Canonical Allele Identifier: CA2612151303
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5253189-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253189G>T , CM000673.2:g.5253189G>T GRCh38
NC_000011.9:g.5274419G>T , CM000673.1:g.5274419G>T GRCh37
NC_000011.8:g.5230995G>T NCBI36
NG_000007.3:g.44427C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.*88C>A MANE Select ENSP00000338082.4:n.*88C>A
ENST00000642908.1:c.315+1103C>A ENSP00000495346.1:n.315+1103C>A
ENST00000647543.1:c.378+154C>A ENSP00000496470.1:n.378+154C>A
ENST00000620888.4:c.315+1103C>A ENSP00000479637.1:n.315+1103C>A
NM_000184.3:c.*88C>A MANE Select NP_000175.1:n.*88C>A
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