Canonical Allele Identifier: CA125601
Gene: HBA2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.173485G>A
GRCh37 chr16:g.223484G>A
Revel Score:
ENST00000251595 (MANE Select) 0.678
ENST00000534957 0.678
ENST00000397806 0.678
gnomAD v2:
16:223484 G / A
gnomAD v4:
chr16-173485-G-A
Joint Max Group AF 0.00005199 (SAS)
Exomes Max Group AF 0.00005456 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173485G>A , CM000678.2:g.173485G>A GRCh38
NC_000016.9:g.223484G>A , CM000678.1:g.223484G>A GRCh37
NC_000016.8:g.163484G>A NCBI36
NG_000006.1:g.34348G>A
NG_059186.1:g.1835G>A
NG_059271.1:g.5639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.314G>A MANE Select ENSP00000251595.6:p.Cys105Tyr
ENST00000251595.10:c.314G>A ENSP00000251595.6:p.Cys105Tyr
ENST00000397806.1:c.218G>A ENSP00000380908.1:p.Cys73Tyr
ENST00000482565.1:n.450G>A
NM_000517.4:c.314G>A NP_000508.1:p.Cys105Tyr
NM_000517.6:c.314G>A MANE Select NP_000508.1:p.Cys105Tyr
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