Canonical Allele Identifier: CA1752431328
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948460G= , CM000669.2:g.150948460G= GRCh38
NC_000007.13:g.150645548G= , CM000669.1:g.150645548G= GRCh37
NC_000007.12:g.150276481G= NCBI36
NG_008916.1:g.34467C= , LRG_288:g.34467C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3509C=
ENST00000262186.10:c.2676C= MANE Select ENSP00000262186.5:p.Arg892=
ENST00000330883.9:c.1656C= ENSP00000328531.4:p.Arg552=
ENST00000262186.9:c.2676C= ENSP00000262186.5:p.Arg892=
ENST00000330883.8:c.1656C= ENSP00000328531.4:p.Arg552=
NM_000238.3:c.2676C= , LRG_288t1:c.2676C= NP_000229.1:p.Arg892=
NM_172057.2:c.1656C= , LRG_288t3:c.1656C= NP_742054.1:p.Arg552=
XM_011516185.1:c.2376C= XP_011514487.1:p.Arg792=
XM_011516186.1:c.2676C= XP_011514488.1:p.Arg892=
XM_011516185.2:c.2376C= XP_011514487.1:p.Arg792=
XM_011516186.3:c.2676C= XP_011514488.1:p.Arg892=
XM_017012195.1:c.2526C= XP_016867684.1:p.Arg842=
XM_017012196.1:c.2499C= XP_016867685.1:p.Arg833=
NM_000238.4:c.2676C= MANE Select NP_000229.1:p.Arg892=
NM_172057.3:c.1656C= NP_742054.1:p.Arg552=