Canonical Allele Identifier: CA1949575395
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253318C= , CM000673.2:g.5253318C= GRCh38
NC_000011.9:g.5274548C= , CM000673.1:g.5274548C= GRCh37
NC_000011.8:g.5231124C= NCBI36
NG_000007.3:g.44298G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.403G= MANE Select ENSP00000338082.4:p.Val135=
ENST00000380252.6:c.238G= ENSP00000369602.2:p.Val80=
ENST00000642908.1:c.315+974G= ENSP00000495346.1:n.315+974G=
ENST00000647543.1:c.378+25G= ENSP00000496470.1:n.378+25G=
ENST00000336906.4:c.403G= ENSP00000338082.4:p.Val135=
ENST00000380252.5:c.373G= ENSP00000369602.1:p.Val125=
ENST00000380259.6:c.403G= ENSP00000369609.2:p.Val135=
ENST00000620888.4:c.315+974G= ENSP00000479637.1:n.315+974G=
NM_000184.2:c.403G= NP_000175.1:p.Val135=
NM_000184.3:c.403G= MANE Select NP_000175.1:p.Val135=