Canonical Allele Identifier: CA1752433285

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950167C= , CM000669.2:g.150950167C=	GRCh38
NC_000007.13:g.150647255C= , CM000669.1:g.150647255C=	GRCh37
NC_000007.12:g.150278188C=	NCBI36
NG_008916.1:g.32760G= , LRG_288:g.32760G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1697G=
ENST00000684241.1:n.3231+1G=
ENST00000262186.10:c.2398+1G= MANE Select	ENSP00000262186.5:n.2398+1G=
ENST00000330883.9:c.1378+1G=	ENSP00000328531.4:n.1378+1G=
ENST00000262186.9:c.2398+1G=	ENSP00000262186.5:n.2398+1G=
ENST00000330883.8:c.1378+1G=	ENSP00000328531.4:n.1378+1G=
ENST00000430723.4:c.2051G=	ENSP00000387657.4:p.Gly684=
ENST00000461280.1:n.1686G=
ENST00000473610.5:n.2031G=
ENST00000532957.5:n.2622G=
NM_000238.3:c.2398+1G= , LRG_288t1:c.2398+1G=	NP_000229.1:n.2398+1G=
NM_001204798.1:c.1379G=	NP_001191727.1:p.Gly460=
NM_172056.2:c.2399G= , LRG_288t2:c.2399G=	NP_742053.1:p.Gly800=
NM_172057.2:c.1378+1G= , LRG_288t3:c.1378+1G=	NP_742054.1:n.1378+1G=
XM_011516185.1:c.2098+1G=	XP_011514487.1:n.2098+1G=
XM_011516186.1:c.2398+1G=	XP_011514488.1:n.2398+1G=
XM_011516185.2:c.2098+1G=	XP_011514487.1:n.2098+1G=
XM_011516186.3:c.2398+1G=	XP_011514488.1:n.2398+1G=
XM_017012195.1:c.2248+1G=	XP_016867684.1:n.2248+1G=
XM_017012196.1:c.2221+1G=	XP_016867685.1:n.2221+1G=
NM_000238.4:c.2398+1G= MANE Select	NP_000229.1:n.2398+1G=
NM_001204798.2:c.1379G=	NP_001191727.1:p.Gly460=
NM_172057.3:c.1378+1G=	NP_742054.1:n.1378+1G=