Canonical Allele Identifier: CA124524

Gene: HBG2

Linked Data

• ClinVar Variation Id: 14972
• ClinVar RCV Id: RCV000016112
• dbSNP Id: rs34263826
• MyVariant Identifiers: chr11:g.5275942T>C (hg19) ; chr11:g.5254712T>C (hg38)
• PubMed: PMID:6172403

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254712T>C , CM000673.2:g.5254712T>C	GRCh38
NC_000011.9:g.5275942T>C , CM000673.1:g.5275942T>C	GRCh37
NC_000011.8:g.5232518T>C	NCBI36
NG_000007.3:g.42904A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.17A>G MANE Select	ENSP00000338082.4:p.Glu6Gly
ENST00000380252.6:c.-73-198A>G	ENSP00000369602.2:n.-73-198A>G
ENST00000380259.7:c.1563A>G	ENSP00000369609.3:n.1563A>G
ENST00000642908.1:c.17A>G	ENSP00000495346.1:p.Glu6Gly
ENST00000647543.1:c.17A>G	ENSP00000496470.1:p.Glu6Gly
ENST00000336906.4:c.17A>G	ENSP00000338082.4:p.Glu6Gly
ENST00000380252.5:c.63-198A>G	ENSP00000369602.1:n.63-198A>G
ENST00000380259.6:c.17A>G	ENSP00000369609.2:p.Glu6Gly
ENST00000444587.1:c.17A>G	ENSP00000488218.1:p.Glu6Gly
ENST00000620888.4:c.17A>G	ENSP00000479637.1:p.Glu6Gly
ENST00000624109.1:c.341T>C	ENSP00000485458.1:p.Leu114Pro
NM_000184.2:c.17A>G	NP_000175.1:p.Glu6Gly
NM_000184.3:c.17A>G MANE Select	NP_000175.1:p.Glu6Gly