Canonical Allele Identifier: CA973581907
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v3: 16-173108-T-C
gnomAD v4: 16-173108-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173108T>C , CM000678.2:g.173108T>C GRCh38
NC_000016.9:g.223107T>C , CM000678.1:g.223107T>C GRCh37
NC_000016.8:g.163107T>C NCBI36
NG_000006.1:g.33971T>C
NG_059186.1:g.1458T>C
NG_059271.1:g.5262T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.96-17T>C MANE Select ENSP00000251595.6:n.96-17T>C
ENST00000251595.10:c.96-17T>C ENSP00000251595.6:n.96-17T>C
ENST00000397806.1:c.-1-17T>C ENSP00000380908.1:n.-1-17T>C
ENST00000482565.1:n.215T>C
ENST00000484216.1:n.65-17T>C
NM_000517.4:c.96-17T>C NP_000508.1:n.96-17T>C
NM_000517.6:c.96-17T>C MANE Select NP_000508.1:n.96-17T>C
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