Canonical Allele Identifier: CA1752419933
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959628C= , CM000669.2:g.150959628C= GRCh38
NC_000007.13:g.150656716C= , CM000669.1:g.150656716C= GRCh37
NC_000007.12:g.150287649C= NCBI36
NG_008916.1:g.23299G= , LRG_288:g.23299G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1249G=
ENST00000262186.10:c.416G= MANE Select ENSP00000262186.5:p.Gly139=
ENST00000262186.9:c.416G= ENSP00000262186.5:p.Gly139=
ENST00000430723.4:c.234+5G= ENSP00000387657.4:n.234+5G=
ENST00000532957.5:n.639G=
NM_000238.3:c.416G= , LRG_288t1:c.416G= NP_000229.1:p.Gly139=
NM_172056.2:c.416G= , LRG_288t2:c.416G= NP_742053.1:p.Gly139=
XM_011516185.1:c.116G= XP_011514487.1:p.Gly39=
XM_011516186.1:c.416G= XP_011514488.1:p.Gly139=
XM_011516185.2:c.116G= XP_011514487.1:p.Gly39=
XM_011516186.3:c.416G= XP_011514488.1:p.Gly139=
XM_017012195.1:c.266G= XP_016867684.1:p.Gly89=
XM_017012196.1:c.239G= XP_016867685.1:p.Gly80=
NM_000238.4:c.416G= MANE Select NP_000229.1:p.Gly139=