ClinVar

NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121520137 (on Assembly GRCh38)
• Chr10: 123279651 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg)

HGVS:

• NC_000010.11:g.121520137C>T
• NG_012449.2:g.83322G>A
• NM_000141.5:c.781G>AMANE SELECT
• NM_001144913.1:c.781G>A
• NM_001144914.1:c.749-4818G>A
• NM_001144915.2:c.514G>A
• NM_001144916.2:c.436G>A
• NM_001144917.2:c.781G>A
• NM_001144918.2:c.436G>A
• NM_001144919.2:c.514G>A
• NM_001320654.2:c.97G>A
• NM_001320658.2:c.781G>A
• NM_022969.1:c.781G>A
• NM_022970.4:c.781G>A
• NM_023029.2:c.514G>A
• NP_000132.3:p.Gly261Arg
• NP_000132.3:p.Gly261Arg
• NP_001138385.1:p.Gly261Arg
• NP_001138387.1:p.Gly172Arg
• NP_001138388.1:p.Gly146Arg
• NP_001138389.1:p.Gly261Arg
• NP_001138390.1:p.Gly146Arg
• NP_001138391.1:p.Gly172Arg
• NP_001307583.1:p.Gly33Arg
• NP_001307587.1:p.Gly261Arg
• NP_075258.1:p.Gly261Arg
• NP_075259.4:p.Gly261Arg
• NP_075259.4:p.Gly261Arg
• NP_075418.1:p.Gly172Arg
• LRG_994t1:c.781G>A
• LRG_994t2:c.781G>A
• LRG_994:g.83322G>A
• LRG_994p1:p.Gly261Arg
• LRG_994p2:p.Gly261Arg
• NC_000010.10:g.123279651C>T
• NM_000141.4:c.781G>A
• NM_022970.3:c.781G>A
• NR_073009.2:n.1069G>A

This HGVS expression did not pass validation

Protein change:

G146R

Links:

dbSNP: rs2134317947

NCBI 1000 Genomes Browser:

rs2134317947

Molecular consequence:

• NM_001144914.1:c.749-4818G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000141.5:c.781G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144913.1:c.781G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144915.2:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144916.2:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144917.2:c.781G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144918.2:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144919.2:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320654.2:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320658.2:c.781G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022969.1:c.781G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022970.4:c.781G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023029.2:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_073009.2:n.1069G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]