Canonical Allele Identifier: CA1949575326
Community Standard Title: NM_000184.3(HBG2):c.439C= (p.His147=)
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253282G= , CM000673.2:g.5253282G= GRCh38
NC_000011.9:g.5274512G= , CM000673.1:g.5274512G= GRCh37
NC_000011.8:g.5231088G= NCBI36
NG_000007.3:g.44334C=

Transcript Alleles

HGVS Amino-acid Change
NM_000184.3:c.439C= MANE Select NP_000175.1:p.His147=
ENST00000336906.6:c.439C= MANE Select ENSP00000338082.4:p.His147=
NM_000184.2:c.439C= NP_000175.1:p.His147=
ENST00000336906.4:c.439C= ENSP00000338082.4:p.His147=
ENST00000380252.5:c.409C= ENSP00000369602.1:p.His137=
ENST00000380252.6:c.274C= ENSP00000369602.2:p.His92=
ENST00000380259.6:c.439C= ENSP00000369609.2:p.His147=
ENST00000620888.4:c.315+1010C= ENSP00000479637.1:n.315+1010C=
ENST00000642908.1:c.315+1010C= ENSP00000495346.1:n.315+1010C=
ENST00000647543.1:c.378+61C= ENSP00000496470.1:n.378+61C=