Canonical Allele Identifier: CA379264568

Gene: HBG2

Linked Data

• ClinVar Variation Id: 2428585
• ClinVar RCV Id: RCV003120186
• MyVariant Identifiers: chr11:g.5275702G>C (hg19) ; chr11:g.5254472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254472G>C , CM000673.2:g.5254472G>C	GRCh38
NC_000011.9:g.5275702G>C , CM000673.1:g.5275702G>C	GRCh37
NC_000011.8:g.5232278G>C	NCBI36
NG_000007.3:g.43144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.135C>G MANE Select	ENSP00000338082.4:p.Ser45Arg
ENST00000380252.6:c.-31C>G	ENSP00000369602.2:n.-31C>G
ENST00000380259.7:c.1681C>G	ENSP00000369609.3:n.1681C>G
ENST00000642908.1:c.135C>G	ENSP00000495346.1:p.Ser45Arg
ENST00000647543.1:c.135C>G	ENSP00000496470.1:p.Ser45Arg
ENST00000336906.4:c.135C>G	ENSP00000338082.4:p.Ser45Arg
ENST00000380252.5:c.105C>G	ENSP00000369602.1:p.Ser35Arg
ENST00000380259.6:c.135C>G	ENSP00000369609.2:p.Ser45Arg
ENST00000444587.1:c.*4C>G	ENSP00000488218.1:n.*4C>G
ENST00000620888.4:c.135C>G	ENSP00000479637.1:p.Ser45Arg
ENST00000624109.1:c.220G>C	ENSP00000485458.1:p.Ala74Pro
NM_000184.2:c.135C>G	NP_000175.1:p.Ser45Arg
NM_000184.3:c.135C>G MANE Select	NP_000175.1:p.Ser45Arg