Canonical Allele Identifier: CA124520

Gene: HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253368T>C , CM000673.2:g.5253368T>C	GRCh38
NC_000011.9:g.5274598T>C , CM000673.1:g.5274598T>C	GRCh37
NC_000011.8:g.5231174T>C	NCBI36
NG_000007.3:g.44248A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000184.3:c.353A>G MANE Select	NP_000175.1:p.His118Arg
ENST00000336906.6:c.353A>G MANE Select	ENSP00000338082.4:p.His118Arg
NM_000184.2:c.353A>G	NP_000175.1:p.His118Arg
ENST00000336906.4:c.353A>G	ENSP00000338082.4:p.His118Arg
ENST00000380252.5:c.323A>G	ENSP00000369602.1:p.His108Arg
ENST00000380252.6:c.188A>G	ENSP00000369602.2:p.His63Arg
ENST00000380259.6:c.353A>G	ENSP00000369609.2:p.His118Arg
ENST00000620888.4:c.315+924A>G	ENSP00000479637.1:n.315+924A>G
ENST00000624109.1:c.2T>C	ENSP00000485458.1:p.Met1Thr
ENST00000642908.1:c.315+924A>G	ENSP00000495346.1:n.315+924A>G
ENST00000647543.1:c.353A>G	ENSP00000496470.1:p.His118Arg