ClinVar

NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met)

Gene:

MAP2K2:mitogen-activated protein kinase kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 4117431 (on Assembly GRCh38)
• Chr19: 4117429 (on Assembly GRCh37)

Preferred name:

NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met)

HGVS:

• NC_000019.10:g.4117431G>C
• NG_007996.1:g.11698C>G
• NM_030662.4:c.291C>GMANE SELECT
• NP_109587.1:p.Ile97Met
• NP_109587.1:p.Ile97Met
• LRG_750t1:c.291C>G
• LRG_750:g.11698C>G
• LRG_750p1:p.Ile97Met
• NC_000019.9:g.4117429G>C
• NM_030662.3:c.291C>G

This HGVS expression did not pass validation

Protein change:

I97M

Links:

dbSNP: rs200918323

NCBI 1000 Genomes Browser:

rs200918323

Molecular consequence:

• NM_030662.4:c.291C>G - missense variant - [Sequence Ontology: SO:0001583]