Canonical Allele Identifier: CA1752433557

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950320C= , CM000669.2:g.150950320C=	GRCh38
NC_000007.13:g.150647408C= , CM000669.1:g.150647408C=	GRCh37
NC_000007.12:g.150278341C=	NCBI36
NG_008916.1:g.32607G= , LRG_288:g.32607G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1544G=
ENST00000684241.1:n.3079G=
ENST00000262186.10:c.2246G= MANE Select	ENSP00000262186.5:p.Gly749=
ENST00000330883.9:c.1226G=	ENSP00000328531.4:p.Gly409=
ENST00000262186.9:c.2246G=	ENSP00000262186.5:p.Gly749=
ENST00000330883.8:c.1226G=	ENSP00000328531.4:p.Gly409=
ENST00000430723.4:c.1898G=	ENSP00000387657.4:p.Gly633=
ENST00000461280.1:n.1533G=
ENST00000473610.5:n.1878G=
ENST00000532957.5:n.2469G=
NM_000238.3:c.2246G= , LRG_288t1:c.2246G=	NP_000229.1:p.Gly749=
NM_001204798.1:c.1226G=	NP_001191727.1:p.Gly409=
NM_172056.2:c.2246G= , LRG_288t2:c.2246G=	NP_742053.1:p.Gly749=
NM_172057.2:c.1226G= , LRG_288t3:c.1226G=	NP_742054.1:p.Gly409=
XM_011516185.1:c.1946G=	XP_011514487.1:p.Gly649=
XM_011516186.1:c.2246G=	XP_011514488.1:p.Gly749=
XM_011516185.2:c.1946G=	XP_011514487.1:p.Gly649=
XM_011516186.3:c.2246G=	XP_011514488.1:p.Gly749=
XM_017012195.1:c.2096G=	XP_016867684.1:p.Gly699=
XM_017012196.1:c.2069G=	XP_016867685.1:p.Gly690=
NM_000238.4:c.2246G= MANE Select	NP_000229.1:p.Gly749=
NM_001204798.2:c.1226G=	NP_001191727.1:p.Gly409=
NM_172057.3:c.1226G=	NP_742054.1:p.Gly409=