Canonical Allele Identifier: CA1752410097

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951597C= , CM000669.2:g.150951597C=	GRCh38
NC_000007.13:g.150648685C= , CM000669.1:g.150648685C=	GRCh37
NC_000007.12:g.150279618C=	NCBI36
NG_008916.1:g.31330G= , LRG_288:g.31330G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1094G=
ENST00000684241.1:n.2629G=
ENST00000262186.10:c.1796G= MANE Select	ENSP00000262186.5:p.Ser599=
ENST00000330883.9:c.776G=	ENSP00000328531.4:p.Ser259=
ENST00000262186.9:c.1796G=	ENSP00000262186.5:p.Ser599=
ENST00000330883.8:c.776G=	ENSP00000328531.4:p.Ser259=
ENST00000430723.4:c.1448G=	ENSP00000387657.4:p.Ser483=
ENST00000461280.1:n.1083G=
ENST00000473610.5:n.1101G=
ENST00000532957.5:n.2019G=
NM_000238.3:c.1796G= , LRG_288t1:c.1796G=	NP_000229.1:p.Ser599=
NM_001204798.1:c.776G=	NP_001191727.1:p.Ser259=
NM_172056.2:c.1796G= , LRG_288t2:c.1796G=	NP_742053.1:p.Ser599=
NM_172057.2:c.776G= , LRG_288t3:c.776G=	NP_742054.1:p.Ser259=
XM_011516185.1:c.1496G=	XP_011514487.1:p.Ser499=
XM_011516186.1:c.1796G=	XP_011514488.1:p.Ser599=
XM_011516185.2:c.1496G=	XP_011514487.1:p.Ser499=
XM_011516186.3:c.1796G=	XP_011514488.1:p.Ser599=
XM_017012195.1:c.1646G=	XP_016867684.1:p.Ser549=
XM_017012196.1:c.1619G=	XP_016867685.1:p.Ser540=
NM_000238.4:c.1796G= MANE Select	NP_000229.1:p.Ser599=
NM_001204798.2:c.776G=	NP_001191727.1:p.Ser259=
NM_172057.3:c.776G=	NP_742054.1:p.Ser259=