Canonical Allele Identifier: CA2612151315
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5253199-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253199T>C , CM000673.2:g.5253199T>C GRCh38
NC_000011.9:g.5274429T>C , CM000673.1:g.5274429T>C GRCh37
NC_000011.8:g.5231005T>C NCBI36
NG_000007.3:g.44417A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.*78A>G MANE Select ENSP00000338082.4:n.*78A>G
ENST00000380252.6:c.*78A>G ENSP00000369602.2:n.*78A>G
ENST00000642908.1:c.315+1093A>G ENSP00000495346.1:n.315+1093A>G
ENST00000647543.1:c.378+144A>G ENSP00000496470.1:n.378+144A>G
ENST00000380252.5:c.*78A>G ENSP00000369602.1:n.*78A>G
ENST00000380259.6:c.*78A>G ENSP00000369609.2:n.*78A>G
ENST00000620888.4:c.315+1093A>G ENSP00000479637.1:n.315+1093A>G
NM_000184.2:c.*78A>G NP_000175.1:n.*78A>G
NM_000184.3:c.*78A>G MANE Select NP_000175.1:n.*78A>G
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