ClinVar

NM_000141.5(FGFR2):c.1974A>T (p.Lys658Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121488003 (on Assembly GRCh38)
• Chr10: 123247517 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.1974A>T (p.Lys658Asn)

HGVS:

• NC_000010.11:g.121488003T>A
• NG_012449.2:g.115456A>T
• NM_000141.5:c.1974A>TMANE SELECT
• NM_001144913.1:c.1977A>T
• NM_001144914.1:c.1638A>T
• NM_001144915.2:c.1707A>T
• NM_001144916.2:c.1629A>T
• NM_001144917.2:c.1626A>T
• NM_001144918.2:c.1623A>T
• NM_001144919.2:c.1710A>T
• NM_001320654.2:c.1290A>T
• NM_001320658.2:c.1968A>T
• NM_022969.1:c.1977A>T
• NM_022970.4:c.1977A>T
• NM_023029.2:c.1707A>T
• NP_000132.3:p.Lys658Asn
• NP_000132.3:p.Lys658Asn
• NP_001138385.1:p.Lys659Asn
• NP_001138386.1:p.Lys546Asn
• NP_001138387.1:p.Lys569Asn
• NP_001138388.1:p.Lys543Asn
• NP_001138389.1:p.Lys542Asn
• NP_001138390.1:p.Lys541Asn
• NP_001138391.1:p.Lys570Asn
• NP_001307583.1:p.Lys430Asn
• NP_001307587.1:p.Lys656Asn
• NP_075258.1:p.Lys659Asn
• NP_075259.4:p.Lys659Asn
• NP_075259.4:p.Lys659Asn
• NP_075418.1:p.Lys569Asn
• LRG_994t1:c.1974A>T
• LRG_994t2:c.1977A>T
• LRG_994:g.115456A>T
• LRG_994p1:p.Lys658Asn
• LRG_994p2:p.Lys659Asn
• NC_000010.10:g.123247517T>A
• NM_000141.4:c.1974A>T
• NM_022970.3:c.1977A>T
• NR_073009.2:n.2410A>T

This HGVS expression did not pass validation

Protein change:

K430N

Links:

dbSNP: rs1057520029

NCBI 1000 Genomes Browser:

rs1057520029

Molecular consequence:

• NM_000141.5:c.1974A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144913.1:c.1977A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144914.1:c.1638A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144915.2:c.1707A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144916.2:c.1629A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144917.2:c.1626A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144918.2:c.1623A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144919.2:c.1710A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320654.2:c.1290A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320658.2:c.1968A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022969.1:c.1977A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022970.4:c.1977A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_023029.2:c.1707A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_073009.2:n.2410A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]