Canonical Allele Identifier: CA1752441193

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974882C= , CM000669.2:g.150974882C=	GRCh38
NC_000007.13:g.150671970C= , CM000669.1:g.150671970C=	GRCh37
NC_000007.12:g.150302903C=	NCBI36
NG_008916.1:g.8045G= , LRG_288:g.8045G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.136G= MANE Select	ENSP00000262186.5:p.Asp46=
ENST00000262186.9:c.136G=	ENSP00000262186.5:p.Asp46=
ENST00000430723.4:c.-42G=	ENSP00000387657.4:n.-42G=
ENST00000532957.5:n.359G=
NM_000238.3:c.136G= , LRG_288t1:c.136G=	NP_000229.1:p.Asp46=
NM_172056.2:c.136G= , LRG_288t2:c.136G=	NP_742053.1:p.Asp46=
XM_011516186.1:c.136G=	XP_011514488.1:p.Asp46=
XM_011516186.3:c.136G=	XP_011514488.1:p.Asp46=
XM_017012196.1:c.-42G=	XP_016867685.1:n.-42G=
NM_000238.4:c.136G= MANE Select	NP_000229.1:p.Asp46=