Canonical Allele Identifier: CA2630737801
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173416-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173416T>C , CM000678.2:g.173416T>C GRCh38
NC_000016.9:g.223415T>C , CM000678.1:g.223415T>C GRCh37
NC_000016.8:g.163415T>C NCBI36
NG_000006.1:g.34279T>C
NG_059186.1:g.1766T>C
NG_059271.1:g.5570T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.301-56T>C MANE Select ENSP00000251595.6:n.301-56T>C
ENST00000251595.10:c.301-56T>C ENSP00000251595.6:n.301-56T>C
ENST00000397806.1:c.205-56T>C ENSP00000380908.1:n.205-56T>C
ENST00000482565.1:n.437-56T>C
ENST00000484216.1:n.356T>C
NM_000517.4:c.301-56T>C NP_000508.1:n.301-56T>C
NM_000517.6:c.301-56T>C MANE Select NP_000508.1:n.301-56T>C
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