Canonical Allele Identifier: CA1949577351
Community Standard Title: NM_000184.3(HBG2):c.233A= (p.His78=)
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254374T= , CM000673.2:g.5254374T= GRCh38
NC_000011.9:g.5275604T= , CM000673.1:g.5275604T= GRCh37
NC_000011.8:g.5232180T= NCBI36
NG_000007.3:g.43242A=

Transcript Alleles

HGVS Amino-acid Change
NM_000184.3:c.233A= MANE Select NP_000175.1:p.His78=
ENST00000336906.6:c.233A= MANE Select ENSP00000338082.4:p.His78=
NM_000184.2:c.233A= NP_000175.1:p.His78=
ENST00000336906.4:c.233A= ENSP00000338082.4:p.His78=
ENST00000380252.5:c.203A= ENSP00000369602.1:p.His68=
ENST00000380252.6:c.68A= ENSP00000369602.2:p.His23=
ENST00000380259.6:c.233A= ENSP00000369609.2:p.His78=
ENST00000444587.1:c.*102A= ENSP00000488218.1:n.*102A=
ENST00000620888.4:c.233A= ENSP00000479637.1:p.His78=
ENST00000624109.1:c.122T= ENSP00000485458.1:p.Val41=
ENST00000642908.1:c.233A= ENSP00000495346.1:p.His78=
ENST00000647543.1:c.233A= ENSP00000496470.1:p.His78=