Canonical Allele Identifier: CA1949577493
Community Standard Title: NM_000184.3(HBG2):c.167T= (p.Met56=)
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254440A= , CM000673.2:g.5254440A= GRCh38
NC_000011.9:g.5275670A= , CM000673.1:g.5275670A= GRCh37
NC_000011.8:g.5232246A= NCBI36
NG_000007.3:g.43176T=

Transcript Alleles

HGVS Amino-acid Change
NM_000184.3:c.167T= MANE Select NP_000175.1:p.Met56=
ENST00000336906.6:c.167T= MANE Select ENSP00000338082.4:p.Met56=
NM_000184.2:c.167T= NP_000175.1:p.Met56=
ENST00000336906.4:c.167T= ENSP00000338082.4:p.Met56=
ENST00000380252.5:c.137T= ENSP00000369602.1:p.Met46=
ENST00000380252.6:c.2T= ENSP00000369602.2:p.Met1=
ENST00000380259.6:c.167T= ENSP00000369609.2:p.Met56=
ENST00000380259.7:c.1713T= ENSP00000369609.3:n.1713T=
ENST00000444587.1:c.*36T= ENSP00000488218.1:n.*36T=
ENST00000620888.4:c.167T= ENSP00000479637.1:p.Met56=
ENST00000624109.1:c.188A= ENSP00000485458.1:p.His63=
ENST00000642908.1:c.167T= ENSP00000495346.1:p.Met56=
ENST00000647543.1:c.167T= ENSP00000496470.1:p.Met56=