Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

CHMP2B

charged multivesicular body protein 2B

Chromosome
3
Cytoband
3p11.2
Variants (rsID)
13

CHMP2B is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p11.2). Its official name is “charged multivesicular body protein 2B”. The reference table lists 13 variants (rsID) for this gene.

Clinically classified variants

6 reference-table entries with clinical significance.

  • rs1044499Benignsingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 7
  • rs17189270Benignsingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 7
  • rs77328592Benignsingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 7
  • rs192188850Conflicting interpretationssingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 7
  • rs63751126Pathogenicsingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 7
  • rs63750818Uncertain significancesingle nucleotide variantFrontotemporal dementia and/or amyotrophic lateral sclerosis 7

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.