Canonical Allele Identifier: CA379263459

Gene: HBG2

Linked Data

• gnomAD v4: 11-5253280-G-C
• MyVariant Identifiers: chr11:g.5274510G>C (hg19) ; chr11:g.5253280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253280G>C , CM000673.2:g.5253280G>C	GRCh38
NC_000011.9:g.5274510G>C , CM000673.1:g.5274510G>C	GRCh37
NC_000011.8:g.5231086G>C	NCBI36
NG_000007.3:g.44336C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.441C>G MANE Select	ENSP00000338082.4:p.His147Gln
ENST00000380252.6:c.276C>G	ENSP00000369602.2:p.His92Gln
ENST00000642908.1:c.315+1012C>G	ENSP00000495346.1:n.315+1012C>G
ENST00000647543.1:c.378+63C>G	ENSP00000496470.1:n.378+63C>G
ENST00000336906.4:c.441C>G	ENSP00000338082.4:p.His147Gln
ENST00000380252.5:c.411C>G	ENSP00000369602.1:p.His137Gln
ENST00000380259.6:c.441C>G	ENSP00000369609.2:p.His147Gln
ENST00000620888.4:c.315+1012C>G	ENSP00000479637.1:n.315+1012C>G
NM_000184.2:c.441C>G	NP_000175.1:p.His147Gln
NM_000184.3:c.441C>G MANE Select	NP_000175.1:p.His147Gln