Canonical Allele Identifier: CA2739361755

Gene: HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253258T>A , CM000673.2:g.5253258T>A	GRCh38
NC_000011.9:g.5274488T>A , CM000673.1:g.5274488T>A	GRCh37
NC_000011.8:g.5231064T>A	NCBI36
NG_000007.3:g.44358A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.*19A>T MANE Select	ENSP00000338082.4:n.*19A>T
ENST00000380252.6:c.*19A>T	ENSP00000369602.2:n.*19A>T
ENST00000642908.1:c.315+1034A>T	ENSP00000495346.1:n.315+1034A>T
ENST00000647543.1:c.378+85A>T	ENSP00000496470.1:n.378+85A>T
ENST00000336906.4:c.*19A>T	ENSP00000338082.4:n.*19A>T
ENST00000380252.5:c.*19A>T	ENSP00000369602.1:n.*19A>T
ENST00000380259.6:c.*19A>T	ENSP00000369609.2:n.*19A>T
ENST00000620888.4:c.315+1034A>T	ENSP00000479637.1:n.315+1034A>T
NM_000184.2:c.*19A>T	NP_000175.1:n.*19A>T
NM_000184.3:c.*19A>T MANE Select	NP_000175.1:n.*19A>T