Gene entry
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
- Chromosome
- 14
- Cytoband
- 14q11.2-q12
- Variants (rsID)
- 7
PCK2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q11.2-q12). Its official name is “phosphoenolpyruvate carboxykinase 2, mitochondrial”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs35618680Benignsingle nucleotide variant
- rs77298044Benignsingle nucleotide variant
- rs138881435Conflicting interpretationssingle nucleotide variant
- rs141383988Conflicting interpretationssingle nucleotide variant
- rs148019349Conflicting interpretationssingle nucleotide variantPhosphoenolpyruvate carboxykinase deficiency, mitochondrial
- rs61752842Conflicting interpretationssingle nucleotide variantPhosphoenolpyruvate carboxykinase deficiency, mitochondrial
- rs144284959Uncertain significancesingle nucleotide variant
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.