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Gene entry

ALS2

alsin Rho guanine nucleotide exchange factor ALS2

Chromosome
2
Cytoband
2q33.1
Variants (rsID)
29

ALS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q33.1). Its official name is “alsin Rho guanine nucleotide exchange factor ALS2”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

14 reference-table entries with clinical significance.

  • rs3219154Benignsingle nucleotide variantAmyotrophic lateral sclerosis type 2, juvenile|ALS2-Related Disorders|Infantile-onset ascending hereditary spastic paralysis|Hereditary spastic paraplegia
  • rs3219174Benignsingle nucleotide variantAmyotrophic lateral sclerosis type 2, juvenile|ALS2-Related Disorders
  • rs185911369Conflicting interpretationssingle nucleotide variantAmyotrophic lateral sclerosis type 2, juvenile|ALS2-Related Disorders|Infantile-onset ascending hereditary spastic paralysis|Hereditary spastic paraplegia
  • rs202219507Conflicting interpretationssingle nucleotide variantAmyotrophic lateral sclerosis type 2, juvenile|ALS2-Related Disorders|Peripheral axonal neuropathy|Infantile-onset ascending hereditary spastic paralysis|Toe walking|Hereditary spastic paraplegia
  • rs3219160Conflicting interpretationssingle nucleotide variantAmyotrophic lateral sclerosis type 2, juvenile|ALS2-Related Disorders|Infantile-onset ascending hereditary spastic paralysis|Hereditary spastic paraplegia
  • rs3219172Likely benignsingle nucleotide variantALS2-Related Disorders|Amyotrophic lateral sclerosis type 2, juvenile
  • rs121908137Pathogenicsingle nucleotide variantInfantile-onset ascending hereditary spastic paralysis
  • rs121908138Pathogenicsingle nucleotide variantInfantile-onset ascending hereditary spastic paralysis
  • rs121908139Pathogenicsingle nucleotide variantInfantile-onset ascending hereditary spastic paralysis
  • rs386134173PathogenicDeletionAmyotrophic lateral sclerosis type 2, juvenile
  • rs386134174PathogenicDeletionAmyotrophic lateral sclerosis type 2, juvenile|Juvenile primary lateral sclerosis
  • rs386134175PathogenicDeletionInfantile-onset ascending hereditary spastic paralysis
  • rs386134181PathogenicDeletionJuvenile primary lateral sclerosis|Infantile-onset ascending hereditary spastic paralysis
  • rs386134184Pathogenicsingle nucleotide variantJuvenile primary lateral sclerosis

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.