Gene entry
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2
- Chromosome
- 8
- Cytoband
- 8p21.1
- Variants (rsID)
- 11
ESCO2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p21.1). Its official name is “establishment of sister chromatid cohesion N-acetyltransferase 2”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs144288263Benignsingle nucleotide variantRoberts-SC phocomelia syndrome
- rs115144373Conflicting interpretationssingle nucleotide variantRoberts-SC phocomelia syndrome|Hereditary breast ovarian cancer syndrome
- rs146312522Conflicting interpretationssingle nucleotide variantRoberts-SC phocomelia syndrome
- rs80359862Conflicting interpretationssingle nucleotide variantRoberts-SC phocomelia syndrome
- rs143539004Uncertain significancesingle nucleotide variantRoberts-SC phocomelia syndrome
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.