Canonical Allele Identifier: CA1752418240
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958263C= , CM000669.2:g.150958263C= GRCh38
NC_000007.13:g.150655351C= , CM000669.1:g.150655351C= GRCh37
NC_000007.12:g.150286284C= NCBI36
NG_008916.1:g.24664G= , LRG_288:g.24664G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1545G=
ENST00000262186.10:c.712G= MANE Select ENSP00000262186.5:p.Gly238=
ENST00000262186.9:c.712G= ENSP00000262186.5:p.Gly238=
ENST00000430723.4:c.364G= ENSP00000387657.4:p.Gly122=
ENST00000532957.5:n.935G=
NM_000238.3:c.712G= , LRG_288t1:c.712G= NP_000229.1:p.Gly238=
NM_172056.2:c.712G= , LRG_288t2:c.712G= NP_742053.1:p.Gly238=
XM_011516185.1:c.412G= XP_011514487.1:p.Gly138=
XM_011516186.1:c.712G= XP_011514488.1:p.Gly238=
XM_011516185.2:c.412G= XP_011514487.1:p.Gly138=
XM_011516186.3:c.712G= XP_011514488.1:p.Gly238=
XM_017012195.1:c.562G= XP_016867684.1:p.Gly188=
XM_017012196.1:c.535G= XP_016867685.1:p.Gly179=
NM_000238.4:c.712G= MANE Select NP_000229.1:p.Gly238=