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} ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_000141.5:c.1717C>T" ], "proteinEffect": { "hgvs": "NP_000132.3:p.Arg573Ter", "hgvsWellDefined": "NP_000132.3:p.Arg573_Thr821delinsGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674724", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358487.10:c.1717C>T" }, "RefSeq": { "hgvs": "NM_000141.5:c.1717C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351276.6:p.Arg573Ter" }, "RefSeq": { "hgvs": "NP_000132.3:p.Arg573Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825872816", "coordinates": [ { "allele": "T", "end": 2002, "referenceAllele": "C", "start": 2001 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144917.2:c.1369C>T" ], "proteinEffect": { "hgvs": "NP_001138389.1:p.Arg457Ter", "hgvsWellDefined": 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} ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144918.2:c.1366C>T" ], "proteinEffect": { "hgvs": "NP_001138390.1:p.Arg456Ter", "hgvsWellDefined": "NP_001138390.1:p.Arg456_Thr704delinsGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677758" }, { "@id": "http://reg.genome.network/allele/PA2825873528", "coordinates": [ { "allele": "T", "end": 2086, "referenceAllele": "C", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144919.2:c.1453C>T" ], "proteinEffect": { "hgvs": "NP_001138391.1:p.Arg485Ter", "hgvsWellDefined": "NP_001138391.1:p.Arg485_Ile680delinsGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677759" }, { "@id": "http://reg.genome.network/allele/PA2827051264", "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "C", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320658.2:c.1711C>T" ], "proteinEffect": { "hgvs": "NP_001307587.1:p.Arg571Ter", "hgvsWellDefined": "NP_001307587.1:p.Arg571_Thr819delinsGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684993" }, { "coordinates": [ { "allele": "T", "end": 2153, "referenceAllele": "C", "start": 2152 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NR_073009.2:n.2153C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702637" }, { "@id": "http://reg.genome.network/allele/PA2825872113", "coordinates": [ { "allele": "T", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144915.2:c.1450C>T" ], "proteinEffect": { "hgvs": "NP_001138387.1:p.Arg484Ter", "hgvsWellDefined": "NP_001138387.1:p.Arg484_Gln707delinsGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluGluLysLysValSerGlyAlaValAspCysHisLysProProCysAsnProSerHisLeuProCysValLeuAlaValAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712725" }, { "@id": "http://reg.genome.network/allele/PA2825872480", "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001144916.2:c.1372C>T" ], "proteinEffect": { "hgvs": "NP_001138388.1:p.Arg458Ter", "hgvsWellDefined": "NP_001138388.1:p.Arg458_Thr706delinsGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712726" }, { "@id": "http://reg.genome.network/allele/PA2827050838", "coordinates": [ { "allele": "T", "end": 1748, "referenceAllele": "C", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN003689", "geneNCBI_id": 2263, "geneSymbol": "FGFR2", "hgvs": [ "NM_001320654.2:c.1033C>T" ], "proteinEffect": { "hgvs": "NP_001307583.1:p.Arg345Ter", "hgvsWellDefined": "NP_001307583.1:p.Arg345_Thr593delinsGluTyrLeuArgAlaArgArgProProGlyMetGluTyrSerTyrAspIleAsnArgValProGluGluGlnMetThrPheLysAspLeuValSerCysThrTyrGlnLeuAlaArgGlyMetGluTyrLeuAlaSerGlnLysCysIleHisArgAspLeuAlaAlaArgAsnValLeuValThrGluAsnAsnValMetLysIleAlaAspPheGlyLeuAlaArgAspIleAsnAsnIleAspTyrTyrLysLysThrThrAsnGlyArgLeuProValLysTrpMetAlaProGluAlaLeuPheAspArgValTyrThrHisGlnSerAspValTrpSerPheGlyValLeuMetTrpGluIlePheThrLeuGlyGlySerProTyrProGlyIleProValGluGluLeuPheLysLeuLeuLysGluGlyHisArgMetAspLysProAlaAsnCysThrAsnGluLeuTyrMetMetMetArgAspCysTrpHisAlaValProSerGlnArgProThrPheLysGlnLeuValGluAspLeuAspArgIleLeuThrLeuThrThrAsnGluGluTyrLeuAspLeuSerGlnProLeuGluGlnTyrSerProSerTyrProAspThrArgSerSerCysSerSerGlyAspAspSerValPheSerProAspProMetProTyrGluProCysLeuProGlnTyrProHisIleAsnGlySerValLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717810" } ], "type": "nucleotide" }