Canonical Allele Identifier: CA1752441103
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974867G= , CM000669.2:g.150974867G= GRCh38
NC_000007.13:g.150671955G= , CM000669.1:g.150671955G= GRCh37
NC_000007.12:g.150302888G= NCBI36
NG_008916.1:g.8060C= , LRG_288:g.8060C=

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.151C= MANE Select ENSP00000262186.5:p.Leu51=
ENST00000262186.9:c.151C= ENSP00000262186.5:p.Leu51=
ENST00000430723.4:c.-27C= ENSP00000387657.4:n.-27C=
ENST00000532957.5:n.374C=
NM_000238.3:c.151C= , LRG_288t1:c.151C= NP_000229.1:p.Leu51=
NM_172056.2:c.151C= , LRG_288t2:c.151C= NP_742053.1:p.Leu51=
XM_011516186.1:c.151C= XP_011514488.1:p.Leu51=
XM_011516186.3:c.151C= XP_011514488.1:p.Leu51=
XM_017012196.1:c.-27C= XP_016867685.1:n.-27C=
NM_000238.4:c.151C= MANE Select NP_000229.1:p.Leu51=