Canonical Allele Identifier: CA1752416759

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957394T= , CM000669.2:g.150957394T=	GRCh38
NC_000007.13:g.150654482T= , CM000669.1:g.150654482T=	GRCh37
NC_000007.12:g.150285415T=	NCBI36
NG_008916.1:g.25533A= , LRG_288:g.25533A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1858A=
ENST00000262186.10:c.1025A= MANE Select	ENSP00000262186.5:p.Asp342=
ENST00000262186.9:c.1025A=	ENSP00000262186.5:p.Asp342=
ENST00000430723.4:c.677A=	ENSP00000387657.4:p.Asp226=
ENST00000532957.5:n.1248A=
NM_000238.3:c.1025A= , LRG_288t1:c.1025A=	NP_000229.1:p.Asp342=
NM_172056.2:c.1025A= , LRG_288t2:c.1025A=	NP_742053.1:p.Asp342=
XM_011516185.1:c.725A=	XP_011514487.1:p.Asp242=
XM_011516186.1:c.1025A=	XP_011514488.1:p.Asp342=
XM_011516185.2:c.725A=	XP_011514487.1:p.Asp242=
XM_011516186.3:c.1025A=	XP_011514488.1:p.Asp342=
XM_017012195.1:c.875A=	XP_016867684.1:p.Asp292=
XM_017012196.1:c.848A=	XP_016867685.1:p.Asp283=
NM_000238.4:c.1025A= MANE Select	NP_000229.1:p.Asp342=