Canonical Allele Identifier: CA1752429684
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947606C= , CM000669.2:g.150947606C= GRCh38
NC_000007.13:g.150644694C= , CM000669.1:g.150644694C= GRCh37
NC_000007.12:g.150275627C= NCBI36
NG_008916.1:g.35321G= , LRG_288:g.35321G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3798G=
ENST00000262186.10:c.2965G= MANE Select ENSP00000262186.5:p.Gly989=
ENST00000330883.9:c.1945G= ENSP00000328531.4:p.Gly649=
ENST00000262186.9:c.2965G= ENSP00000262186.5:p.Gly989=
ENST00000330883.8:c.1945G= ENSP00000328531.4:p.Gly649=
NM_000238.3:c.2965G= , LRG_288t1:c.2965G= NP_000229.1:p.Gly989=
NM_172057.2:c.1945G= , LRG_288t3:c.1945G= NP_742054.1:p.Gly649=
XM_011516185.1:c.2665G= XP_011514487.1:p.Gly889=
XM_011516186.1:c.*45G= XP_011514488.1:n.*45G=
XM_011516185.2:c.2665G= XP_011514487.1:p.Gly889=
XM_011516186.3:c.*45G= XP_011514488.1:n.*45G=
XM_017012195.1:c.2815G= XP_016867684.1:p.Gly939=
XM_017012196.1:c.2788G= XP_016867685.1:p.Gly930=
NM_000238.4:c.2965G= MANE Select NP_000229.1:p.Gly989=
NM_172057.3:c.1945G= NP_742054.1:p.Gly649=