Canonical Allele Identifier: CA1752434382

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951067A= , CM000669.2:g.150951067A=	GRCh38
NC_000007.13:g.150648155A= , CM000669.1:g.150648155A=	GRCh37
NC_000007.12:g.150279088A=	NCBI36
NG_008916.1:g.31860T= , LRG_288:g.31860T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1297T=
ENST00000683359.1:n.123T=
ENST00000684241.1:n.2832T=
ENST00000262186.10:c.1999T= MANE Select	ENSP00000262186.5:p.Tyr667=
ENST00000330883.9:c.979T=	ENSP00000328531.4:p.Tyr327=
ENST00000262186.9:c.1999T=	ENSP00000262186.5:p.Tyr667=
ENST00000330883.8:c.979T=	ENSP00000328531.4:p.Tyr327=
ENST00000430723.4:c.1651T=	ENSP00000387657.4:p.Tyr551=
ENST00000461280.1:n.1286T=
ENST00000473610.5:n.1631T=
ENST00000532957.5:n.2222T=
NM_000238.3:c.1999T= , LRG_288t1:c.1999T=	NP_000229.1:p.Tyr667=
NM_001204798.1:c.979T=	NP_001191727.1:p.Tyr327=
NM_172056.2:c.1999T= , LRG_288t2:c.1999T=	NP_742053.1:p.Tyr667=
NM_172057.2:c.979T= , LRG_288t3:c.979T=	NP_742054.1:p.Tyr327=
XM_011516185.1:c.1699T=	XP_011514487.1:p.Tyr567=
XM_011516186.1:c.1999T=	XP_011514488.1:p.Tyr667=
XM_011516185.2:c.1699T=	XP_011514487.1:p.Tyr567=
XM_011516186.3:c.1999T=	XP_011514488.1:p.Tyr667=
XM_017012195.1:c.1849T=	XP_016867684.1:p.Tyr617=
XM_017012196.1:c.1822T=	XP_016867685.1:p.Tyr608=
NM_000238.4:c.1999T= MANE Select	NP_000229.1:p.Tyr667=
NM_001204798.2:c.979T=	NP_001191727.1:p.Tyr327=
NM_172057.3:c.979T=	NP_742054.1:p.Tyr327=