Canonical Allele Identifier: CA1752433543

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950311C= , CM000669.2:g.150950311C=	GRCh38
NC_000007.13:g.150647399C= , CM000669.1:g.150647399C=	GRCh37
NC_000007.12:g.150278332C=	NCBI36
NG_008916.1:g.32616G= , LRG_288:g.32616G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1553G=
ENST00000684241.1:n.3088G=
ENST00000262186.10:c.2255G= MANE Select	ENSP00000262186.5:p.Arg752=
ENST00000330883.9:c.1235G=	ENSP00000328531.4:p.Arg412=
ENST00000262186.9:c.2255G=	ENSP00000262186.5:p.Arg752=
ENST00000330883.8:c.1235G=	ENSP00000328531.4:p.Arg412=
ENST00000430723.4:c.1907G=	ENSP00000387657.4:p.Arg636=
ENST00000461280.1:n.1542G=
ENST00000473610.5:n.1887G=
ENST00000532957.5:n.2478G=
NM_000238.3:c.2255G= , LRG_288t1:c.2255G=	NP_000229.1:p.Arg752=
NM_001204798.1:c.1235G=	NP_001191727.1:p.Arg412=
NM_172056.2:c.2255G= , LRG_288t2:c.2255G=	NP_742053.1:p.Arg752=
NM_172057.2:c.1235G= , LRG_288t3:c.1235G=	NP_742054.1:p.Arg412=
XM_011516185.1:c.1955G=	XP_011514487.1:p.Arg652=
XM_011516186.1:c.2255G=	XP_011514488.1:p.Arg752=
XM_011516185.2:c.1955G=	XP_011514487.1:p.Arg652=
XM_011516186.3:c.2255G=	XP_011514488.1:p.Arg752=
XM_017012195.1:c.2105G=	XP_016867684.1:p.Arg702=
XM_017012196.1:c.2078G=	XP_016867685.1:p.Arg693=
NM_000238.4:c.2255G= MANE Select	NP_000229.1:p.Arg752=
NM_001204798.2:c.1235G=	NP_001191727.1:p.Arg412=
NM_172057.3:c.1235G=	NP_742054.1:p.Arg412=