Canonical Allele Identifier: CA1752409452

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951495T= , CM000669.2:g.150951495T=	GRCh38
NC_000007.13:g.150648583T= , CM000669.1:g.150648583T=	GRCh37
NC_000007.12:g.150279516T=	NCBI36
NG_008916.1:g.31432A= , LRG_288:g.31432A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1196A=
ENST00000683359.1:n.22A=
ENST00000684241.1:n.2731A=
ENST00000262186.10:c.1898A= MANE Select	ENSP00000262186.5:p.Asn633=
ENST00000330883.9:c.878A=	ENSP00000328531.4:p.Asn293=
ENST00000262186.9:c.1898A=	ENSP00000262186.5:p.Asn633=
ENST00000330883.8:c.878A=	ENSP00000328531.4:p.Asn293=
ENST00000430723.4:c.1550A=	ENSP00000387657.4:p.Asn517=
ENST00000461280.1:n.1185A=
ENST00000473610.5:n.1203A=
ENST00000532957.5:n.2121A=
NM_000238.3:c.1898A= , LRG_288t1:c.1898A=	NP_000229.1:p.Asn633=
NM_001204798.1:c.878A=	NP_001191727.1:p.Asn293=
NM_172056.2:c.1898A= , LRG_288t2:c.1898A=	NP_742053.1:p.Asn633=
NM_172057.2:c.878A= , LRG_288t3:c.878A=	NP_742054.1:p.Asn293=
XM_011516185.1:c.1598A=	XP_011514487.1:p.Asn533=
XM_011516186.1:c.1898A=	XP_011514488.1:p.Asn633=
XM_011516185.2:c.1598A=	XP_011514487.1:p.Asn533=
XM_011516186.3:c.1898A=	XP_011514488.1:p.Asn633=
XM_017012195.1:c.1748A=	XP_016867684.1:p.Asn583=
XM_017012196.1:c.1721A=	XP_016867685.1:p.Asn574=
NM_000238.4:c.1898A= MANE Select	NP_000229.1:p.Asn633=
NM_001204798.2:c.878A=	NP_001191727.1:p.Asn293=
NM_172057.3:c.878A=	NP_742054.1:p.Asn293=