Canonical Allele Identifier: CA1752409875

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951562A= , CM000669.2:g.150951562A=	GRCh38
NC_000007.13:g.150648650A= , CM000669.1:g.150648650A=	GRCh37
NC_000007.12:g.150279583A=	NCBI36
NG_008916.1:g.31365T= , LRG_288:g.31365T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1129T=
ENST00000684241.1:n.2664T=
ENST00000262186.10:c.1831T= MANE Select	ENSP00000262186.5:p.Tyr611=
ENST00000330883.9:c.811T=	ENSP00000328531.4:p.Tyr271=
ENST00000262186.9:c.1831T=	ENSP00000262186.5:p.Tyr611=
ENST00000330883.8:c.811T=	ENSP00000328531.4:p.Tyr271=
ENST00000430723.4:c.1483T=	ENSP00000387657.4:p.Tyr495=
ENST00000461280.1:n.1118T=
ENST00000473610.5:n.1136T=
ENST00000532957.5:n.2054T=
NM_000238.3:c.1831T= , LRG_288t1:c.1831T=	NP_000229.1:p.Tyr611=
NM_001204798.1:c.811T=	NP_001191727.1:p.Tyr271=
NM_172056.2:c.1831T= , LRG_288t2:c.1831T=	NP_742053.1:p.Tyr611=
NM_172057.2:c.811T= , LRG_288t3:c.811T=	NP_742054.1:p.Tyr271=
XM_011516185.1:c.1531T=	XP_011514487.1:p.Tyr511=
XM_011516186.1:c.1831T=	XP_011514488.1:p.Tyr611=
XM_011516185.2:c.1531T=	XP_011514487.1:p.Tyr511=
XM_011516186.3:c.1831T=	XP_011514488.1:p.Tyr611=
XM_017012195.1:c.1681T=	XP_016867684.1:p.Tyr561=
XM_017012196.1:c.1654T=	XP_016867685.1:p.Tyr552=
NM_000238.4:c.1831T= MANE Select	NP_000229.1:p.Tyr611=
NM_001204798.2:c.811T=	NP_001191727.1:p.Tyr271=
NM_172057.3:c.811T=	NP_742054.1:p.Tyr271=