ClinVar

NM_030662.4(MAP2K2):c.399C>T (p.Phe133=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 4110560 (on Assembly GRCh38)
• Chr19: 4110558 (on Assembly GRCh37)

Preferred name:

NM_030662.4(MAP2K2):c.399C>T (p.Phe133=)

HGVS:

• NC_000019.10:g.4110560G>A
• NG_007996.1:g.18569C>T
• NM_030662.4:c.399C>TMANE SELECT
• NP_109587.1:p.Phe133=
• NP_109587.1:p.Phe133=
• LRG_750t1:c.399C>T
• LRG_750:g.18569C>T
• LRG_750p1:p.Phe133=
• NC_000019.9:g.4110558G>A
• NM_030662.3:c.399C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs145524962

NCBI 1000 Genomes Browser:

rs145524962

Molecular consequence:

• NM_030662.4:c.399C>T - synonymous variant - [Sequence Ontology: SO:0001819]