Gene entry
ALAS2
5'-aminolevulinate synthase 2
- Chromosome
- X
- Cytoband
- Xp11.21
- Variants (rsID)
- 13
ALAS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.21). Its official name is “5'-aminolevulinate synthase 2”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs140772352Benignsingle nucleotide variantX-linked sideroblastic anemia 1
- rs201799139Benignsingle nucleotide variantX-linked sideroblastic anemia 1
- rs201062903Conflicting interpretationssingle nucleotide variantX-linked sideroblastic anemia 1
- rs137852304Likely pathogenicsingle nucleotide variantSideroblastic anemia 1, late-onset|X-linked sideroblastic anemia 1
- rs137852299Pathogenicsingle nucleotide variantX-linked sideroblastic anemia 1
- rs137852300Pathogenicsingle nucleotide variantX-linked sideroblastic anemia 1
- rs137852303Pathogenicsingle nucleotide variantSideroblastic anemia 1, late-onset
- rs137852309Pathogenicsingle nucleotide variantX-linked sideroblastic anemia 1
- rs137852311Pathogenicsingle nucleotide variantX-linked sideroblastic anemia 1
- rs28935484Pathogenicsingle nucleotide variantAnemia, hereditary sideroblastic 1, pyridoxine refractory
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.