ClinVar

NM_000141.5(FGFR2):c.940G>T (p.Ala314Ser)

Gene:

FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121517463 (on Assembly GRCh38)
• Chr10: 123276977 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.940G>T (p.Ala314Ser)

HGVS:

• NC_000010.11:g.121517463C>A
• NG_012449.2:g.85996G>T
• NM_000141.5:c.940G>TMANE SELECT
• NM_001144913.1:c.1087+1219G>T
• NM_001144914.1:c.749-2144G>T
• NM_001144915.2:c.673G>T
• NM_001144916.2:c.595G>T
• NM_001144917.2:c.939+2516G>T
• NM_001144918.2:c.595G>T
• NM_001144919.2:c.820+1219G>T
• NM_001320654.2:c.256G>T
• NM_001320658.2:c.940G>T
• NM_022970.4:c.1087+1219G>T
• NM_023029.2:c.673G>T
• NP_000132.3:p.Ala314Ser
• NP_000132.3:p.Ala314Ser
• NP_001138387.1:p.Ala225Ser
• NP_001138388.1:p.Ala199Ser
• NP_001138390.1:p.Ala199Ser
• NP_001307583.1:p.Ala86Ser
• NP_001307587.1:p.Ala314Ser
• NP_075418.1:p.Ala225Ser
• LRG_994t1:c.940G>T
• LRG_994:g.85996G>T
• LRG_994p1:p.Ala314Ser
• NC_000010.10:g.123276977C>A
• NM_000141.4:c.940G>T
• NR_073009.2:n.1376G>T

This HGVS expression did not pass validation

Protein change:

A199S

Links:

dbSNP: rs1358919643

NCBI 1000 Genomes Browser:

rs1358919643

Molecular consequence:

• NM_001144913.1:c.1087+1219G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144914.1:c.749-2144G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144917.2:c.939+2516G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144919.2:c.820+1219G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_022970.4:c.1087+1219G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000141.5:c.940G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144915.2:c.673G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144916.2:c.595G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144918.2:c.595G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320654.2:c.256G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320658.2:c.940G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_023029.2:c.673G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_073009.2:n.1376G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]