Canonical Allele Identifier: CA1752462010
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974764G= , CM000669.2:g.150974764G= GRCh38
NC_000007.13:g.150671852G= , CM000669.1:g.150671852G= GRCh37
NC_000007.12:g.150302785G= NCBI36
NG_008916.1:g.8163C= , LRG_288:g.8163C=

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.254C= MANE Select ENSP00000262186.5:p.Ala85=
ENST00000262186.9:c.254C= ENSP00000262186.5:p.Ala85=
ENST00000430723.4:c.77C= ENSP00000387657.4:p.Ala26=
ENST00000532957.5:n.477C=
NM_000238.3:c.254C= , LRG_288t1:c.254C= NP_000229.1:p.Ala85=
NM_172056.2:c.254C= , LRG_288t2:c.254C= NP_742053.1:p.Ala85=
XM_011516186.1:c.254C= XP_011514488.1:p.Ala85=
XM_011516186.3:c.254C= XP_011514488.1:p.Ala85=
XM_017012196.1:c.77C= XP_016867685.1:p.Ala26=
NM_000238.4:c.254C= MANE Select NP_000229.1:p.Ala85=