Gene entry

CA2

carbonic anhydrase 2

Chromosome: 8
Cytoband: 8q21.2
Variants (rsID): 4

CA2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q21.2). Its official name is “carbonic anhydrase 2”. The reference table lists 4 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

rs2228063Benignsingle nucleotide variantCARBONIC ANHYDRASE II VARIANT|Osteopetrosis with renal tubular acidosis
rs573750741Pathogenicsingle nucleotide variantOsteopetrosis with renal tubular acidosis
rs201928238Uncertain significancesingle nucleotide variantOsteopetrosis with renal tubular acidosis

Other listed variants

rs10106305

Public references

NCBI Gene
Ensembl
ClinVar

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.