Gene entry
COL9A2
collagen type IX alpha 2 chain
- Chromosome
- 1
- Cytoband
- 1p34.2
- Variants (rsID)
- 16
COL9A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.2). Its official name is “collagen type IX alpha 2 chain”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs115504008Benignsingle nucleotide variant
- rs12077871Benignsingle nucleotide variantEpiphyseal dysplasia, multiple, 2
- rs2228565Benignsingle nucleotide variantEpiphyseal dysplasia, multiple, 2|Connective tissue disorder
- rs2273195Benignsingle nucleotide variant
- rs364281Benignsingle nucleotide variant
- rs3737821Benignsingle nucleotide variantEpiphyseal dysplasia, multiple, 2
- rs138882727Conflicting interpretationssingle nucleotide variantEpiphyseal dysplasia, multiple, 2
- rs142974512Conflicting interpretationssingle nucleotide variantEpiphyseal dysplasia, multiple, 2
- rs148008235Conflicting interpretationssingle nucleotide variantEpiphyseal dysplasia, multiple, 2
- rs150687987Conflicting interpretationssingle nucleotide variantEpiphyseal dysplasia, multiple, 2|Connective tissue disorder
- rs201054854Conflicting interpretationssingle nucleotide variantEpiphyseal dysplasia, multiple, 2
- rs117337557Likely benignsingle nucleotide variant
- rs117728155Likely benignsingle nucleotide variant
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.