Canonical Allele Identifier: CA1752433529

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950305A= , CM000669.2:g.150950305A=	GRCh38
NC_000007.13:g.150647393A= , CM000669.1:g.150647393A=	GRCh37
NC_000007.12:g.150278326A=	NCBI36
NG_008916.1:g.32622T= , LRG_288:g.32622T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1559T=
ENST00000684241.1:n.3094T=
ENST00000262186.10:c.2261T= MANE Select	ENSP00000262186.5:p.Leu754=
ENST00000330883.9:c.1241T=	ENSP00000328531.4:p.Leu414=
ENST00000262186.9:c.2261T=	ENSP00000262186.5:p.Leu754=
ENST00000330883.8:c.1241T=	ENSP00000328531.4:p.Leu414=
ENST00000430723.4:c.1913T=	ENSP00000387657.4:p.Leu638=
ENST00000461280.1:n.1548T=
ENST00000473610.5:n.1893T=
ENST00000532957.5:n.2484T=
NM_000238.3:c.2261T= , LRG_288t1:c.2261T=	NP_000229.1:p.Leu754=
NM_001204798.1:c.1241T=	NP_001191727.1:p.Leu414=
NM_172056.2:c.2261T= , LRG_288t2:c.2261T=	NP_742053.1:p.Leu754=
NM_172057.2:c.1241T= , LRG_288t3:c.1241T=	NP_742054.1:p.Leu414=
XM_011516185.1:c.1961T=	XP_011514487.1:p.Leu654=
XM_011516186.1:c.2261T=	XP_011514488.1:p.Leu754=
XM_011516185.2:c.1961T=	XP_011514487.1:p.Leu654=
XM_011516186.3:c.2261T=	XP_011514488.1:p.Leu754=
XM_017012195.1:c.2111T=	XP_016867684.1:p.Leu704=
XM_017012196.1:c.2084T=	XP_016867685.1:p.Leu695=
NM_000238.4:c.2261T= MANE Select	NP_000229.1:p.Leu754=
NM_001204798.2:c.1241T=	NP_001191727.1:p.Leu414=
NM_172057.3:c.1241T=	NP_742054.1:p.Leu414=