Canonical Allele Identifier: CA2612152546
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5254622-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254622G>C , CM000673.2:g.5254622G>C GRCh38
NC_000011.9:g.5275852G>C , CM000673.1:g.5275852G>C GRCh37
NC_000011.8:g.5232428G>C NCBI36
NG_000007.3:g.42994C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.92+15C>G MANE Select ENSP00000338082.4:n.92+15C>G
ENST00000380252.6:c.-73-108C>G ENSP00000369602.2:n.-73-108C>G
ENST00000380259.7:c.1638+15C>G ENSP00000369609.3:n.1638+15C>G
ENST00000642908.1:c.92+15C>G ENSP00000495346.1:n.92+15C>G
ENST00000647543.1:c.92+15C>G ENSP00000496470.1:n.92+15C>G
ENST00000336906.4:c.92+15C>G ENSP00000338082.4:n.92+15C>G
ENST00000380252.5:c.63-108C>G ENSP00000369602.1:n.63-108C>G
ENST00000380259.6:c.92+15C>G ENSP00000369609.2:n.92+15C>G
ENST00000444587.1:c.54+53C>G ENSP00000488218.1:n.54+53C>G
ENST00000620888.4:c.92+15C>G ENSP00000479637.1:n.92+15C>G
ENST00000624109.1:c.265-14G>C ENSP00000485458.1:n.265-14G>C
NM_000184.2:c.92+15C>G NP_000175.1:n.92+15C>G
NM_000184.3:c.92+15C>G MANE Select NP_000175.1:n.92+15C>G