{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16620692", "communityStandardTitle": [ "NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410372[alleleid]", "alleleId": 410372, "preferredName": "NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419441", "RCV": [ "RCV000480930", "RCV001789776" ], "variationId": 419441 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.45395659C>A?assembly=hg19", "id": "chr18:g.45395659C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.47869288C>A?assembly=hg38", "id": "chr18:g.47869288C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793873", "rs": 1064793873 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 47869288, "referenceAllele": "C", "start": 47869287 } ], "hgvs": [ "NC_000018.10:g.47869288C>A", "CM000680.2:g.47869288C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 45395659, "referenceAllele": "C", "start": 45395658 } ], "hgvs": [ "NC_000018.9:g.45395659C>A", "CM000680.1:g.45395659C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 43649657, "referenceAllele": "C", "start": 43649656 } ], "hgvs": [ "NC_000018.8:g.43649657C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "T", "end": 66857, "referenceAllele": "G", "start": 66856 } ], "hgvs": [ "NG_029946.1:g.66857G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004801" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "ENST00000262160.11:c.475G>T" ], "proteinEffect": { "hgvs": "ENSP00000262160.6:p.Glu159Ter", "hgvsWellDefined": "ENSP00000262160.6:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742288", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262160.11:c.475G>T" }, "RefSeq": { "hgvs": "NM_005901.6:c.475G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262160.6:p.Glu159Ter" }, "RefSeq": { "hgvs": "NP_005892.1:p.Glu159Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "ENST00000262160.10:c.475G>T" ], "proteinEffect": { "hgvs": "ENSP00000262160.6:p.Glu159Ter", "hgvsWellDefined": "ENSP00000262160.6:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250946" }, { "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "G", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "ENST00000356825.8:c.385G>T" ], "proteinEffect": { "hgvs": "ENSP00000349282.4:p.Glu129Ter", "hgvsWellDefined": "ENSP00000349282.4:p.Glu129_Ser437delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263888" }, { "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "ENST00000402690.6:c.475G>T" ], "proteinEffect": { "hgvs": "ENSP00000384449.1:p.Glu159Ter", "hgvsWellDefined": "ENSP00000384449.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279594" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "ENST00000586040.5:c.385G>T" ], "proteinEffect": { "hgvs": "ENSP00000466193.1:p.Glu129Ter", "hgvsWellDefined": "ENSP00000466193.1:p.Glu129_Ser437delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS389120" }, { "coordinates": [ { "allele": "T", "end": 652, "referenceAllele": "G", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "ENST00000586514.5:c.475G>T" ], "proteinEffect": { "hgvs": "ENSP00000465355.1:p.Glu159Ter", "hgvsWellDefined": "ENSP00000465355.1:p.Glu159_Ile217del" }, "referenceSequence": "http://reg.genome.network/refseq/RS389439" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "ENST00000587269.5:c.475G>T" ], "proteinEffect": { "hgvs": "ENSP00000466254.1:p.Glu159Ter", "hgvsWellDefined": "ENSP00000466254.1:p.Glu159Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS389957" }, { "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "G", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "ENST00000587353.5:n.344G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390016" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "ENST00000591214.5:c.385G>T" ], "proteinEffect": { "hgvs": "ENSP00000467075.1:p.Glu129Ter", "hgvsWellDefined": "ENSP00000467075.1:p.Glu129_Leu431delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgTyrGluIleHisIleTrpPheLeuAsnPheHisSerValIleMetPheHisCysIleLeuAlaTyrSerGlyValHisLeuTyrLeuPheSerMetArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392721" }, { "@id": "http://reg.genome.network/allele/PA2825254744", "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "G", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "NM_001003652.3:c.475G>T" ], "proteinEffect": { "hgvs": "NP_001003652.1:p.Glu159Ter", "hgvsWellDefined": "NP_001003652.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007316" }, { "@id": "http://reg.genome.network/allele/PA2825804068", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "G", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "NM_001135937.2:c.385G>T" ], "proteinEffect": { "hgvs": "NP_001129409.1:p.Glu129Ter", "hgvsWellDefined": "NP_001129409.1:p.Glu129_Ser437delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012532" }, { "@id": "http://reg.genome.network/allele/PA645479325", "coordinates": [ { "allele": "T", "end": 767, "referenceAllele": "G", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "NM_005901.5:c.475G>T" ], "proteinEffect": { "hgvs": "NP_005892.1:p.Glu159Ter", "hgvsWellDefined": "NP_005892.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030957" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "G", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_005258259.2:c.475G>T" ], "proteinEffect": { "hgvs": "XP_005258316.1:p.Glu159Ter", "hgvsWellDefined": "XP_005258316.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062016" }, { "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "G", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_006722451.2:c.475G>T" ], "proteinEffect": { "hgvs": "XP_006722514.1:p.Glu159Ter", "hgvsWellDefined": "XP_006722514.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074578" }, { "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "G", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_011525983.1:c.385G>T" ], "proteinEffect": { "hgvs": "XP_011524285.1:p.Glu129Ter", "hgvsWellDefined": "XP_011524285.1:p.Glu129_Ser437delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093091" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_011525984.1:c.349G>T" ], "proteinEffect": { "hgvs": "XP_011524286.1:p.Glu117Ter", "hgvsWellDefined": "XP_011524286.1:p.Glu117_Ser425delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093092" }, { "coordinates": [ { "allele": "T", "end": 1067, "referenceAllele": "G", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_011525985.1:c.316G>T" ], "proteinEffect": { "hgvs": "XP_011524287.1:p.Glu106Ter", "hgvsWellDefined": "XP_011524287.1:p.Glu106_Ser414delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093093" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "G", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_005258259.4:c.475G>T" ], "proteinEffect": { "hgvs": "XP_005258316.1:p.Glu159Ter", "hgvsWellDefined": "XP_005258316.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534808" }, { "coordinates": [ { "allele": "T", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_006722451.4:c.475G>T" ], "proteinEffect": { "hgvs": "XP_006722514.1:p.Glu159Ter", "hgvsWellDefined": "XP_006722514.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540546" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_011525984.2:c.349G>T" ], "proteinEffect": { "hgvs": "XP_011524286.1:p.Glu117Ter", "hgvsWellDefined": "XP_011524286.1:p.Glu117_Ser425delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548092" }, { "coordinates": [ { "allele": "T", "end": 1062, "referenceAllele": "G", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_011525985.3:c.316G>T" ], "proteinEffect": { "hgvs": "XP_011524287.1:p.Glu106Ter", "hgvsWellDefined": "XP_011524287.1:p.Glu106_Ser414delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548093" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "G", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_017025745.2:c.475G>T" ], "proteinEffect": { "hgvs": "XP_016881234.1:p.Glu159Ter", "hgvsWellDefined": "XP_016881234.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576039" }, { "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "G", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_017025746.2:c.385G>T" ], "proteinEffect": { "hgvs": "XP_016881235.1:p.Glu129Ter", "hgvsWellDefined": "XP_016881235.1:p.Glu129_Ser437delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576040" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "G", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_017025747.2:c.328G>T" ], "proteinEffect": { "hgvs": "XP_016881236.1:p.Glu110Ter", "hgvsWellDefined": "XP_016881236.1:p.Glu110_Ser418delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576041" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "G", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_017025748.2:c.316G>T" ], "proteinEffect": { "hgvs": "XP_016881237.1:p.Glu106Ter", "hgvsWellDefined": "XP_016881237.1:p.Glu106_Ser414delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576042" }, { "coordinates": [ { "allele": "T", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_017025749.1:c.475G>T" ], "proteinEffect": { "hgvs": "XP_016881238.1:p.Glu159Ter", "hgvsWellDefined": "XP_016881238.1:p.Glu159_Leu263delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrAspAspThrLeuLeuGluAlaIleIlePhePhePheAlaCysAspGlyGlnLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576043" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "G", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_017025750.2:c.-292G>T" ], "proteinEffect": { "hgvs": "XP_016881239.1:n.-292G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS576044" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "G", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "XM_024451173.1:c.475G>T" ], "proteinEffect": { "hgvs": "XP_024306941.1:p.Glu159Ter", "hgvsWellDefined": "XP_024306941.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584693" }, { "@id": "http://reg.genome.network/allele/PA2825254744", "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "G", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "NM_001003652.4:c.475G>T" ], "proteinEffect": { "hgvs": "NP_001003652.1:p.Glu159Ter", "hgvsWellDefined": "NP_001003652.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675098" }, { "@id": "http://reg.genome.network/allele/PA645479325", "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "NM_005901.6:c.475G>T" ], "proteinEffect": { "hgvs": "NP_005892.1:p.Glu159Ter", "hgvsWellDefined": "NP_005892.1:p.Glu159_Ser467delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696555", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262160.11:c.475G>T" }, "RefSeq": { "hgvs": "NM_005901.6:c.475G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262160.6:p.Glu159Ter" }, "RefSeq": { "hgvs": "NP_005892.1:p.Glu159Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825804068", "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN006768", "geneNCBI_id": 4087, "geneSymbol": "SMAD2", "hgvs": [ "NM_001135937.3:c.385G>T" ], "proteinEffect": { "hgvs": "NP_001129409.1:p.Glu129Ter", "hgvsWellDefined": "NP_001129409.1:p.Glu129_Ser437delinsValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleLeuThrGluLeuProProLeuAspAspTyrThrHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnTyrIleProGluThrProProProGlyTyrIleSerGluAspGlyGluThrSerAspGlnGlnLeuAsnGlnSerMetAspThrGlySerProAlaGluLeuSerProThrThrLeuSerProValAsnHisSerLeuAspLeuGlnProValThrTyrSerGluProAlaPheTrpCysSerIleAlaTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerLeuThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaThrValGluMetThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerValArgCysSerSerMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712469" } ], "type": "nucleotide" }