Canonical Allele Identifier: CA1752434416

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951091C= , CM000669.2:g.150951091C=	GRCh38
NC_000007.13:g.150648179C= , CM000669.1:g.150648179C=	GRCh37
NC_000007.12:g.150279112C=	NCBI36
NG_008916.1:g.31836G= , LRG_288:g.31836G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1273G=
ENST00000683359.1:n.99G=
ENST00000684241.1:n.2808G=
ENST00000262186.10:c.1975G= MANE Select	ENSP00000262186.5:p.Val659=
ENST00000330883.9:c.955G=	ENSP00000328531.4:p.Val319=
ENST00000262186.9:c.1975G=	ENSP00000262186.5:p.Val659=
ENST00000330883.8:c.955G=	ENSP00000328531.4:p.Val319=
ENST00000430723.4:c.1627G=	ENSP00000387657.4:p.Val543=
ENST00000461280.1:n.1262G=
ENST00000473610.5:n.1607G=
ENST00000532957.5:n.2198G=
NM_000238.3:c.1975G= , LRG_288t1:c.1975G=	NP_000229.1:p.Val659=
NM_001204798.1:c.955G=	NP_001191727.1:p.Val319=
NM_172056.2:c.1975G= , LRG_288t2:c.1975G=	NP_742053.1:p.Val659=
NM_172057.2:c.955G= , LRG_288t3:c.955G=	NP_742054.1:p.Val319=
XM_011516185.1:c.1675G=	XP_011514487.1:p.Val559=
XM_011516186.1:c.1975G=	XP_011514488.1:p.Val659=
XM_011516185.2:c.1675G=	XP_011514487.1:p.Val559=
XM_011516186.3:c.1975G=	XP_011514488.1:p.Val659=
XM_017012195.1:c.1825G=	XP_016867684.1:p.Val609=
XM_017012196.1:c.1798G=	XP_016867685.1:p.Val600=
NM_000238.4:c.1975G= MANE Select	NP_000229.1:p.Val659=
NM_001204798.2:c.955G=	NP_001191727.1:p.Val319=
NM_172057.3:c.955G=	NP_742054.1:p.Val319=