Canonical Allele Identifier: CA1752433433

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950246C= , CM000669.2:g.150950246C=	GRCh38
NC_000007.13:g.150647334C= , CM000669.1:g.150647334C=	GRCh37
NC_000007.12:g.150278267C=	NCBI36
NG_008916.1:g.32681G= , LRG_288:g.32681G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2320G= MANE Select	NP_000229.1:p.Asp774=
ENST00000262186.10:c.2320G= MANE Select	ENSP00000262186.5:p.Asp774=
NM_000238.3:c.2320G= , LRG_288t1:c.2320G=	NP_000229.1:p.Asp774=
NM_001204798.1:c.1300G=	NP_001191727.1:p.Asp434=
NM_001204798.2:c.1300G=	NP_001191727.1:p.Asp434=
NM_172056.2:c.2320G= , LRG_288t2:c.2320G=	NP_742053.1:p.Asp774=
NM_172057.2:c.1300G= , LRG_288t3:c.1300G=	NP_742054.1:p.Asp434=
NM_172057.3:c.1300G=	NP_742054.1:p.Asp434=
ENST00000262186.9:c.2320G=	ENSP00000262186.5:p.Asp774=
ENST00000330883.8:c.1300G=	ENSP00000328531.4:p.Asp434=
ENST00000330883.9:c.1300G=	ENSP00000328531.4:p.Asp434=
ENST00000430723.4:c.1972G=	ENSP00000387657.4:p.Asp658=
ENST00000461280.1:n.1607G=
ENST00000461280.2:n.1618G=
ENST00000473610.5:n.1952G=
ENST00000532957.5:n.2543G=
ENST00000684241.1:n.3153G=
XM_011516185.1:c.2020G=	XP_011514487.1:p.Asp674=
XM_011516185.2:c.2020G=	XP_011514487.1:p.Asp674=
XM_011516186.1:c.2320G=	XP_011514488.1:p.Asp774=
XM_011516186.3:c.2320G=	XP_011514488.1:p.Asp774=
XM_017012195.1:c.2170G=	XP_016867684.1:p.Asp724=
XM_017012196.1:c.2143G=	XP_016867685.1:p.Asp715=