{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA017923", "communityStandardTitle": [ "NM_000251.3(MSH2):c.129T>G (p.Tyr43Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96096[alleleid]", "alleleId": 96096, "preferredName": "NM_000251.3(MSH2):c.129T>G (p.Tyr43Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90621", "RCV": [ "RCV000076117" ], "variationId": 90621 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47630459T>G?assembly=hg19", "id": "chr2:g.47630459T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47403320T>G?assembly=hg38", "id": "chr2:g.47403320T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750894", "rs": 63750894 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 47403320, "referenceAllele": "T", "start": 47403319 } ], "hgvs": [ "NC_000002.12:g.47403320T>G", "CM000664.2:g.47403320T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 47630459, "referenceAllele": "T", "start": 47630458 } ], "hgvs": [ "NC_000002.11:g.47630459T>G", "CM000664.1:g.47630459T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 47483963, "referenceAllele": "T", "start": 47483962 } ], "hgvs": [ "NC_000002.10:g.47483963T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 5197, "referenceAllele": "T", "start": 5196 } ], "hgvs": [ "NG_007110.2:g.5197T>G", "LRG_218:g.5197T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000486" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 165, "referenceAllele": "T", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644900.2:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000495641.2:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000495641.2:p.Tyr43_Met883delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluValValThrIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914416" }, { "coordinates": [ { "allele": "G", "end": 165, "referenceAllele": "T", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.7:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Tyr43_Thr934delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.129T>G" }, "RefSeq": { "hgvs": "NM_000251.3:c.129T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Tyr43Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Tyr43Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 109, "endIntronDirection": "-", "endIntronOffset": 39, "referenceAllele": "T", "start": 109, "startIntronDirection": "-", "startIntronOffset": 40 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.6:c.-30-40T>G" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:n.-30-40T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS759735" }, { "coordinates": [ { "allele": "G", "end": 202, "referenceAllele": "T", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644092.1:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000496351.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000496351.1:p.Tyr43_Lys558delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnArgValTyrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767627" }, { "coordinates": [ { "allele": "G", "end": 202, "referenceAllele": "T", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645339.1:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000496441.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000496441.1:p.Tyr43_Gly918delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768299" }, { "coordinates": [ { "allele": "G", "end": 202, "referenceAllele": "T", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645506.1:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000495455.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000495455.1:p.Tyr43_Ala924delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768389" }, { "coordinates": [ { "allele": "G", "end": 202, "referenceAllele": "T", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000646415.1:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000495543.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000495543.1:p.Tyr43_His938delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAspProThrProThrArgAsnThrGlnProLeuThrGlnSerTrpAlaCysValGlySerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768860" }, { "coordinates": [ { "allele": "G", "end": 352, "referenceAllele": "T", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.6:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Tyr43_Thr934delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247203" }, { "coordinates": [ { "allele": "G", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000406134.5:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000384199.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000384199.1:p.Tyr43_Ser921delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGluLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247307" }, { "coordinates": [ { "allele": "G", "end": 109, "endIntronDirection": "-", "endIntronOffset": 39, "referenceAllele": "T", "start": 109, "startIntronDirection": "-", "startIntronOffset": 40 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000454849.5:c.-30-40T>G" ], "proteinEffect": { "hgvs": "ENSP00000411482.1:n.-30-40T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247404" }, { "coordinates": [ { "allele": "G", "end": 109, "endIntronDirection": "-", "endIntronOffset": 39, "referenceAllele": "T", "start": 109, "startIntronDirection": "-", "startIntronOffset": 40 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.5:c.-30-40T>G" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:n.-30-40T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247173" }, { "coordinates": [ { "allele": "G", "end": 169, "referenceAllele": "T", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000610696.4:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000483159.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000483159.1:p.Tyr43_Ser533delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluLysSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400534" }, { "coordinates": [ { "allele": "G", "end": 169, "referenceAllele": "T", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000613514.4:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000484137.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000484137.1:p.Tyr43_Glu485delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgAsnAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401778" }, { "coordinates": [ { "allele": "G", "end": 169, "referenceAllele": "T", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617333.3:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000482468.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000482468.1:p.Tyr43_Val410delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspTyrPheValAspSerGlnIleLeuThrAspLeuProArgSerPheLysAspLysGlnGlnThrTyrLysIleValThrAspSerIleArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403437" }, { "coordinates": [ { "allele": "G", "end": 169, "referenceAllele": "T", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617938.4:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000481158.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000481158.1:p.Tyr43_Cys341delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403700" }, { "coordinates": [ { "allele": "G", "end": 169, "referenceAllele": "T", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000621359.2:c.129T>G" ], "proteinEffect": { "hgvs": "ENSP00000481416.1:p.Tyr43Ter", "hgvsWellDefined": "ENSP00000481416.1:p.Tyr43_Pro810delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrIlePheMetAsnLeuLeuProTrpProIleArgTyrGlnLeuLeuIleIleTyrMetSerGlnHisSerProLeuLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405232" }, { "@id": "http://reg.genome.network/allele/PA331266", "coordinates": [ { "allele": "G", "end": 254, "referenceAllele": "T", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.2:c.129T>G", "LRG_218t1:c.129T>G" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Tyr43Ter", "hgvsWellDefined": "NP_000242.1:p.Tyr43_Thr934delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006313" }, { "coordinates": [ { "allele": "G", "end": 109, "endIntronDirection": "-", "endIntronOffset": 39, "referenceAllele": "T", "start": 109, "startIntronDirection": "-", "startIntronOffset": 40 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_001258281.1:c.-30-40T>G" ], "proteinEffect": { "hgvs": "NP_001245210.1:n.-30-40T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS019766" }, { "coordinates": [ { "allele": "G", "end": 201, "referenceAllele": "T", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.2:c.129T>G" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Tyr43Ter", "hgvsWellDefined": "XP_005264389.2:p.Tyr43_Gly974delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064175" }, { "coordinates": [ { "allele": "G", "end": 201, "referenceAllele": "T", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.1:c.129T>G" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Tyr43Ter", "hgvsWellDefined": "XP_011531169.1:p.Tyr43_Ala924delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099893" }, { "coordinates": [ { "allele": "G", "end": 201, "referenceAllele": "T", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.1:n.201T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS134381" }, { "coordinates": [ { "allele": "G", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.4:c.129T>G" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Tyr43Ter", "hgvsWellDefined": "XP_005264389.2:p.Tyr43_Gly974delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535844" }, { "coordinates": [ { "allele": "G", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.2:c.129T>G" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Tyr43Ter", "hgvsWellDefined": "XP_011531169.1:p.Tyr43_Ala924delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551004" }, { "coordinates": [ { "allele": "G", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_001738747.2:n.191T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS589206" }, { "coordinates": [ { "allele": "G", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.2:n.191T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS612357" }, { "@id": "http://reg.genome.network/allele/PA331266", "coordinates": [ { "allele": "G", "end": 165, "referenceAllele": "T", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.3:c.129T>G" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Tyr43Ter", "hgvsWellDefined": "NP_000242.1:p.Tyr43_Thr934delinsThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674763", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.129T>G" }, "RefSeq": { "hgvs": "NM_000251.3:c.129T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Tyr43Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Tyr43Ter" } } } } ], "type": "nucleotide" }