Canonical Allele Identifier: CA393993433
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v3: 16-173193-A-C
gnomAD v4: 16-173193-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173193A>C , CM000678.2:g.173193A>C GRCh38
NC_000016.9:g.223192A>C , CM000678.1:g.223192A>C GRCh37
NC_000016.8:g.163192A>C NCBI36
NG_000006.1:g.34056A>C
NG_059186.1:g.1543A>C
NG_059271.1:g.5347A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.164A>C MANE Select ENSP00000251595.6:p.Gln55Pro
ENST00000251595.10:c.164A>C ENSP00000251595.6:p.Gln55Pro
ENST00000397806.1:c.68A>C ENSP00000380908.1:p.Gln23Pro
ENST00000482565.1:n.300A>C
ENST00000484216.1:n.133A>C
NM_000517.4:c.164A>C NP_000508.1:p.Gln55Pro
NM_000517.6:c.164A>C MANE Select NP_000508.1:p.Gln55Pro