ClinVar

NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121517460 (on Assembly GRCh38)
• Chr10: 123276974 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)

HGVS:

• NC_000010.11:g.121517460C>A
• NG_012449.2:g.85999G>T
• NM_000141.5:c.943G>TMANE SELECT
• NM_001144913.1:c.1087+1222G>T
• NM_001144914.1:c.749-2141G>T
• NM_001144915.2:c.676G>T
• NM_001144916.2:c.598G>T
• NM_001144917.2:c.939+2519G>T
• NM_001144918.2:c.598G>T
• NM_001144919.2:c.820+1222G>T
• NM_001320654.2:c.259G>T
• NM_001320658.2:c.943G>T
• NM_022970.4:c.1087+1222G>T
• NM_023029.2:c.676G>T
• NP_000132.3:p.Ala315Ser
• NP_000132.3:p.Ala315Ser
• NP_001138387.1:p.Ala226Ser
• NP_001138388.1:p.Ala200Ser
• NP_001138390.1:p.Ala200Ser
• NP_001307583.1:p.Ala87Ser
• NP_001307587.1:p.Ala315Ser
• NP_075418.1:p.Ala226Ser
• LRG_994t1:c.943G>T
• LRG_994:g.85999G>T
• LRG_994p1:p.Ala315Ser
• NC_000010.10:g.123276974C>A
• NM_000141.4:c.943G>T
• NR_073009.2:n.1379G>T
• P21802:p.Ala315Ser

This HGVS expression did not pass validation

Protein change:

A200S; ALA315SER

Links:

UniProtKB: P21802#VAR_017267; OMIM: 176943.0028; dbSNP: rs121918504

NCBI 1000 Genomes Browser:

rs121918504

Molecular consequence:

• NM_001144913.1:c.1087+1222G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144914.1:c.749-2141G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144917.2:c.939+2519G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144919.2:c.820+1222G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_022970.4:c.1087+1222G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000141.5:c.943G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144915.2:c.676G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144916.2:c.598G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144918.2:c.598G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320654.2:c.259G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320658.2:c.943G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_023029.2:c.676G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_073009.2:n.1379G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]