Canonical Allele Identifier: CA379263509

Gene: HBG2

Linked Data

• dbSNP Id: rs1847972258
• gnomAD v4: 11-5253303-T-C
• MyVariant Identifiers: chr11:g.5274533T>C (hg19) ; chr11:g.5253303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253303T>C , CM000673.2:g.5253303T>C	GRCh38
NC_000011.9:g.5274533T>C , CM000673.1:g.5274533T>C	GRCh37
NC_000011.8:g.5231109T>C	NCBI36
NG_000007.3:g.44313A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.418A>G MANE Select	ENSP00000338082.4:p.Ser140Gly
ENST00000380252.6:c.253A>G	ENSP00000369602.2:p.Ser85Gly
ENST00000642908.1:c.315+989A>G	ENSP00000495346.1:n.315+989A>G
ENST00000647543.1:c.378+40A>G	ENSP00000496470.1:n.378+40A>G
ENST00000336906.4:c.418A>G	ENSP00000338082.4:p.Ser140Gly
ENST00000380252.5:c.388A>G	ENSP00000369602.1:p.Ser130Gly
ENST00000380259.6:c.418A>G	ENSP00000369609.2:p.Ser140Gly
ENST00000620888.4:c.315+989A>G	ENSP00000479637.1:n.315+989A>G
NM_000184.2:c.418A>G	NP_000175.1:p.Ser140Gly
NM_000184.3:c.418A>G MANE Select	NP_000175.1:p.Ser140Gly