Canonical Allele Identifier: CA1752418328

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958290C= , CM000669.2:g.150958290C=	GRCh38
NC_000007.13:g.150655378C= , CM000669.1:g.150655378C=	GRCh37
NC_000007.12:g.150286311C=	NCBI36
NG_008916.1:g.24637G= , LRG_288:g.24637G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.685G= MANE Select	NP_000229.1:p.Glu229=
ENST00000262186.10:c.685G= MANE Select	ENSP00000262186.5:p.Glu229=
NM_000238.3:c.685G= , LRG_288t1:c.685G=	NP_000229.1:p.Glu229=
NM_172056.2:c.685G= , LRG_288t2:c.685G=	NP_742053.1:p.Glu229=
ENST00000262186.9:c.685G=	ENSP00000262186.5:p.Glu229=
ENST00000430723.4:c.337G=	ENSP00000387657.4:p.Glu113=
ENST00000532957.5:n.908G=
ENST00000684241.1:n.1518G=
XM_011516185.1:c.385G=	XP_011514487.1:p.Glu129=
XM_011516185.2:c.385G=	XP_011514487.1:p.Glu129=
XM_011516186.1:c.685G=	XP_011514488.1:p.Glu229=
XM_011516186.3:c.685G=	XP_011514488.1:p.Glu229=
XM_017012195.1:c.535G=	XP_016867684.1:p.Glu179=
XM_017012196.1:c.508G=	XP_016867685.1:p.Glu170=