Canonical Allele Identifier: CA973581889
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v3: 16-173056-C-A
gnomAD v4: 16-173056-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173056C>A , CM000678.2:g.173056C>A GRCh38
NC_000016.9:g.223055C>A , CM000678.1:g.223055C>A GRCh37
NC_000016.8:g.163055C>A NCBI36
NG_000006.1:g.33919C>A
NG_059186.1:g.1406C>A
NG_059271.1:g.5210C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.95+49C>A MANE Select ENSP00000251595.6:n.95+49C>A
ENST00000251595.10:c.95+49C>A ENSP00000251595.6:n.95+49C>A
ENST00000397806.1:c.-1-69C>A ENSP00000380908.1:n.-1-69C>A
ENST00000482565.1:n.163C>A
ENST00000484216.1:n.64+49C>A
NM_000517.4:c.95+49C>A NP_000508.1:n.95+49C>A
NM_000517.6:c.95+49C>A MANE Select NP_000508.1:n.95+49C>A
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