{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA378321431", "communityStandardTitle": [ "NM_000141.5(FGFR2):c.1646A>C (p.Asn549Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2421615[alleleid]", "alleleId": 2421615, "preferredName": "NM_000141.5(FGFR2):c.1646A>C (p.Asn549Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2446487", "RCV": [ "RCV003159317" ], "variationId": 2446487 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.123258035T>G?assembly=hg19", "id": "chr10:g.123258035T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.121498521T>G?assembly=hg38", "id": "chr10:g.121498521T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/763017169", "rs": 763017169 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 121498521, "referenceAllele": "T", "start": 121498520 } ], "hgvs": [ "NC_000010.11:g.121498521T>G", "CM000672.2:g.121498521T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 123258035, "referenceAllele": "T", "start": 123258034 } ], "hgvs": [ "NC_000010.10:g.123258035T>G", "CM000672.1:g.123258035T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 123248025, "referenceAllele": "T", "start": 123248024 } ], "hgvs": [ "NC_000010.9:g.123248025T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "C", "end": 104938, "referenceAllele": "A", "start": 104937 } ], "hgvs": [ "NG_012449.1:g.104938A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002410" }, { "coordinates": [ { "allele": "C", "end": 104938, "referenceAllele": "A", "start": 104937 } ], "hgvs": [ "NG_012449.2:g.104938A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616181" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2282, "referenceAllele": "A", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000457416.7:c.1649A>C" ], "proteinEffect": { "hgvs": "ENSP00000410294.2:p.Asn550Thr", "hgvsWellDefined": "ENSP00000410294.2:p.Asn550Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS905054", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000457416.7:c.1649A>C" }, "RefSeq": { "hgvs": "NM_022970.4:c.1649A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410294.2:p.Asn550Thr" }, "RefSeq": { "hgvs": "NP_075259.4:p.Asn550Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 2431, "referenceAllele": "A", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000351936.11:c.1640A>C" ], "proteinEffect": { "hgvs": "ENSP00000309878.10:p.Asn547Thr", "hgvsWellDefined": "ENSP00000309878.10:p.Asn547Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS824066" }, { "coordinates": [ { "allele": "C", "end": 960, "referenceAllele": "A", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000638709.2:c.470A>C" ], "proteinEffect": { "hgvs": "ENSP00000491912.2:p.Asn157Thr", "hgvsWellDefined": "ENSP00000491912.2:p.Asn157Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS826680" }, { "coordinates": [ { "allele": "C", "end": 988, "referenceAllele": "A", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000682296.1:n.988A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827290" }, { "coordinates": [ { "allele": "C", "end": 1557, "referenceAllele": "A", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000682550.1:c.1295A>C" ], "proteinEffect": { "hgvs": "ENSP00000507633.1:p.Asn432Thr", "hgvsWellDefined": "ENSP00000507633.1:p.Asn432Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS827540" }, { "coordinates": [ { "allele": "C", "end": 1308, "referenceAllele": "A", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000682772.1:c.470A>C" ], "proteinEffect": { "hgvs": "ENSP00000506848.1:p.Asn157Thr", "hgvsWellDefined": "ENSP00000506848.1:p.Asn157Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS827761" }, { "coordinates": [ { "allele": "C", "end": 466, "referenceAllele": "A", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000682904.1:n.466A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827892" }, { "coordinates": [ { "allele": "C", "end": 4634, "referenceAllele": "A", "start": 4633 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000683211.1:c.1640A>C" ], "proteinEffect": { "hgvs": "ENSP00000508257.1:p.Asn547Thr", "hgvsWellDefined": "ENSP00000508257.1:p.Asn547Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS828193" }, { "coordinates": [ { "allele": "C", "end": 1197, "referenceAllele": "A", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000683250.1:c.*348A>C" ], "proteinEffect": { "hgvs": "ENSP00000506847.1:n.*348A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS828232" }, { "coordinates": [ { "allele": "C", "end": 3987, "referenceAllele": "A", "start": 3986 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000683418.1:n.3987A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828395" }, { "coordinates": [ { "allele": "C", "end": 1850, "referenceAllele": "A", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000684153.1:c.1295A>C" ], "proteinEffect": { "hgvs": "ENSP00000506937.1:p.Asn432Thr", "hgvsWellDefined": "ENSP00000506937.1:p.Asn432Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS829111" }, { "coordinates": [ { "allele": "C", "end": 2659, "referenceAllele": "A", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000684516.1:n.2659A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829469" }, { "coordinates": [ { "allele": "C", "end": 2279, "referenceAllele": "A", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000358487.10:c.1646A>C" ], "proteinEffect": { "hgvs": "ENSP00000351276.6:p.Asn549Thr", "hgvsWellDefined": "ENSP00000351276.6:p.Asn549Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS749076", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358487.10:c.1646A>C" }, "RefSeq": { "hgvs": "NM_000141.5:c.1646A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351276.6:p.Asn549Thr" }, "RefSeq": { "hgvs": "NP_000132.3:p.Asn549Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 1958, "referenceAllele": "A", "start": 1957 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000336553.10:c.1373A>C" ], "proteinEffect": { "hgvs": "ENSP00000337665.6:p.Asn458Thr", "hgvsWellDefined": "ENSP00000337665.6:p.Asn458Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS260321" }, { "coordinates": [ { "allele": "C", "end": 1652, "referenceAllele": "A", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000346997.6:c.1640A>C" ], "proteinEffect": { "hgvs": "ENSP00000263451.5:p.Asn547Thr", "hgvsWellDefined": "ENSP00000263451.5:p.Asn547Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS262318" }, { "coordinates": [ { "allele": "C", "end": 1658, "referenceAllele": "A", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000351936.10:c.1646A>C" ], "proteinEffect": { "hgvs": "ENSP00000309878.9:p.Asn549Thr", "hgvsWellDefined": "ENSP00000309878.9:p.Asn549Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS262814" }, { "coordinates": [ { "allele": "C", "end": 1942, "referenceAllele": "A", "start": 1941 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000356226.8:c.1295A>C" ], "proteinEffect": { "hgvs": "ENSP00000348559.4:p.Asn432Thr", "hgvsWellDefined": "ENSP00000348559.4:p.Asn432Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS263693" }, { "coordinates": [ { "allele": "C", "end": 1698, "referenceAllele": "A", "start": 1697 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000357555.9:c.1379A>C" ], "proteinEffect": { "hgvs": "ENSP00000350166.5:p.Asn460Thr", "hgvsWellDefined": "ENSP00000350166.5:p.Asn460Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS264152" }, { "coordinates": [ { "allele": "C", "end": 1919, "referenceAllele": "A", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000358487.9:c.1646A>C" ], "proteinEffect": { "hgvs": "ENSP00000351276.5:p.Asn549Thr", "hgvsWellDefined": "ENSP00000351276.5:p.Asn549Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS264468" }, { "coordinates": [ { "allele": "C", "end": 2003, "referenceAllele": "A", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000360144.7:c.1382A>C" ], "proteinEffect": { "hgvs": "ENSP00000353262.3:p.Asn461Thr", "hgvsWellDefined": "ENSP00000353262.3:p.Asn461Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS265030" }, { "coordinates": [ { "allele": "C", "end": 1673, "referenceAllele": "A", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369056.5:c.1649A>C" ], "proteinEffect": { "hgvs": "ENSP00000358052.1:p.Asn550Thr", "hgvsWellDefined": "ENSP00000358052.1:p.Asn550Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS267337" }, { "coordinates": [ { "allele": "C", "end": 2072, "referenceAllele": "A", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369058.7:c.1649A>C" ], "proteinEffect": { "hgvs": "ENSP00000358054.3:p.Asn550Thr", "hgvsWellDefined": "ENSP00000358054.3:p.Asn550Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS267338" }, { "coordinates": [ { "allele": "C", "end": 1945, "referenceAllele": "A", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369059.5:c.1304A>C" ], "proteinEffect": { "hgvs": "ENSP00000358055.1:p.Asn435Thr", "hgvsWellDefined": "ENSP00000358055.1:p.Asn435Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS267339" }, { "coordinates": [ { "allele": "C", "end": 1785, "referenceAllele": "A", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369060.8:c.1298A>C" ], "proteinEffect": { "hgvs": "ENSP00000358056.4:p.Asn433Thr", "hgvsWellDefined": "ENSP00000358056.4:p.Asn433Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS267340" }, { "coordinates": [ { "allele": "C", "end": 1460, "referenceAllele": "A", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369061.8:c.1310A>C" ], "proteinEffect": { "hgvs": "ENSP00000358057.4:p.Asn437Thr", "hgvsWellDefined": "ENSP00000358057.4:p.Asn437Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS267341" }, { "coordinates": [ { "allele": "C", "end": 422, "referenceAllele": "A", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000429361.5:c.422A>C" ], "proteinEffect": { "hgvs": "ENSP00000404219.1:p.Asn141Thr", "hgvsWellDefined": "ENSP00000404219.1:p.Asn141Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS290628" }, { "coordinates": [ { "allele": "C", "end": 2241, "referenceAllele": "A", "start": 2240 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000457416.6:c.1649A>C" ], "proteinEffect": { "hgvs": "ENSP00000410294.2:p.Asn550Thr", "hgvsWellDefined": "ENSP00000410294.2:p.Asn550Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS303943" }, { "coordinates": [ { "allele": "C", "end": 1677, "referenceAllele": "A", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000478859.5:c.962A>C" ], "proteinEffect": { "hgvs": "ENSP00000474011.1:p.Asn321Thr", "hgvsWellDefined": "ENSP00000474011.1:p.Asn321Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS319363" }, { "coordinates": [ { "allele": "C", "end": 2051, "referenceAllele": "A", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000604236.5:c.*693A>C" ], "proteinEffect": { "hgvs": "ENSP00000474109.1:n.*693A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS398949" }, { "coordinates": [ { "allele": "C", "end": 2026, "referenceAllele": "A", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000613048.4:c.1379A>C" ], "proteinEffect": { "hgvs": "ENSP00000484154.1:p.Asn460Thr", "hgvsWellDefined": "ENSP00000484154.1:p.Asn460Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS401574" }, { "@id": "http://reg.genome.network/allele/PA2825061220", "coordinates": [ { "allele": "C", "end": 2293, "referenceAllele": "A", "start": 2292 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_000141.4:c.1646A>C" ], "proteinEffect": { "hgvs": "NP_000132.3:p.Asn549Thr", "hgvsWellDefined": "NP_000132.3:p.Asn549Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006203" }, { "@id": "http://reg.genome.network/allele/PA2825871411", "coordinates": [ { "allele": "C", "end": 1799, "referenceAllele": "A", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144913.1:c.1649A>C" ], "proteinEffect": { "hgvs": "NP_001138385.1:p.Asn550Thr", "hgvsWellDefined": "NP_001138385.1:p.Asn550Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS013351" }, { "@id": "http://reg.genome.network/allele/PA2825871704", "coordinates": [ { "allele": "C", "end": 1460, "referenceAllele": "A", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144914.1:c.1310A>C" ], "proteinEffect": { "hgvs": "NP_001138386.1:p.Asn437Thr", "hgvsWellDefined": "NP_001138386.1:p.Asn437Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS013352" }, { "@id": "http://reg.genome.network/allele/PA2825872099", "coordinates": [ { "allele": "C", "end": 1698, "referenceAllele": "A", "start": 1697 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144915.1:c.1379A>C" ], "proteinEffect": { "hgvs": "NP_001138387.1:p.Asn460Thr", "hgvsWellDefined": "NP_001138387.1:p.Asn460Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS013353" }, { "@id": "http://reg.genome.network/allele/PA2825872467", "coordinates": [ { "allele": "C", "end": 1742, "referenceAllele": "A", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144916.1:c.1301A>C" ], "proteinEffect": { "hgvs": "NP_001138388.1:p.Asn434Thr", "hgvsWellDefined": "NP_001138388.1:p.Asn434Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS013354" }, { "@id": "http://reg.genome.network/allele/PA2825872800", "coordinates": [ { "allele": "C", "end": 1945, "referenceAllele": "A", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144917.1:c.1298A>C" ], "proteinEffect": { "hgvs": "NP_001138389.1:p.Asn433Thr", "hgvsWellDefined": "NP_001138389.1:p.Asn433Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS013355" }, { "@id": "http://reg.genome.network/allele/PA2825873177", "coordinates": [ { "allele": "C", "end": 1942, "referenceAllele": "A", "start": 1941 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144918.1:c.1295A>C" ], "proteinEffect": { "hgvs": "NP_001138390.1:p.Asn432Thr", "hgvsWellDefined": "NP_001138390.1:p.Asn432Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS013356" }, { "@id": "http://reg.genome.network/allele/PA2825873511", "coordinates": [ { "allele": "C", "end": 2029, "referenceAllele": "A", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144919.1:c.1382A>C" ], "proteinEffect": { "hgvs": "NP_001138391.1:p.Asn461Thr", "hgvsWellDefined": "NP_001138391.1:p.Asn461Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS013357" }, { "@id": "http://reg.genome.network/allele/PA2580459799", "coordinates": [ { "allele": "C", "end": 2296, "referenceAllele": "A", "start": 2295 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_022970.3:c.1649A>C" ], "proteinEffect": { "hgvs": "NP_075259.4:p.Asn550Thr", "hgvsWellDefined": "NP_075259.4:p.Asn550Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS037524" }, { "@id": "http://reg.genome.network/allele/PA2830009001", "coordinates": [ { "allele": "C", "end": 1529, "referenceAllele": "A", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_023029.2:c.1379A>C" ], "proteinEffect": { "hgvs": "NP_075418.1:p.Asn460Thr", "hgvsWellDefined": "NP_075418.1:p.Asn460Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS037544" }, { "coordinates": [ { "allele": "C", "end": 2096, "referenceAllele": "A", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NR_073009.1:n.2096A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS052421" }, { "coordinates": [ { "allele": "C", "end": 2488, "referenceAllele": "A", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717708.2:c.1700A>C" ], "proteinEffect": { "hgvs": "XP_006717771.1:p.Asn567Thr", "hgvsWellDefined": "XP_006717771.1:p.Asn567Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS072285" }, { "coordinates": [ { "allele": "C", "end": 2485, "referenceAllele": "A", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717709.2:c.1697A>C" ], "proteinEffect": { "hgvs": "XP_006717772.1:p.Asn566Thr", "hgvsWellDefined": "XP_006717772.1:p.Asn566Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS072286" }, { "coordinates": [ { "allele": "C", "end": 2494, "referenceAllele": "A", "start": 2493 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717710.2:c.1706A>C" ], "proteinEffect": { "hgvs": "XP_006717773.1:p.Asn569Thr", "hgvsWellDefined": "XP_006717773.1:p.Asn569Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS072287" }, { "coordinates": [ { "allele": "C", "end": 1532, "referenceAllele": "A", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717711.2:c.1439A>C" ], "proteinEffect": { "hgvs": "XP_006717774.1:p.Asn480Thr", "hgvsWellDefined": "XP_006717774.1:p.Asn480Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS072288" }, { "coordinates": [ { "allele": "C", "end": 1454, "referenceAllele": "A", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717712.2:c.1361A>C" ], "proteinEffect": { "hgvs": "XP_006717775.1:p.Asn454Thr", "hgvsWellDefined": "XP_006717775.1:p.Asn454Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS072289" }, { "coordinates": [ { "allele": "C", "end": 2491, "referenceAllele": "A", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717713.2:c.1703A>C" ], "proteinEffect": { "hgvs": "XP_006717776.1:p.Asn568Thr", "hgvsWellDefined": "XP_006717776.1:p.Asn568Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS072290" }, { "coordinates": [ { "allele": "C", "end": 1159, "referenceAllele": "A", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_011539510.1:c.962A>C" ], "proteinEffect": { "hgvs": "XP_011537812.1:p.Asn321Thr", "hgvsWellDefined": "XP_011537812.1:p.Asn321Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS106460" }, { "@id": "http://reg.genome.network/allele/PA2827050823", "coordinates": [ { "allele": "C", "end": 1677, "referenceAllele": "A", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320654.1:c.962A>C" ], "proteinEffect": { "hgvs": "NP_001307583.1:p.Asn321Thr", "hgvsWellDefined": "NP_001307583.1:p.Asn321Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513707" }, { "@id": "http://reg.genome.network/allele/PA2827051249", "coordinates": [ { "allele": "C", "end": 2287, "referenceAllele": "A", "start": 2286 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320658.1:c.1640A>C" ], "proteinEffect": { "hgvs": "NP_001307587.1:p.Asn547Thr", "hgvsWellDefined": "NP_001307587.1:p.Asn547Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513711" }, { "coordinates": [ { "allele": "C", "end": 1918, "referenceAllele": "A", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717708.3:c.1700A>C" ], "proteinEffect": { "hgvs": "XP_006717771.1:p.Asn567Thr", "hgvsWellDefined": "XP_006717771.1:p.Asn567Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS539461" }, { "coordinates": [ { "allele": "C", "end": 1924, "referenceAllele": "A", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717710.4:c.1706A>C" ], "proteinEffect": { "hgvs": "XP_006717773.1:p.Asn569Thr", "hgvsWellDefined": "XP_006717773.1:p.Asn569Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS539462" }, { "coordinates": [ { "allele": "C", "end": 1918, "referenceAllele": "A", "start": 1917 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015920.2:c.1700A>C" ], "proteinEffect": { "hgvs": "XP_016871409.1:p.Asn567Thr", "hgvsWellDefined": "XP_016871409.1:p.Asn567Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS568504" }, { "coordinates": [ { "allele": "C", "end": 1915, "referenceAllele": "A", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015921.2:c.1697A>C" ], "proteinEffect": { "hgvs": "XP_016871410.1:p.Asn566Thr", "hgvsWellDefined": "XP_016871410.1:p.Asn566Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS568505" }, { "coordinates": [ { "allele": "C", "end": 1541, "referenceAllele": "A", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015924.2:c.1358A>C" ], "proteinEffect": { "hgvs": "XP_016871413.1:p.Asn453Thr", "hgvsWellDefined": "XP_016871413.1:p.Asn453Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS568506" }, { "coordinates": [ { "allele": "C", "end": 1815, "referenceAllele": "A", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015925.2:c.1352A>C" ], "proteinEffect": { "hgvs": "XP_016871414.1:p.Asn451Thr", "hgvsWellDefined": "XP_016871414.1:p.Asn451Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS568507" }, { "coordinates": [ { "allele": "C", "end": 1619, "referenceAllele": "A", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447887.1:c.1436A>C" ], "proteinEffect": { "hgvs": "XP_024303655.1:p.Asn479Thr", "hgvsWellDefined": "XP_024303655.1:p.Asn479Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS581468" }, { "coordinates": [ { "allele": "C", "end": 1616, "referenceAllele": "A", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447888.1:c.1433A>C" ], "proteinEffect": { "hgvs": "XP_024303656.1:p.Asn478Thr", "hgvsWellDefined": "XP_024303656.1:p.Asn478Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS581469" }, { "coordinates": [ { "allele": "C", "end": 1613, "referenceAllele": "A", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447889.1:c.1430A>C" ], "proteinEffect": { "hgvs": "XP_024303657.1:p.Asn477Thr", "hgvsWellDefined": "XP_024303657.1:p.Asn477Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS581470" }, { "coordinates": [ { "allele": "C", "end": 2029, "referenceAllele": "A", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447890.1:c.1439A>C" ], "proteinEffect": { "hgvs": "XP_024303658.1:p.Asn480Thr", "hgvsWellDefined": "XP_024303658.1:p.Asn480Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS581471" }, { "coordinates": [ { "allele": "C", "end": 1544, "referenceAllele": "A", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447891.1:c.1361A>C" ], "proteinEffect": { "hgvs": "XP_024303659.1:p.Asn454Thr", "hgvsWellDefined": "XP_024303659.1:p.Asn454Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS581472" }, { "coordinates": [ { "allele": "C", "end": 3656, "referenceAllele": "A", "start": 3655 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447892.1:c.476A>C" ], "proteinEffect": { "hgvs": "XP_024303660.1:p.Asn159Thr", "hgvsWellDefined": "XP_024303660.1:p.Asn159Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS581473" }, { "@id": "http://reg.genome.network/allele/PA2825061220", "coordinates": [ { "allele": "C", "end": 2279, "referenceAllele": "A", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_000141.5:c.1646A>C" ], "proteinEffect": { "hgvs": "NP_000132.3:p.Asn549Thr", "hgvsWellDefined": "NP_000132.3:p.Asn549Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674724", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358487.10:c.1646A>C" }, "RefSeq": { "hgvs": "NM_000141.5:c.1646A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351276.6:p.Asn549Thr" }, "RefSeq": { "hgvs": "NP_000132.3:p.Asn549Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2825872800", "coordinates": [ { "allele": "C", "end": 1931, "referenceAllele": "A", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144917.2:c.1298A>C" ], "proteinEffect": { "hgvs": "NP_001138389.1:p.Asn433Thr", "hgvsWellDefined": "NP_001138389.1:p.Asn433Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS677757" }, { "@id": "http://reg.genome.network/allele/PA2825873177", "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144918.2:c.1295A>C" ], "proteinEffect": { "hgvs": "NP_001138390.1:p.Asn432Thr", "hgvsWellDefined": "NP_001138390.1:p.Asn432Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS677758" }, { "@id": "http://reg.genome.network/allele/PA2825873511", "coordinates": [ { "allele": "C", "end": 2015, "referenceAllele": "A", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144919.2:c.1382A>C" ], "proteinEffect": { "hgvs": "NP_001138391.1:p.Asn461Thr", "hgvsWellDefined": "NP_001138391.1:p.Asn461Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS677759" }, { "@id": "http://reg.genome.network/allele/PA2827051249", "coordinates": [ { "allele": "C", "end": 2273, "referenceAllele": "A", "start": 2272 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320658.2:c.1640A>C" ], "proteinEffect": { "hgvs": "NP_001307587.1:p.Asn547Thr", "hgvsWellDefined": "NP_001307587.1:p.Asn547Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS684993" }, { "coordinates": [ { "allele": "C", "end": 2082, "referenceAllele": "A", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NR_073009.2:n.2082A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS702637" }, { "@id": "http://reg.genome.network/allele/PA2825872099", "coordinates": [ { "allele": "C", "end": 1698, "referenceAllele": "A", "start": 1697 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144915.2:c.1379A>C" ], "proteinEffect": { "hgvs": "NP_001138387.1:p.Asn460Thr", "hgvsWellDefined": "NP_001138387.1:p.Asn460Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712725" }, { "@id": "http://reg.genome.network/allele/PA2825872467", "coordinates": [ { "allele": "C", "end": 1742, "referenceAllele": "A", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144916.2:c.1301A>C" ], "proteinEffect": { "hgvs": "NP_001138388.1:p.Asn434Thr", "hgvsWellDefined": "NP_001138388.1:p.Asn434Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712726" }, { "@id": "http://reg.genome.network/allele/PA2827050823", "coordinates": [ { "allele": "C", "end": 1677, "referenceAllele": "A", "start": 1676 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320654.2:c.962A>C" ], "proteinEffect": { "hgvs": "NP_001307583.1:p.Asn321Thr", "hgvsWellDefined": "NP_001307583.1:p.Asn321Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS717810" } ], "type": "nucleotide" }