Canonical Allele Identifier: CA1752434359
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951061C= , CM000669.2:g.150951061C= GRCh38
NC_000007.13:g.150648149C= , CM000669.1:g.150648149C= GRCh37
NC_000007.12:g.150279082C= NCBI36
NG_008916.1:g.31866G= , LRG_288:g.31866G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1303G=
ENST00000683359.1:n.129G=
ENST00000684241.1:n.2838G=
ENST00000262186.10:c.2005G= MANE Select ENSP00000262186.5:p.Gly669=
ENST00000330883.9:c.985G= ENSP00000328531.4:p.Gly329=
ENST00000262186.9:c.2005G= ENSP00000262186.5:p.Gly669=
ENST00000330883.8:c.985G= ENSP00000328531.4:p.Gly329=
ENST00000430723.4:c.1657G= ENSP00000387657.4:p.Gly553=
ENST00000461280.1:n.1292G=
ENST00000473610.5:n.1637G=
ENST00000532957.5:n.2228G=
NM_000238.3:c.2005G= , LRG_288t1:c.2005G= NP_000229.1:p.Gly669=
NM_001204798.1:c.985G= NP_001191727.1:p.Gly329=
NM_172056.2:c.2005G= , LRG_288t2:c.2005G= NP_742053.1:p.Gly669=
NM_172057.2:c.985G= , LRG_288t3:c.985G= NP_742054.1:p.Gly329=
XM_011516185.1:c.1705G= XP_011514487.1:p.Gly569=
XM_011516186.1:c.2005G= XP_011514488.1:p.Gly669=
XM_011516185.2:c.1705G= XP_011514487.1:p.Gly569=
XM_011516186.3:c.2005G= XP_011514488.1:p.Gly669=
XM_017012195.1:c.1855G= XP_016867684.1:p.Gly619=
XM_017012196.1:c.1828G= XP_016867685.1:p.Gly610=
NM_000238.4:c.2005G= MANE Select NP_000229.1:p.Gly669=
NM_001204798.2:c.985G= NP_001191727.1:p.Gly329=
NM_172057.3:c.985G= NP_742054.1:p.Gly329=