Canonical Allele Identifier: CA2612151308
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5253191-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253191G>T , CM000673.2:g.5253191G>T GRCh38
NC_000011.9:g.5274421G>T , CM000673.1:g.5274421G>T GRCh37
NC_000011.8:g.5230997G>T NCBI36
NG_000007.3:g.44425C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.*86C>A MANE Select ENSP00000338082.4:n.*86C>A
ENST00000380252.6:c.*86C>A ENSP00000369602.2:n.*86C>A
ENST00000642908.1:c.315+1101C>A ENSP00000495346.1:n.315+1101C>A
ENST00000647543.1:c.378+152C>A ENSP00000496470.1:n.378+152C>A
ENST00000380252.5:c.*86C>A ENSP00000369602.1:n.*86C>A
ENST00000380259.6:c.*86C>A ENSP00000369609.2:n.*86C>A
ENST00000620888.4:c.315+1101C>A ENSP00000479637.1:n.315+1101C>A
NM_000184.2:c.*86C>A NP_000175.1:n.*86C>A
NM_000184.3:c.*86C>A MANE Select NP_000175.1:n.*86C>A
Search 100 bp 5'
Search 100 bp 3'