Canonical Allele Identifier: CA1752418233
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958261G= , CM000669.2:g.150958261G= GRCh38
NC_000007.13:g.150655349G= , CM000669.1:g.150655349G= GRCh37
NC_000007.12:g.150286282G= NCBI36
NG_008916.1:g.24666C= , LRG_288:g.24666C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1547C=
ENST00000262186.10:c.714C= MANE Select ENSP00000262186.5:p.Gly238=
ENST00000262186.9:c.714C= ENSP00000262186.5:p.Gly238=
ENST00000430723.4:c.366C= ENSP00000387657.4:p.Gly122=
ENST00000532957.5:n.937C=
NM_000238.3:c.714C= , LRG_288t1:c.714C= NP_000229.1:p.Gly238=
NM_172056.2:c.714C= , LRG_288t2:c.714C= NP_742053.1:p.Gly238=
XM_011516185.1:c.414C= XP_011514487.1:p.Gly138=
XM_011516186.1:c.714C= XP_011514488.1:p.Gly238=
XM_011516185.2:c.414C= XP_011514487.1:p.Gly138=
XM_011516186.3:c.714C= XP_011514488.1:p.Gly238=
XM_017012195.1:c.564C= XP_016867684.1:p.Gly188=
XM_017012196.1:c.537C= XP_016867685.1:p.Gly179=
NM_000238.4:c.714C= MANE Select NP_000229.1:p.Gly238=