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"http://reg.genome.network/refseq/RS059563" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_005251479.3:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_005251536.1:p.Arg415Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS059564" }, { "coordinates": [ { "allele": "T", "end": 2946, "referenceAllele": "C", "start": 2945 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_006716778.2:c.2158C>T" ], "proteinEffect": { "hgvs": "XP_006716841.1:p.Arg720Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS085071" }, { "coordinates": [ { "allele": "T", "end": 6722, "referenceAllele": "C", "start": 6721 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_011517890.1:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_011516192.1:p.Arg415Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS085072" }, { "coordinates": [ { "allele": "T", "end": 6631, "referenceAllele": "C", "start": 6630 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_011517891.1:c.1243C>T" ], "proteinEffect": { "hgvs": "XP_011516193.1:p.Arg415Ter", "hgvsWellDefined": 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"XP_011516197.1:p.Arg276_Leu582delinsAsnGlyGlnArgProTyrPheArgProSerIleAspArgThrGlnLeuAsnGluGluLeuValLeuLeuMetGluArgCysTrpAlaGlnAspProAlaGluArgProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThrCysPheAspAlaIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGlyGlnArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeuAspAlaValSerSerPheArgIleArgHisArgProHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085077" }, { "coordinates": [ { "allele": "T", "end": 3179, "referenceAllele": "C", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_024447556.1:c.2389C>T" ], "proteinEffect": { "hgvs": "XP_024303324.1:p.Arg797Ter", "hgvsWellDefined": "XP_024303324.1:p.Arg797_Leu1103delinsAsnGlyGlnArgProTyrPheArgProSerIleAspArgThrGlnLeuAsnGluGluLeuValLeuLeuMetGluArgCysTrpAlaGlnAspProAlaGluArgProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThrCysPheAspAlaIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGlyGlnArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeuAspAlaValSerSerPheArgIleArgHisArgProHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581138" }, { "coordinates": [ { "allele": "T", "end": 3169, "referenceAllele": "C", "start": 3168 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_024447557.1:c.2380C>T" ], "proteinEffect": { "hgvs": "XP_024303325.1:p.Arg794Ter", "hgvsWellDefined": "XP_024303325.1:p.Arg794_Leu1100delinsAsnGlyGlnArgProTyrPheArgProSerIleAspArgThrGlnLeuAsnGluGluLeuValLeuLeuMetGluArgCysTrpAlaGlnAspProAlaGluArgProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThrCysPheAspAlaIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGlyGlnArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeuAspAlaValSerSerPheArgIleArgHisArgProHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581139" }, { "coordinates": [ { "allele": "T", "end": 2717, "referenceAllele": "C", "start": 2716 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_024447558.1:c.1402C>T" ], "proteinEffect": { "hgvs": "XP_024303326.1:p.Arg468Ter", "hgvsWellDefined": "XP_024303326.1:p.Arg468_Leu774delinsAsnGlyGlnArgProTyrPheArgProSerIleAspArgThrGlnLeuAsnGluGluLeuValLeuLeuMetGluArgCysTrpAlaGlnAspProAlaGluArgProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThrCysPheAspAlaIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGlyGlnArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeuAspAlaValSerSerPheArgIleArgHisArgProHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581140" }, { "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_024447559.1:c.985C>T" ], "proteinEffect": { "hgvs": "XP_024303327.1:p.Arg329Ter", "hgvsWellDefined": "XP_024303327.1:p.Arg329_Leu635delinsAsnGlyGlnArgProTyrPheArgProSerIleAspArgThrGlnLeuAsnGluGluLeuValLeuLeuMetGluArgCysTrpAlaGlnAspProAlaGluArgProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThrCysPheAspAlaIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGlyGlnArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeuAspAlaValSerSerPheArgIleArgHisArgProHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581141" }, { "coordinates": [ { "allele": "T", "end": 1349, "referenceAllele": "C", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_024447560.1:c.976C>T" ], "proteinEffect": { "hgvs": "XP_024303328.1:p.Arg326Ter", "hgvsWellDefined": "XP_024303328.1:p.Arg326_Leu632delinsAsnGlyGlnArgProTyrPheArgProSerIleAspArgThrGlnLeuAsnGluGluLeuValLeuLeuMetGluArgCysTrpAlaGlnAspProAlaGluArgProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThrCysPheAspAlaIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGlyGlnArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeuAspAlaValSerSerPheArgIleArgHisArgProHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581142" }, { "coordinates": [ { "allele": "T", "end": 1848, "referenceAllele": "C", "start": 1847 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "XM_024447561.1:c.817C>T" ], "proteinEffect": { "hgvs": "XP_024303329.1:p.Arg273Ter", "hgvsWellDefined": "XP_024303329.1:p.Arg273_Leu579delinsAsnGlyGlnArgProTyrPheArgProSerIleAspArgThrGlnLeuAsnGluGluLeuValLeuLeuMetGluArgCysTrpAlaGlnAspProAlaGluArgProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThrCysPheAspAlaIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGlyGlnArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeuAspAlaValSerSerPheArgIleArgHisArgProHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581143" }, { "@id": "http://reg.genome.network/allele/PA2829481028", "coordinates": [ { "allele": "T", "end": 3039, "referenceAllele": "C", "start": 3038 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "NM_003995.4:c.2221C>T" ], "proteinEffect": { "hgvs": "NP_003986.2:p.Arg741Ter", "hgvsWellDefined": "NP_003986.2:p.Arg741_Leu1047delinsAsnGlyGlnArgProTyrPheArgProSerIleAspArgThrGlnLeuAsnGluGluLeuValLeuLeuMetGluArgCysTrpAlaGlnAspProAlaGluArgProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThrCysPheAspAlaIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGlyGlnArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeuAspAlaValSerSerPheArgIleArgHisArgProHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696012", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342694.7:c.2221C>T" }, "RefSeq": { "hgvs": "NM_003995.4:c.2221C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341083.2:p.Arg741Ter" }, "RefSeq": { "hgvs": "NP_003986.2:p.Arg741Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573213217", "coordinates": [ { "allele": "T", "end": 3048, "referenceAllele": "C", "start": 3047 } ], "gene": "http://reg.genome.network/gene/GN007944", "geneNCBI_id": 4882, "geneSymbol": "NPR2", "hgvs": [ "NM_001378923.1:c.2230C>T" ], "proteinEffect": { "hgvs": "NP_001365852.1:p.Arg744Ter", "hgvsWellDefined": "NP_001365852.1:p.Arg744_Leu1050delinsAsnGlyGlnArgProTyrPheArgProSerIleAspArgThrGlnLeuAsnGluGluLeuValLeuLeuMetGluArgCysTrpAlaGlnAspProAlaGluArgProAspPheGlyGlnIleLysGlyPheIleArgArgPheAsnLysGluGlyGlyThrSerIleLeuAspAsnLeuLeuLeuArgMetGluGlnTyrAlaAsnAsnLeuGluLysLeuValGluGluArgThrGlnAlaTyrLeuGluGluLysArgLysAlaGluAlaLeuLeuTyrGlnIleLeuProHisSerValAlaGluGlnLeuLysArgGlyGluThrValGlnAlaGluAlaPheAspSerValThrIleTyrPheSerAspIleValGlyPheThrAlaLeuSerAlaGluSerThrProMetGlnValValThrLeuLeuAsnAspLeuTyrThrCysPheAspAlaIleIleAspAsnPheAspValTyrLysValGluThrIleGlyAspAlaTyrMetValValSerGlyLeuProGlyArgAsnGlyGlnArgHisAlaProGluIleAlaArgMetAlaLeuAlaLeuLeuAspAlaValSerSerPheArgIleArgHisArgProHisAspGlnLeuArgLeuArgIleGlyValHisThrGlyProValCysAlaGlyValValGlyLeuLysMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerAsnGlyGlnAlaLeuLysIleHisValSerSerThrThrLysAspAlaLeuAspGluLeuGlyCysPheGlnLeuGluLeuArgGlyAspValGluMetLysGlyLysGlyLysMetArgThrTyrTrpLeuLeuGlyGluArgLysGlyProProGlyLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721859" } ], "type": "nucleotide" }