Canonical Allele Identifier: CA2630737761
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173365-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173365G>A , CM000678.2:g.173365G>A GRCh38
NC_000016.9:g.223364G>A , CM000678.1:g.223364G>A GRCh37
NC_000016.8:g.163364G>A NCBI36
NG_000006.1:g.34228G>A
NG_059186.1:g.1715G>A
NG_059271.1:g.5519G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.300+36G>A MANE Select ENSP00000251595.6:n.300+36G>A
ENST00000251595.10:c.300+36G>A ENSP00000251595.6:n.300+36G>A
ENST00000397806.1:c.204+36G>A ENSP00000380908.1:n.204+36G>A
ENST00000482565.1:n.436+36G>A
ENST00000484216.1:n.305G>A
NM_000517.4:c.300+36G>A NP_000508.1:n.300+36G>A
NM_000517.6:c.300+36G>A MANE Select NP_000508.1:n.300+36G>A
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