Canonical Allele Identifier: CA1752410119

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951607G= , CM000669.2:g.150951607G=	GRCh38
NC_000007.13:g.150648695G= , CM000669.1:g.150648695G=	GRCh37
NC_000007.12:g.150279628G=	NCBI36
NG_008916.1:g.31320C= , LRG_288:g.31320C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1084C=
ENST00000684241.1:n.2619C=
ENST00000262186.10:c.1786C= MANE Select	ENSP00000262186.5:p.Pro596=
ENST00000330883.9:c.766C=	ENSP00000328531.4:p.Pro256=
ENST00000262186.9:c.1786C=	ENSP00000262186.5:p.Pro596=
ENST00000330883.8:c.766C=	ENSP00000328531.4:p.Pro256=
ENST00000430723.4:c.1438C=	ENSP00000387657.4:p.Pro480=
ENST00000461280.1:n.1073C=
ENST00000473610.5:n.1091C=
ENST00000532957.5:n.2009C=
NM_000238.3:c.1786C= , LRG_288t1:c.1786C=	NP_000229.1:p.Pro596=
NM_001204798.1:c.766C=	NP_001191727.1:p.Pro256=
NM_172056.2:c.1786C= , LRG_288t2:c.1786C=	NP_742053.1:p.Pro596=
NM_172057.2:c.766C= , LRG_288t3:c.766C=	NP_742054.1:p.Pro256=
XM_011516185.1:c.1486C=	XP_011514487.1:p.Pro496=
XM_011516186.1:c.1786C=	XP_011514488.1:p.Pro596=
XM_011516185.2:c.1486C=	XP_011514487.1:p.Pro496=
XM_011516186.3:c.1786C=	XP_011514488.1:p.Pro596=
XM_017012195.1:c.1636C=	XP_016867684.1:p.Pro546=
XM_017012196.1:c.1609C=	XP_016867685.1:p.Pro537=
NM_000238.4:c.1786C= MANE Select	NP_000229.1:p.Pro596=
NM_001204798.2:c.766C=	NP_001191727.1:p.Pro256=
NM_172057.3:c.766C=	NP_742054.1:p.Pro256=