Canonical Allele Identifier: CA1752418236
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958262C= , CM000669.2:g.150958262C= GRCh38
NC_000007.13:g.150655350C= , CM000669.1:g.150655350C= GRCh37
NC_000007.12:g.150286283C= NCBI36
NG_008916.1:g.24665G= , LRG_288:g.24665G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1546G=
ENST00000262186.10:c.713G= MANE Select ENSP00000262186.5:p.Gly238=
ENST00000262186.9:c.713G= ENSP00000262186.5:p.Gly238=
ENST00000430723.4:c.365G= ENSP00000387657.4:p.Gly122=
ENST00000532957.5:n.936G=
NM_000238.3:c.713G= , LRG_288t1:c.713G= NP_000229.1:p.Gly238=
NM_172056.2:c.713G= , LRG_288t2:c.713G= NP_742053.1:p.Gly238=
XM_011516185.1:c.413G= XP_011514487.1:p.Gly138=
XM_011516186.1:c.713G= XP_011514488.1:p.Gly238=
XM_011516185.2:c.413G= XP_011514487.1:p.Gly138=
XM_011516186.3:c.713G= XP_011514488.1:p.Gly238=
XM_017012195.1:c.563G= XP_016867684.1:p.Gly188=
XM_017012196.1:c.536G= XP_016867685.1:p.Gly179=
NM_000238.4:c.713G= MANE Select NP_000229.1:p.Gly238=