP_001191727.1:p.Tyr80=
NM_172056.2:c.1259A= , LRG_288t2:c.1259A=	NP_742053.1:p.Tyr420=
NM_172057.2:c.239A= , LRG_288t3:c.239A=	NP_742054.1:p.Tyr80=
XM_011516185.1:c.959A=	XP_011514487.1:p.Tyr320=
XM_011516186.1:c.1259A=	XP_011514488.1:p.Tyr420=
XM_011516185.2:c.959A=	XP_011514487.1:p.Tyr320=
XM_011516186.3:c.1259A=	XP_011514488.1:p.Tyr420=
XM_017012195.1:c.1109A=	XP_016867684.1:p.Tyr370=
XM_017012196.1:c.1082A=	XP_016867685.1:p.Tyr361=
NM_000238.4:c.1259A= MANE Select	NP_000229.1:p.Tyr420=
NM_001204798.2:c.239A=	NP_001191727.1:p.Tyr80=
NM_172057.3:c.239A=	NP_742054.1:p.Tyr80=