Canonical Allele Identifier: CA1752462128
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974778C= , CM000669.2:g.150974778C= GRCh38
NC_000007.13:g.150671866C= , CM000669.1:g.150671866C= GRCh37
NC_000007.12:g.150302799C= NCBI36
NG_008916.1:g.8149G= , LRG_288:g.8149G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.240G= MANE Select ENSP00000262186.5:p.Ala80=
ENST00000262186.9:c.240G= ENSP00000262186.5:p.Ala80=
ENST00000430723.4:c.63G= ENSP00000387657.4:p.Ala21=
ENST00000532957.5:n.463G=
NM_000238.3:c.240G= , LRG_288t1:c.240G= NP_000229.1:p.Ala80=
NM_172056.2:c.240G= , LRG_288t2:c.240G= NP_742053.1:p.Ala80=
XM_011516186.1:c.240G= XP_011514488.1:p.Ala80=
XM_011516186.3:c.240G= XP_011514488.1:p.Ala80=
XM_017012196.1:c.63G= XP_016867685.1:p.Ala21=
NM_000238.4:c.240G= MANE Select NP_000229.1:p.Ala80=