Canonical Allele Identifier: CA393993167
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172997G>C , CM000678.2:g.172997G>C GRCh38
NC_000016.9:g.222996G>C , CM000678.1:g.222996G>C GRCh37
NC_000016.8:g.162996G>C NCBI36
NG_000006.1:g.33860G>C
NG_059186.1:g.1347G>C
NG_059271.1:g.5151G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.85G>C MANE Select ENSP00000251595.6:p.Ala29Pro
ENST00000251595.10:c.85G>C ENSP00000251595.6:p.Ala29Pro
ENST00000397806.1:c.-2+39G>C ENSP00000380908.1:n.-2+39G>C
ENST00000482565.1:n.104G>C
ENST00000484216.1:n.54G>C
NM_000517.4:c.85G>C NP_000508.1:p.Ala29Pro
NM_000517.6:c.85G>C MANE Select NP_000508.1:p.Ala29Pro