ClinVar

NM_000141.5(FGFR2):c.2232C>T (p.Pro744=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 121483767 (on Assembly GRCh38)
• Chr10: 123243281 (on Assembly GRCh37)

Preferred name:

NM_000141.5(FGFR2):c.2232C>T (p.Pro744=)

HGVS:

• NC_000010.11:g.121483767G>A
• NG_012449.2:g.119692C>T
• NM_000141.5:c.2232C>TMANE SELECT
• NM_001144913.1:c.2235C>T
• NM_001144914.1:c.1896C>T
• NM_001144915.2:c.1965C>T
• NM_001144916.2:c.1887C>T
• NM_001144917.2:c.1884C>T
• NM_001144918.2:c.1881C>T
• NM_001144919.2:c.1968C>T
• NM_001320654.2:c.1548C>T
• NM_001320658.2:c.2226C>T
• NM_022969.1:c.2235C>T
• NM_022970.4:c.2235C>T
• NM_023029.2:c.1965C>T
• NP_000132.3:p.Pro744=
• NP_000132.3:p.Pro744=
• NP_001138385.1:p.Pro745=
• NP_001138386.1:p.Pro632=
• NP_001138387.1:p.Pro655=
• NP_001138388.1:p.Pro629=
• NP_001138389.1:p.Pro628=
• NP_001138390.1:p.Pro627=
• NP_001138391.1:p.Pro656=
• NP_001307583.1:p.Pro516=
• NP_001307587.1:p.Pro742=
• NP_075258.1:p.Pro745=
• NP_075259.4:p.Pro745=
• NP_075259.4:p.Pro745=
• NP_075418.1:p.Pro655=
• LRG_994t1:c.2232C>T
• LRG_994t2:c.2235C>T
• LRG_994:g.119692C>T
• LRG_994p1:p.Pro744=
• LRG_994p2:p.Pro745=
• NC_000010.10:g.123243281G>A
• NC_000010.10:g.123243281G>A
• NM_000141.4:c.2232C>T
• NM_022970.3:c.2235C>T
• NR_073009.2:n.2668C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs142639988

NCBI 1000 Genomes Browser:

rs142639988

Molecular consequence:

• NR_073009.2:n.2668C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000141.5:c.2232C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144913.1:c.2235C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144914.1:c.1896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144915.2:c.1965C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144916.2:c.1887C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144917.2:c.1884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144918.2:c.1881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001144919.2:c.1968C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320654.2:c.1548C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320658.2:c.2226C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022969.1:c.2235C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022970.4:c.2235C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_023029.2:c.1965C>T - synonymous variant - [Sequence Ontology: SO:0001819]