Canonical Allele Identifier: CA2612151341
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5253208-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253208T>G , CM000673.2:g.5253208T>G GRCh38
NC_000011.9:g.5274438T>G , CM000673.1:g.5274438T>G GRCh37
NC_000011.8:g.5231014T>G NCBI36
NG_000007.3:g.44408A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.*69A>C MANE Select ENSP00000338082.4:n.*69A>C
ENST00000380252.6:c.*69A>C ENSP00000369602.2:n.*69A>C
ENST00000642908.1:c.315+1084A>C ENSP00000495346.1:n.315+1084A>C
ENST00000647543.1:c.378+135A>C ENSP00000496470.1:n.378+135A>C
ENST00000336906.4:c.*69A>C ENSP00000338082.4:n.*69A>C
ENST00000380252.5:c.*69A>C ENSP00000369602.1:n.*69A>C
ENST00000380259.6:c.*69A>C ENSP00000369609.2:n.*69A>C
ENST00000620888.4:c.315+1084A>C ENSP00000479637.1:n.315+1084A>C
NM_000184.2:c.*69A>C NP_000175.1:n.*69A>C
NM_000184.3:c.*69A>C MANE Select NP_000175.1:n.*69A>C
Search 100 bp 5'
Search 100 bp 3'