Canonical Allele Identifier: CA379263495

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5274527G>C (hg19) ; chr11:g.5253297G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253297G>C , CM000673.2:g.5253297G>C	GRCh38
NC_000011.9:g.5274527G>C , CM000673.1:g.5274527G>C	GRCh37
NC_000011.8:g.5231103G>C	NCBI36
NG_000007.3:g.44319C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.424C>G MANE Select	ENSP00000338082.4:p.Leu142Val
ENST00000380252.6:c.259C>G	ENSP00000369602.2:p.Leu87Val
ENST00000642908.1:c.315+995C>G	ENSP00000495346.1:n.315+995C>G
ENST00000647543.1:c.378+46C>G	ENSP00000496470.1:n.378+46C>G
ENST00000336906.4:c.424C>G	ENSP00000338082.4:p.Leu142Val
ENST00000380252.5:c.394C>G	ENSP00000369602.1:p.Leu132Val
ENST00000380259.6:c.424C>G	ENSP00000369609.2:p.Leu142Val
ENST00000620888.4:c.315+995C>G	ENSP00000479637.1:n.315+995C>G
NM_000184.2:c.424C>G	NP_000175.1:p.Leu142Val
NM_000184.3:c.424C>G MANE Select	NP_000175.1:p.Leu142Val