Gene entry
GYS2
glycogen synthase 2
- Chromosome
- 12
- Cytoband
- 12p12.1
- Variants (rsID)
- 40
GYS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p12.1). Its official name is “glycogen synthase 2”. The reference table lists 40 variants (rsID) for this gene.
Clinically classified variants
18 reference-table entries with clinical significance.
- rs117474773Benignsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs139043251Benignsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs142656537Benignsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs142883971Benignsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs149533049Benignsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs16924002Benignsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs2306180Benignsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs61733199Benignsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs121918420Conflicting interpretationssingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs139882761Conflicting interpretationssingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs150433001Conflicting interpretationssingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs192853475Conflicting interpretationssingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs777032042Conflicting interpretationssingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs121918421Pathogenicsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs121918423Pathogenicsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs121918425Pathogenicsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs201157731Pathogenicsingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
- rs121918422Uncertain significancesingle nucleotide variantGlycogen storage disorder due to hepatic glycogen synthase deficiency
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.
