Gene entry
NOTCH2
notch receptor 2
- Chromosome
- 1
- Cytoband
- 1p12
- Variants (rsID)
- 20
NOTCH2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p12). Its official name is “notch receptor 2”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs147223770Benignsingle nucleotide variantHajdu-Cheney syndrome
- rs34308573Benignsingle nucleotide variant
- rs35586704Benignsingle nucleotide variantHajdu-Cheney syndrome|Hirschsprung disease, susceptibility to, 1|See cases
- rs75423398Benignsingle nucleotide variantHajdu-Cheney syndrome
- rs147522485Conflicting interpretationssingle nucleotide variantHajdu-Cheney syndrome
- rs312262801Pathogenicsingle nucleotide variant
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.