Gene entry
ELP2
elongator acetyltransferase complex subunit 2
- Chromosome
- 18
- Cytoband
- 18q12.2
- Variants (rsID)
- 9
ELP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q12.2). Its official name is “elongator acetyltransferase complex subunit 2”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs767713084Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Intellectual disability, autosomal recessive 58
- rs773432002Pathogenicsingle nucleotide variantInborn genetic diseases|Intellectual disability, autosomal recessive 58|ELP2-Related Disorders
- rs1785934Not classifiedmissense_variantMissense_T128P|Silent|Silent|Missense_T128P|Missense_T128P|Missense_T128P|Missense_T128P|Silent
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.