Canonical Allele Identifier: CA1949575528
Community Standard Title: NM_000184.3(HBG2):c.355T= (p.Phe119=)
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253366A= , CM000673.2:g.5253366A= GRCh38
NC_000011.9:g.5274596A= , CM000673.1:g.5274596A= GRCh37
NC_000011.8:g.5231172A= NCBI36
NG_000007.3:g.44250T=

Transcript Alleles

HGVS Amino-acid Change
NM_000184.3:c.355T= MANE Select NP_000175.1:p.Phe119=
ENST00000336906.6:c.355T= MANE Select ENSP00000338082.4:p.Phe119=
NM_000184.2:c.355T= NP_000175.1:p.Phe119=
ENST00000336906.4:c.355T= ENSP00000338082.4:p.Phe119=
ENST00000380252.5:c.325T= ENSP00000369602.1:p.Phe109=
ENST00000380252.6:c.190T= ENSP00000369602.2:p.Phe64=
ENST00000380259.6:c.355T= ENSP00000369609.2:p.Phe119=
ENST00000620888.4:c.315+926T= ENSP00000479637.1:n.315+926T=
ENST00000642908.1:c.315+926T= ENSP00000495346.1:n.315+926T=
ENST00000647543.1:c.355T= ENSP00000496470.1:p.Phe119=