Canonical Allele Identifier: CA1752434390

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951072C= , CM000669.2:g.150951072C=	GRCh38
NC_000007.13:g.150648160C= , CM000669.1:g.150648160C=	GRCh37
NC_000007.12:g.150279093C=	NCBI36
NG_008916.1:g.31855G= , LRG_288:g.31855G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1292G=
ENST00000683359.1:n.118G=
ENST00000684241.1:n.2827G=
ENST00000262186.10:c.1994G= MANE Select	ENSP00000262186.5:p.Arg665=
ENST00000330883.9:c.974G=	ENSP00000328531.4:p.Arg325=
ENST00000262186.9:c.1994G=	ENSP00000262186.5:p.Arg665=
ENST00000330883.8:c.974G=	ENSP00000328531.4:p.Arg325=
ENST00000430723.4:c.1646G=	ENSP00000387657.4:p.Arg549=
ENST00000461280.1:n.1281G=
ENST00000473610.5:n.1626G=
ENST00000532957.5:n.2217G=
NM_000238.3:c.1994G= , LRG_288t1:c.1994G=	NP_000229.1:p.Arg665=
NM_001204798.1:c.974G=	NP_001191727.1:p.Arg325=
NM_172056.2:c.1994G= , LRG_288t2:c.1994G=	NP_742053.1:p.Arg665=
NM_172057.2:c.974G= , LRG_288t3:c.974G=	NP_742054.1:p.Arg325=
XM_011516185.1:c.1694G=	XP_011514487.1:p.Arg565=
XM_011516186.1:c.1994G=	XP_011514488.1:p.Arg665=
XM_011516185.2:c.1694G=	XP_011514487.1:p.Arg565=
XM_011516186.3:c.1994G=	XP_011514488.1:p.Arg665=
XM_017012195.1:c.1844G=	XP_016867684.1:p.Arg615=
XM_017012196.1:c.1817G=	XP_016867685.1:p.Arg606=
NM_000238.4:c.1994G= MANE Select	NP_000229.1:p.Arg665=
NM_001204798.2:c.974G=	NP_001191727.1:p.Arg325=
NM_172057.3:c.974G=	NP_742054.1:p.Arg325=