Canonical Allele Identifier: CA1752418128
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958221G= , CM000669.2:g.150958221G= GRCh38
NC_000007.13:g.150655309G= , CM000669.1:g.150655309G= GRCh37
NC_000007.12:g.150286242G= NCBI36
NG_008916.1:g.24706C= , LRG_288:g.24706C=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1587C=
ENST00000262186.10:c.754C= MANE Select ENSP00000262186.5:p.Arg252=
ENST00000262186.9:c.754C= ENSP00000262186.5:p.Arg252=
ENST00000430723.4:c.406C= ENSP00000387657.4:p.Arg136=
ENST00000532957.5:n.977C=
NM_000238.3:c.754C= , LRG_288t1:c.754C= NP_000229.1:p.Arg252=
NM_172056.2:c.754C= , LRG_288t2:c.754C= NP_742053.1:p.Arg252=
XM_011516185.1:c.454C= XP_011514487.1:p.Arg152=
XM_011516186.1:c.754C= XP_011514488.1:p.Arg252=
XM_011516185.2:c.454C= XP_011514487.1:p.Arg152=
XM_011516186.3:c.754C= XP_011514488.1:p.Arg252=
XM_017012195.1:c.604C= XP_016867684.1:p.Arg202=
XM_017012196.1:c.577C= XP_016867685.1:p.Arg193=
NM_000238.4:c.754C= MANE Select NP_000229.1:p.Arg252=