Canonical Allele Identifier: CA2612152505
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5254574-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254574C>G , CM000673.2:g.5254574C>G GRCh38
NC_000011.9:g.5275804C>G , CM000673.1:g.5275804C>G GRCh37
NC_000011.8:g.5232380C>G NCBI36
NG_000007.3:g.43042G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.93-60G>C MANE Select ENSP00000338082.4:n.93-60G>C
ENST00000380252.6:c.-73-60G>C ENSP00000369602.2:n.-73-60G>C
ENST00000380259.7:c.1639-60G>C ENSP00000369609.3:n.1639-60G>C
ENST00000642908.1:c.93-60G>C ENSP00000495346.1:n.93-60G>C
ENST00000647543.1:c.93-60G>C ENSP00000496470.1:n.93-60G>C
ENST00000336906.4:c.93-60G>C ENSP00000338082.4:n.93-60G>C
ENST00000380252.5:c.63-60G>C ENSP00000369602.1:n.63-60G>C
ENST00000380259.6:c.93-60G>C ENSP00000369609.2:n.93-60G>C
ENST00000444587.1:c.55-60G>C ENSP00000488218.1:n.55-60G>C
ENST00000620888.4:c.93-60G>C ENSP00000479637.1:n.93-60G>C
ENST00000624109.1:c.264+58C>G ENSP00000485458.1:n.264+58C>G
NM_000184.2:c.93-60G>C NP_000175.1:n.93-60G>C
NM_000184.3:c.93-60G>C MANE Select NP_000175.1:n.93-60G>C