Canonical Allele Identifier: CA1752461904
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974742G= , CM000669.2:g.150974742G= GRCh38
NC_000007.13:g.150671830G= , CM000669.1:g.150671830G= GRCh37
NC_000007.12:g.150302763G= NCBI36
NG_008916.1:g.8185C= , LRG_288:g.8185C=

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.276C= MANE Select ENSP00000262186.5:p.Arg92=
ENST00000262186.9:c.276C= ENSP00000262186.5:p.Arg92=
ENST00000430723.4:c.99C= ENSP00000387657.4:p.Arg33=
ENST00000532957.5:n.499C=
NM_000238.3:c.276C= , LRG_288t1:c.276C= NP_000229.1:p.Arg92=
NM_172056.2:c.276C= , LRG_288t2:c.276C= NP_742053.1:p.Arg92=
XM_011516186.1:c.276C= XP_011514488.1:p.Arg92=
XM_011516186.3:c.276C= XP_011514488.1:p.Arg92=
XM_017012196.1:c.99C= XP_016867685.1:p.Arg33=
NM_000238.4:c.276C= MANE Select NP_000229.1:p.Arg92=