{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA017519", "communityStandardTitle": [ "NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=26100", "active": true, "id": "COSM26100" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16794[alleleid]", "alleleId": 16794, "preferredName": "NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1755", "RCV": [ "RCV000001825", "RCV000030238", "RCV000162489", "RCV000202291", "RCV000524334", "RCV000677885", "RCV000763491", "RCV003162204" ], "variationId": 1755 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47657020C>T?assembly=hg19", "id": "chr2:g.47657020C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47429881C>T?assembly=hg38", "id": "chr2:g.47429881C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63751108", "rs": 63751108 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47429881-C-T?dataset=gnomad_r4", "id": "2-47429881-C-T", "variant": "2:47429881 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47429881, "referenceAllele": "C", "start": 47429880 } ], "hgvs": [ "NC_000002.12:g.47429881C>T", "CM000664.2:g.47429881C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47657020, "referenceAllele": "C", "start": 47657019 } ], "hgvs": [ "NC_000002.11:g.47657020C>T", "CM000664.1:g.47657020C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47510524, "referenceAllele": "C", "start": 47510523 } ], "hgvs": [ "NC_000002.10:g.47510524C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 31758, "referenceAllele": "C", "start": 31757 } ], "hgvs": [ "NG_007110.2:g.31758C>T", "LRG_218:g.31758C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000486" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "C", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644900.2:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000495641.2:p.Arg406Ter", "hgvsWellDefined": "ENSP00000495641.2:p.Arg406_Met883delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluValValThrIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914416" }, { "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "C", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.7:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Arg406Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Arg406_Thr934delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.1216C>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.1216C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Arg406Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Arg406Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.6:c.1018C>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:p.Arg340Ter", "hgvsWellDefined": "ENSP00000442697.1:p.Arg340_Thr868delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759735" }, { "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644092.1:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000496351.1:p.Arg406Ter", "hgvsWellDefined": "ENSP00000496351.1:p.Arg406_Lys558delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnArgValTyrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767627" }, { "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645339.1:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000496441.1:p.Arg406Ter", "hgvsWellDefined": "ENSP00000496441.1:p.Arg406_Gly918delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768299" }, { "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645506.1:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000495455.1:p.Arg406Ter", "hgvsWellDefined": "ENSP00000495455.1:p.Arg406_Ala924delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768389" }, { "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000646415.1:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000495543.1:p.Arg406Ter", "hgvsWellDefined": "ENSP00000495543.1:p.Arg406_His938delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAspProThrProThrArgAsnThrGlnProLeuThrGlnSerTrpAlaCysValGlySerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768860" }, { "coordinates": [ { "allele": "T", "end": 1439, "referenceAllele": "C", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.6:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Arg406Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Arg406_Thr934delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247203" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000406134.5:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000384199.1:p.Arg406Ter", "hgvsWellDefined": "ENSP00000384199.1:p.Arg406_Ser921delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGluLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247307" }, { "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.5:c.1018C>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:p.Arg340Ter", "hgvsWellDefined": "ENSP00000442697.1:p.Arg340_Thr868delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247173" }, { "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "C", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000610696.4:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000483159.1:p.Arg406Ter", "hgvsWellDefined": "ENSP00000483159.1:p.Arg406_Ser533delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluLysSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400534" }, { "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "C", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000613514.4:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000484137.1:p.Arg406Ter", "hgvsWellDefined": "ENSP00000484137.1:p.Arg406_Glu485delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgAsnAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401778" }, { "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617333.3:c.1215C>T" ], "proteinEffect": { "hgvs": "ENSP00000482468.1:p.Thr405=" }, "referenceSequence": "http://reg.genome.network/refseq/RS403437" }, { "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617938.4:c.*188C>T" ], "proteinEffect": { "hgvs": "ENSP00000481158.1:n.*188C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS403700" }, { "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "C", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000621359.2:c.1216C>T" ], "proteinEffect": { "hgvs": "ENSP00000481416.1:p.Arg406Ter", "hgvsWellDefined": "ENSP00000481416.1:p.Arg406_Pro810delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrIlePheMetAsnLeuLeuProTrpProIleArgTyrGlnLeuLeuIleIleTyrMetSerGlnHisSerProLeuLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405232" }, { "@id": "http://reg.genome.network/allele/PA186362", "coordinates": [ { "allele": "T", "end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.2:c.1216C>T", "LRG_218t1:c.1216C>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Arg406Ter", "hgvsWellDefined": "NP_000242.1:p.Arg406_Thr934delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006313" }, { "@id": "http://reg.genome.network/allele/PA2826463931", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_001258281.1:c.1018C>T" ], "proteinEffect": { "hgvs": "NP_001245210.1:p.Arg340Ter", "hgvsWellDefined": "NP_001245210.1:p.Arg340_Thr868delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019766" }, { "coordinates": [ { "allele": "T", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.2:c.1216C>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Arg406Ter", "hgvsWellDefined": "XP_005264389.2:p.Arg406_Gly974delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064175" }, { "coordinates": [ { "allele": "T", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.1:c.1216C>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Arg406Ter", "hgvsWellDefined": "XP_011531169.1:p.Arg406_Ala924delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099893" }, { "coordinates": [ { "allele": "T", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.1:n.1288C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134381" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.4:c.1216C>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Arg406Ter", "hgvsWellDefined": "XP_005264389.2:p.Arg406_Gly974delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535844" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.2:c.1216C>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Arg406Ter", "hgvsWellDefined": "XP_011531169.1:p.Arg406_Ala924delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551004" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_001738747.2:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589206" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.2:n.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612357" }, { "@id": "http://reg.genome.network/allele/PA186362", "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "C", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.3:c.1216C>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Arg406Ter", "hgvsWellDefined": "NP_000242.1:p.Arg406_Thr934delinsLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674763", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.1216C>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.1216C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Arg406Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Arg406Ter" } } } } ], "type": "nucleotide" }