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Gene entry

MAP2K2

mitogen-activated protein kinase kinase 2

Chromosome
19
Cytoband
19p13.3
Variants (rsID)
15

MAP2K2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.3). Its official name is “mitogen-activated protein kinase kinase 2”. The reference table lists 15 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs144383241Benignsingle nucleotide variantRASopathy|Noonan syndrome|Cardiofaciocutaneous syndrome 4
  • rs727504836Conflicting interpretationssingle nucleotide variantRASopathy|Noonan syndrome and Noonan-related syndrome
  • rs377675706Likely benignsingle nucleotide variantRASopathy|Noonan syndrome and Noonan-related syndrome
  • rs121434499Likely pathogenicsingle nucleotide variantCardio-facio-cutaneous syndrome|Cardiofaciocutaneous syndrome 4|RASopathy|Noonan syndrome and Noonan-related syndrome
  • rs387906800Likely pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 4|RASopathy
  • rs121434497Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 4|Cardio-facio-cutaneous syndrome
  • rs121434498Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 4|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Cardio-facio-cutaneous syndrome
  • rs267607230Pathogenicsingle nucleotide variantCardiofaciocutaneous syndrome 4|Cardio-facio-cutaneous syndrome
  • rs730880511Uncertain significancesingle nucleotide variantRASopathy|Noonan syndrome and Noonan-related syndrome|Noonan syndrome with multiple lentigines|Cardiofaciocutaneous syndrome 4

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.