Canonical Allele Identifier: CA1949575338
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253290G= , CM000673.2:g.5253290G= GRCh38
NC_000011.9:g.5274520G= , CM000673.1:g.5274520G= GRCh37
NC_000011.8:g.5231096G= NCBI36
NG_000007.3:g.44326C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.431C= MANE Select ENSP00000338082.4:p.Ser144=
ENST00000380252.6:c.266C= ENSP00000369602.2:p.Ser89=
ENST00000642908.1:c.315+1002C= ENSP00000495346.1:n.315+1002C=
ENST00000647543.1:c.378+53C= ENSP00000496470.1:n.378+53C=
ENST00000336906.4:c.431C= ENSP00000338082.4:p.Ser144=
ENST00000380252.5:c.401C= ENSP00000369602.1:p.Ser134=
ENST00000380259.6:c.431C= ENSP00000369609.2:p.Ser144=
ENST00000620888.4:c.315+1002C= ENSP00000479637.1:n.315+1002C=
NM_000184.2:c.431C= NP_000175.1:p.Ser144=
NM_000184.3:c.431C= MANE Select NP_000175.1:p.Ser144=