{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA378323223", "communityStandardTitle": [ "NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537869[alleleid]", "alleleId": 537869, "preferredName": "NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547378", "RCV": [ "RCV000659648" ], "variationId": 547378 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.123260424C>A?assembly=hg19", "id": "chr10:g.123260424C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.121500910C>A?assembly=hg38", "id": "chr10:g.121500910C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554917471", "rs": 1554917471 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 121500910, "referenceAllele": "C", "start": 121500909 } ], "hgvs": [ "NC_000010.11:g.121500910C>A", "CM000672.2:g.121500910C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 123260424, "referenceAllele": "C", "start": 123260423 } ], "hgvs": [ "NC_000010.10:g.123260424C>A", "CM000672.1:g.123260424C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 123250414, "referenceAllele": "C", "start": 123250413 } ], "hgvs": [ "NC_000010.9:g.123250414C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 102549, "referenceAllele": "G", "start": 102548 } ], "hgvs": [ "NG_012449.1:g.102549G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002410" }, { "coordinates": [ { "allele": "T", "end": 102549, "referenceAllele": "G", "start": 102548 } ], "hgvs": [ "NG_012449.2:g.102549G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616181" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2113, "referenceAllele": "G", "start": 2112 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000457416.7:c.1480G>T" ], "proteinEffect": { "hgvs": "ENSP00000410294.2:p.Gly494Trp", "hgvsWellDefined": "ENSP00000410294.2:p.Gly494Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS905054", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000457416.7:c.1480G>T" }, "RefSeq": { "hgvs": "NM_022970.4:c.1480G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000410294.2:p.Gly494Trp" }, "RefSeq": { "hgvs": "NP_075259.4:p.Gly494Trp" } } } }, { "coordinates": [ { "allele": "T", "end": 2262, "referenceAllele": "G", "start": 2261 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000351936.11:c.1471G>T" ], "proteinEffect": { "hgvs": "ENSP00000309878.10:p.Gly491Trp", "hgvsWellDefined": "ENSP00000309878.10:p.Gly491Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS824066" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "G", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000638709.2:c.301G>T" ], "proteinEffect": { "hgvs": "ENSP00000491912.2:p.Gly101Trp", "hgvsWellDefined": "ENSP00000491912.2:p.Gly101Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS826680" }, { "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000682296.1:n.819G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827290" }, { "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "G", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000682550.1:c.1126G>T" ], "proteinEffect": { "hgvs": "ENSP00000507633.1:p.Gly376Trp", "hgvsWellDefined": "ENSP00000507633.1:p.Gly376Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS827540" }, { "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "G", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000682772.1:c.301G>T" ], "proteinEffect": { "hgvs": "ENSP00000506848.1:p.Gly101Trp", "hgvsWellDefined": "ENSP00000506848.1:p.Gly101Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS827761" }, { "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000682904.1:n.297G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827892" }, { "coordinates": [ { "allele": "T", "end": 4465, "referenceAllele": "G", "start": 4464 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000683211.1:c.1471G>T" ], "proteinEffect": { "hgvs": "ENSP00000508257.1:p.Gly491Trp", "hgvsWellDefined": "ENSP00000508257.1:p.Gly491Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS828193" }, { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000683250.1:c.*179G>T" ], "proteinEffect": { "hgvs": "ENSP00000506847.1:n.*179G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828232" }, { "coordinates": [ { "allele": "T", "end": 3818, "referenceAllele": "G", "start": 3817 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000683418.1:n.3818G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828395" }, { "coordinates": [ { "allele": "T", "end": 1681, "referenceAllele": "G", "start": 1680 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000684153.1:c.1126G>T" ], "proteinEffect": { "hgvs": "ENSP00000506937.1:p.Gly376Trp", "hgvsWellDefined": "ENSP00000506937.1:p.Gly376Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS829111" }, { "coordinates": [ { "allele": "T", "end": 2490, "referenceAllele": "G", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000684516.1:n.2490G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829469" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "G", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000358487.10:c.1477G>T" ], "proteinEffect": { "hgvs": "ENSP00000351276.6:p.Gly493Trp", "hgvsWellDefined": "ENSP00000351276.6:p.Gly493Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS749076", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358487.10:c.1477G>T" }, "RefSeq": { "hgvs": "NM_000141.5:c.1477G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351276.6:p.Gly493Trp" }, "RefSeq": { "hgvs": "NP_000132.3:p.Gly493Trp" } } } }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "G", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000336553.10:c.1204G>T" ], "proteinEffect": { "hgvs": "ENSP00000337665.6:p.Gly402Trp", "hgvsWellDefined": "ENSP00000337665.6:p.Gly402Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS260321" }, { "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "G", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000346997.6:c.1471G>T" ], "proteinEffect": { "hgvs": "ENSP00000263451.5:p.Gly491Trp", "hgvsWellDefined": "ENSP00000263451.5:p.Gly491Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS262318" }, { "coordinates": [ { "allele": "T", "end": 1489, "referenceAllele": "G", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000351936.10:c.1477G>T" ], "proteinEffect": { "hgvs": "ENSP00000309878.9:p.Gly493Trp", "hgvsWellDefined": "ENSP00000309878.9:p.Gly493Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS262814" }, { "coordinates": [ { "allele": "T", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000356226.8:c.1126G>T" ], "proteinEffect": { "hgvs": "ENSP00000348559.4:p.Gly376Trp", "hgvsWellDefined": "ENSP00000348559.4:p.Gly376Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS263693" }, { "coordinates": [ { "allele": "T", "end": 1529, "referenceAllele": "G", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000357555.9:c.1210G>T" ], "proteinEffect": { "hgvs": "ENSP00000350166.5:p.Gly404Trp", "hgvsWellDefined": "ENSP00000350166.5:p.Gly404Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS264152" }, { "coordinates": [ { "allele": "T", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000358487.9:c.1477G>T" ], "proteinEffect": { "hgvs": "ENSP00000351276.5:p.Gly493Trp", "hgvsWellDefined": "ENSP00000351276.5:p.Gly493Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS264468" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "G", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000360144.7:c.1213G>T" ], "proteinEffect": { "hgvs": "ENSP00000353262.3:p.Gly405Trp", "hgvsWellDefined": "ENSP00000353262.3:p.Gly405Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS265030" }, { "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "G", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369056.5:c.1480G>T" ], "proteinEffect": { "hgvs": "ENSP00000358052.1:p.Gly494Trp", "hgvsWellDefined": "ENSP00000358052.1:p.Gly494Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS267337" }, { "coordinates": [ { "allele": "T", "end": 1903, "referenceAllele": "G", "start": 1902 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369058.7:c.1480G>T" ], "proteinEffect": { "hgvs": "ENSP00000358054.3:p.Gly494Trp", "hgvsWellDefined": "ENSP00000358054.3:p.Gly494Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS267338" }, { "coordinates": [ { "allele": "T", "end": 1776, "referenceAllele": "G", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369059.5:c.1135G>T" ], "proteinEffect": { "hgvs": "ENSP00000358055.1:p.Gly379Trp", "hgvsWellDefined": "ENSP00000358055.1:p.Gly379Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS267339" }, { "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "G", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369060.8:c.1129G>T" ], "proteinEffect": { "hgvs": "ENSP00000358056.4:p.Gly377Trp", "hgvsWellDefined": "ENSP00000358056.4:p.Gly377Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS267340" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "G", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000369061.8:c.1141G>T" ], "proteinEffect": { "hgvs": "ENSP00000358057.4:p.Gly381Trp", "hgvsWellDefined": "ENSP00000358057.4:p.Gly381Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS267341" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "G", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000429361.5:c.253G>T" ], "proteinEffect": { "hgvs": "ENSP00000404219.1:p.Gly85Trp", "hgvsWellDefined": "ENSP00000404219.1:p.Gly85Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS290628" }, { "coordinates": [ { "allele": "T", "end": 2072, "referenceAllele": "G", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000457416.6:c.1480G>T" ], "proteinEffect": { "hgvs": "ENSP00000410294.2:p.Gly494Trp", "hgvsWellDefined": "ENSP00000410294.2:p.Gly494Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS303943" }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000478859.5:c.793G>T" ], "proteinEffect": { "hgvs": "ENSP00000474011.1:p.Gly265Trp", "hgvsWellDefined": "ENSP00000474011.1:p.Gly265Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS319363" }, { "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "G", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000604236.5:c.*524G>T" ], "proteinEffect": { "hgvs": "ENSP00000474109.1:n.*524G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS398949" }, { "coordinates": [ { "allele": "T", "end": 1857, "referenceAllele": "G", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "ENST00000613048.4:c.1210G>T" ], "proteinEffect": { "hgvs": "ENSP00000484154.1:p.Gly404Trp", "hgvsWellDefined": "ENSP00000484154.1:p.Gly404Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS401574" }, { "@id": "http://reg.genome.network/allele/PA2825061144", "coordinates": [ { "allele": "T", "end": 2124, "referenceAllele": "G", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_000141.4:c.1477G>T" ], "proteinEffect": { "hgvs": "NP_000132.3:p.Gly493Trp", "hgvsWellDefined": "NP_000132.3:p.Gly493Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006203" }, { "@id": "http://reg.genome.network/allele/PA2825871383", "coordinates": [ { "allele": "T", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144913.1:c.1480G>T" ], "proteinEffect": { "hgvs": "NP_001138385.1:p.Gly494Trp", "hgvsWellDefined": "NP_001138385.1:p.Gly494Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS013351" }, { "@id": "http://reg.genome.network/allele/PA2825871677", "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "G", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144914.1:c.1141G>T" ], "proteinEffect": { "hgvs": "NP_001138386.1:p.Gly381Trp", "hgvsWellDefined": "NP_001138386.1:p.Gly381Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS013352" }, { "@id": "http://reg.genome.network/allele/PA2825872069", "coordinates": [ { "allele": "T", "end": 1529, "referenceAllele": "G", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144915.1:c.1210G>T" ], "proteinEffect": { "hgvs": "NP_001138387.1:p.Gly404Trp", "hgvsWellDefined": "NP_001138387.1:p.Gly404Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS013353" }, { "@id": "http://reg.genome.network/allele/PA2825872437", "coordinates": [ { "allele": "T", "end": 1573, "referenceAllele": "G", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144916.1:c.1132G>T" ], "proteinEffect": { "hgvs": "NP_001138388.1:p.Gly378Trp", "hgvsWellDefined": "NP_001138388.1:p.Gly378Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS013354" }, { "@id": "http://reg.genome.network/allele/PA2825872772", "coordinates": [ { "allele": "T", "end": 1776, "referenceAllele": "G", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144917.1:c.1129G>T" ], "proteinEffect": { "hgvs": "NP_001138389.1:p.Gly377Trp", "hgvsWellDefined": "NP_001138389.1:p.Gly377Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS013355" }, { "@id": "http://reg.genome.network/allele/PA2825873150", "coordinates": [ { "allele": "T", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144918.1:c.1126G>T" ], "proteinEffect": { "hgvs": "NP_001138390.1:p.Gly376Trp", "hgvsWellDefined": "NP_001138390.1:p.Gly376Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS013356" }, { "@id": "http://reg.genome.network/allele/PA2825873484", "coordinates": [ { "allele": "T", "end": 1860, "referenceAllele": "G", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144919.1:c.1213G>T" ], "proteinEffect": { "hgvs": "NP_001138391.1:p.Gly405Trp", "hgvsWellDefined": "NP_001138391.1:p.Gly405Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS013357" }, { "@id": "http://reg.genome.network/allele/PA658829390", "coordinates": [ { "allele": "T", "end": 2127, "referenceAllele": "G", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_022970.3:c.1480G>T" ], "proteinEffect": { "hgvs": "NP_075259.4:p.Gly494Trp", "hgvsWellDefined": "NP_075259.4:p.Gly494Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS037524" }, { "@id": "http://reg.genome.network/allele/PA2830008906", "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "G", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_023029.2:c.1210G>T" ], "proteinEffect": { "hgvs": "NP_075418.1:p.Gly404Trp", "hgvsWellDefined": "NP_075418.1:p.Gly404Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS037544" }, { "coordinates": [ { "allele": "T", "end": 1927, "referenceAllele": "G", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NR_073009.1:n.1927G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052421" }, { "coordinates": [ { "allele": "T", "end": 2319, "referenceAllele": "G", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717708.2:c.1531G>T" ], "proteinEffect": { "hgvs": "XP_006717771.1:p.Gly511Trp", "hgvsWellDefined": "XP_006717771.1:p.Gly511Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072285" }, { "coordinates": [ { "allele": "T", "end": 2316, "referenceAllele": "G", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717709.2:c.1528G>T" ], "proteinEffect": { "hgvs": "XP_006717772.1:p.Gly510Trp", "hgvsWellDefined": "XP_006717772.1:p.Gly510Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072286" }, { "coordinates": [ { "allele": "T", "end": 2325, "referenceAllele": "G", "start": 2324 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717710.2:c.1537G>T" ], "proteinEffect": { "hgvs": "XP_006717773.1:p.Gly513Trp", "hgvsWellDefined": "XP_006717773.1:p.Gly513Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072287" }, { "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "G", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717711.2:c.1270G>T" ], "proteinEffect": { "hgvs": "XP_006717774.1:p.Gly424Trp", "hgvsWellDefined": "XP_006717774.1:p.Gly424Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072288" }, { "coordinates": [ { "allele": "T", "end": 1285, "referenceAllele": "G", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717712.2:c.1192G>T" ], "proteinEffect": { "hgvs": "XP_006717775.1:p.Gly398Trp", "hgvsWellDefined": "XP_006717775.1:p.Gly398Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072289" }, { "coordinates": [ { "allele": "T", "end": 2322, "referenceAllele": "G", "start": 2321 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717713.2:c.1534G>T" ], "proteinEffect": { "hgvs": "XP_006717776.1:p.Gly512Trp", "hgvsWellDefined": "XP_006717776.1:p.Gly512Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS072290" }, { "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "G", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_011539510.1:c.793G>T" ], "proteinEffect": { "hgvs": "XP_011537812.1:p.Gly265Trp", "hgvsWellDefined": "XP_011537812.1:p.Gly265Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS106460" }, { "@id": "http://reg.genome.network/allele/PA2827050794", "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320654.1:c.793G>T" ], "proteinEffect": { "hgvs": "NP_001307583.1:p.Gly265Trp", "hgvsWellDefined": "NP_001307583.1:p.Gly265Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS513707" }, { "@id": "http://reg.genome.network/allele/PA2827051220", "coordinates": [ { "allele": "T", "end": 2118, "referenceAllele": "G", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320658.1:c.1471G>T" ], "proteinEffect": { "hgvs": "NP_001307587.1:p.Gly491Trp", "hgvsWellDefined": "NP_001307587.1:p.Gly491Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS513711" }, { "coordinates": [ { "allele": "T", "end": 1749, "referenceAllele": "G", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717708.3:c.1531G>T" ], "proteinEffect": { "hgvs": "XP_006717771.1:p.Gly511Trp", "hgvsWellDefined": "XP_006717771.1:p.Gly511Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS539461" }, { "coordinates": [ { "allele": "T", "end": 1755, "referenceAllele": "G", "start": 1754 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_006717710.4:c.1537G>T" ], "proteinEffect": { "hgvs": "XP_006717773.1:p.Gly513Trp", "hgvsWellDefined": "XP_006717773.1:p.Gly513Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS539462" }, { "coordinates": [ { "allele": "T", "end": 1749, "referenceAllele": "G", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015920.2:c.1531G>T" ], "proteinEffect": { "hgvs": "XP_016871409.1:p.Gly511Trp", "hgvsWellDefined": "XP_016871409.1:p.Gly511Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS568504" }, { "coordinates": [ { "allele": "T", "end": 1746, "referenceAllele": "G", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015921.2:c.1528G>T" ], "proteinEffect": { "hgvs": "XP_016871410.1:p.Gly510Trp", "hgvsWellDefined": "XP_016871410.1:p.Gly510Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS568505" }, { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "G", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015924.2:c.1189G>T" ], "proteinEffect": { "hgvs": "XP_016871413.1:p.Gly397Trp", "hgvsWellDefined": "XP_016871413.1:p.Gly397Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS568506" }, { "coordinates": [ { "allele": "T", "end": 1646, "referenceAllele": "G", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_017015925.2:c.1183G>T" ], "proteinEffect": { "hgvs": "XP_016871414.1:p.Gly395Trp", "hgvsWellDefined": "XP_016871414.1:p.Gly395Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS568507" }, { "coordinates": [ { "allele": "T", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447887.1:c.1267G>T" ], "proteinEffect": { "hgvs": "XP_024303655.1:p.Gly423Trp", "hgvsWellDefined": "XP_024303655.1:p.Gly423Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS581468" }, { "coordinates": [ { "allele": "T", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447888.1:c.1264G>T" ], "proteinEffect": { "hgvs": "XP_024303656.1:p.Gly422Trp", "hgvsWellDefined": "XP_024303656.1:p.Gly422Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS581469" }, { "coordinates": [ { "allele": "T", "end": 1444, "referenceAllele": "G", "start": 1443 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447889.1:c.1261G>T" ], "proteinEffect": { "hgvs": "XP_024303657.1:p.Gly421Trp", "hgvsWellDefined": "XP_024303657.1:p.Gly421Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS581470" }, { "coordinates": [ { "allele": "T", "end": 1860, "referenceAllele": "G", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447890.1:c.1270G>T" ], "proteinEffect": { "hgvs": "XP_024303658.1:p.Gly424Trp", "hgvsWellDefined": "XP_024303658.1:p.Gly424Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS581471" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447891.1:c.1192G>T" ], "proteinEffect": { "hgvs": "XP_024303659.1:p.Gly398Trp", "hgvsWellDefined": "XP_024303659.1:p.Gly398Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS581472" }, { "coordinates": [ { "allele": "T", "end": 3487, "referenceAllele": "G", "start": 3486 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "XM_024447892.1:c.307G>T" ], "proteinEffect": { "hgvs": "XP_024303660.1:p.Gly103Trp", "hgvsWellDefined": "XP_024303660.1:p.Gly103Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS581473" }, { "@id": "http://reg.genome.network/allele/PA2825061144", "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "G", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_000141.5:c.1477G>T" ], "proteinEffect": { "hgvs": "NP_000132.3:p.Gly493Trp", "hgvsWellDefined": "NP_000132.3:p.Gly493Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS674724", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358487.10:c.1477G>T" }, "RefSeq": { "hgvs": "NM_000141.5:c.1477G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351276.6:p.Gly493Trp" }, "RefSeq": { "hgvs": "NP_000132.3:p.Gly493Trp" } } } }, { "@id": "http://reg.genome.network/allele/PA2825872772", "coordinates": [ { "allele": "T", "end": 1762, "referenceAllele": "G", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144917.2:c.1129G>T" ], "proteinEffect": { "hgvs": "NP_001138389.1:p.Gly377Trp", "hgvsWellDefined": "NP_001138389.1:p.Gly377Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS677757" }, { "@id": "http://reg.genome.network/allele/PA2825873150", "coordinates": [ { "allele": "T", "end": 1759, "referenceAllele": "G", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144918.2:c.1126G>T" ], "proteinEffect": { "hgvs": "NP_001138390.1:p.Gly376Trp", "hgvsWellDefined": "NP_001138390.1:p.Gly376Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS677758" }, { "@id": "http://reg.genome.network/allele/PA2825873484", "coordinates": [ { "allele": "T", "end": 1846, "referenceAllele": "G", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144919.2:c.1213G>T" ], "proteinEffect": { "hgvs": "NP_001138391.1:p.Gly405Trp", "hgvsWellDefined": "NP_001138391.1:p.Gly405Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS677759" }, { "@id": "http://reg.genome.network/allele/PA2827051220", "coordinates": [ { "allele": "T", "end": 2104, "referenceAllele": "G", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320658.2:c.1471G>T" ], "proteinEffect": { "hgvs": "NP_001307587.1:p.Gly491Trp", "hgvsWellDefined": "NP_001307587.1:p.Gly491Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS684993" }, { "coordinates": [ { "allele": "T", "end": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NR_073009.2:n.1913G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702637" }, { "@id": "http://reg.genome.network/allele/PA2825872069", "coordinates": [ { "allele": "T", "end": 1529, "referenceAllele": "G", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144915.2:c.1210G>T" ], "proteinEffect": { "hgvs": "NP_001138387.1:p.Gly404Trp", "hgvsWellDefined": "NP_001138387.1:p.Gly404Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS712725" }, { "@id": "http://reg.genome.network/allele/PA2825872437", "coordinates": [ { "allele": "T", "end": 1573, "referenceAllele": "G", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144916.2:c.1132G>T" ], "proteinEffect": { "hgvs": "NP_001138388.1:p.Gly378Trp", "hgvsWellDefined": "NP_001138388.1:p.Gly378Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS712726" }, { "@id": "http://reg.genome.network/allele/PA2827050794", "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320654.2:c.793G>T" ], "proteinEffect": { "hgvs": "NP_001307583.1:p.Gly265Trp", "hgvsWellDefined": "NP_001307583.1:p.Gly265Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS717810" } ], "type": "nucleotide" }