Canonical Allele Identifier: CA379264997
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5254649-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254649T>C , CM000673.2:g.5254649T>C GRCh38
NC_000011.9:g.5275879T>C , CM000673.1:g.5275879T>C GRCh37
NC_000011.8:g.5232455T>C NCBI36
NG_000007.3:g.42967A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.80A>G MANE Select ENSP00000338082.4:p.Glu27Gly
ENST00000380252.6:c.-73-135A>G ENSP00000369602.2:n.-73-135A>G
ENST00000380259.7:c.1626A>G ENSP00000369609.3:n.1626A>G
ENST00000642908.1:c.80A>G ENSP00000495346.1:p.Glu27Gly
ENST00000647543.1:c.80A>G ENSP00000496470.1:p.Glu27Gly
ENST00000336906.4:c.80A>G ENSP00000338082.4:p.Glu27Gly
ENST00000380252.5:c.63-135A>G ENSP00000369602.1:n.63-135A>G
ENST00000380259.6:c.80A>G ENSP00000369609.2:p.Glu27Gly
ENST00000444587.1:c.54+26A>G ENSP00000488218.1:n.54+26A>G
ENST00000620888.4:c.80A>G ENSP00000479637.1:p.Glu27Gly
ENST00000624109.1:c.278T>C ENSP00000485458.1:p.Phe93Ser
NM_000184.2:c.80A>G NP_000175.1:p.Glu27Gly
NM_000184.3:c.80A>G MANE Select NP_000175.1:p.Glu27Gly