Canonical Allele Identifier: CA1752462023
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974765C= , CM000669.2:g.150974765C= GRCh38
NC_000007.13:g.150671853C= , CM000669.1:g.150671853C= GRCh37
NC_000007.12:g.150302786C= NCBI36
NG_008916.1:g.8162G= , LRG_288:g.8162G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.253G= MANE Select ENSP00000262186.5:p.Ala85=
ENST00000262186.9:c.253G= ENSP00000262186.5:p.Ala85=
ENST00000430723.4:c.76G= ENSP00000387657.4:p.Ala26=
ENST00000532957.5:n.476G=
NM_000238.3:c.253G= , LRG_288t1:c.253G= NP_000229.1:p.Ala85=
NM_172056.2:c.253G= , LRG_288t2:c.253G= NP_742053.1:p.Ala85=
XM_011516186.1:c.253G= XP_011514488.1:p.Ala85=
XM_011516186.3:c.253G= XP_011514488.1:p.Ala85=
XM_017012196.1:c.76G= XP_016867685.1:p.Ala26=
NM_000238.4:c.253G= MANE Select NP_000229.1:p.Ala85=