Canonical Allele Identifier: CA1752431236
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948444C= , CM000669.2:g.150948444C= GRCh38
NC_000007.13:g.150645532C= , CM000669.1:g.150645532C= GRCh37
NC_000007.12:g.150276465C= NCBI36
NG_008916.1:g.34483G= , LRG_288:g.34483G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3525G=
ENST00000262186.10:c.2692G= MANE Select ENSP00000262186.5:p.Asp898=
ENST00000330883.9:c.1672G= ENSP00000328531.4:p.Asp558=
ENST00000262186.9:c.2692G= ENSP00000262186.5:p.Asp898=
ENST00000330883.8:c.1672G= ENSP00000328531.4:p.Asp558=
NM_000238.3:c.2692G= , LRG_288t1:c.2692G= NP_000229.1:p.Asp898=
NM_172057.2:c.1672G= , LRG_288t3:c.1672G= NP_742054.1:p.Asp558=
XM_011516185.1:c.2392G= XP_011514487.1:p.Asp798=
XM_011516186.1:c.2692G= XP_011514488.1:p.Ala898=
XM_011516185.2:c.2392G= XP_011514487.1:p.Asp798=
XM_011516186.3:c.2692G= XP_011514488.1:p.Ala898=
XM_017012195.1:c.2542G= XP_016867684.1:p.Asp848=
XM_017012196.1:c.2515G= XP_016867685.1:p.Asp839=
NM_000238.4:c.2692G= MANE Select NP_000229.1:p.Asp898=
NM_172057.3:c.1672G= NP_742054.1:p.Asp558=