Canonical Allele Identifier: CA276414731
Community Standard Title: NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)
Gene: HBA2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173208G>A , CM000678.2:g.173208G>A GRCh38
NC_000016.9:g.223207G>A , CM000678.1:g.223207G>A GRCh37
NC_000016.8:g.163207G>A NCBI36
NG_000006.1:g.34071G>A
NG_059186.1:g.1558G>A
NG_059271.1:g.5362G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000517.6:c.179G>A MANE Select NP_000508.1:p.Gly60Asp
ENST00000251595.11:c.179G>A MANE Select ENSP00000251595.6:p.Gly60Asp
NM_000517.4:c.179G>A NP_000508.1:p.Gly60Asp
ENST00000251595.10:c.179G>A ENSP00000251595.6:p.Gly60Asp
ENST00000397806.1:c.83G>A ENSP00000380908.1:p.Gly28Asp
ENST00000482565.1:n.315G>A
ENST00000484216.1:n.148G>A
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