{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA019387", "communityStandardTitle": [ "NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96269[alleleid]", "alleleId": 96269, "preferredName": "NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90794", "RCV": [ "RCV000076295", "RCV000202086", "RCV000219541", "RCV000524363", "RCV003452858" ], "variationId": 90794 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47630511C>T?assembly=hg19", "id": "chr2:g.47630511C>T" }, { "@id": "http://myvariant.info/v1/variant/chr2:g.47630511_47630512delinsTA?assembly=hg19", "id": "chr2:g.47630511_47630512delinsTA" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47403372C>T?assembly=hg38", "id": "chr2:g.47403372C>T" }, { "@id": "http://myvariant.info/v1/variant/chr2:g.47403372_47403373delinsTA?assembly=hg38", "id": "chr2:g.47403372_47403373delinsTA" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750951", "rs": 63750951 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47630511-C-T?dataset=gnomad_r2_1", "id": "2-47630511-C-T", "variant": "2:47630511 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47403372-C-T?dataset=gnomad_r4", "id": "2-47403372-C-T", "variant": "2:47403372 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47403372, "referenceAllele": "C", "start": 47403371 } ], "hgvs": [ "NC_000002.12:g.47403372C>T", "CM000664.2:g.47403372C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47630511, "referenceAllele": "C", "start": 47630510 } ], "hgvs": [ "NC_000002.11:g.47630511C>T", "CM000664.1:g.47630511C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47484015, "referenceAllele": "C", "start": 47484014 } ], "hgvs": [ "NC_000002.10:g.47484015C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 5249, "referenceAllele": "C", "start": 5248 } ], "hgvs": [ "NG_007110.2:g.5249C>T", "LRG_218:g.5249C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000486" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644900.2:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000495641.2:p.Gln61Ter", "hgvsWellDefined": "ENSP00000495641.2:p.Gln61_Met883delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluValValThrIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914416" }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.7:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Gln61Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Gln61_Thr934delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.181C>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.181C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Gln61Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Gln61Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 122, "referenceAllele": "C", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.6:c.-18C>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:n.-18C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759735" }, { "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "C", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644092.1:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000496351.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000496351.1:p.Gln61_Lys558delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnArgValTyrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767627" }, { "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "C", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645339.1:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000496441.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000496441.1:p.Gln61_Gly918delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768299" }, { "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "C", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645506.1:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000495455.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000495455.1:p.Gln61_Ala924delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768389" }, { "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "C", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000646415.1:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000495543.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000495543.1:p.Gln61_His938delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAspProThrProThrArgAsnThrGlnProLeuThrGlnSerTrpAlaCysValGlySerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768860" }, { "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.6:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Gln61Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Gln61_Thr934delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247203" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000406134.5:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000384199.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000384199.1:p.Gln61_Ser921delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGluLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247307" }, { "coordinates": [ { "allele": "T", "end": 122, "referenceAllele": "C", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000454849.5:c.-18C>T" ], "proteinEffect": { "hgvs": "ENSP00000411482.1:n.-18C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247404" }, { "coordinates": [ { "allele": "T", "end": 122, "referenceAllele": "C", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.5:c.-18C>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:n.-18C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247173" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000610696.4:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000483159.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000483159.1:p.Gln61_Ser533delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluLysSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400534" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000613514.4:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000484137.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000484137.1:p.Gln61_Glu485delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgAsnAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401778" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617333.3:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000482468.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000482468.1:p.Gln61_Val410delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspTyrPheValAspSerGlnIleLeuThrAspLeuProArgSerPheLysAspLysGlnGlnThrTyrLysIleValThrAspSerIleArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403437" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617938.4:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000481158.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000481158.1:p.Gln61_Cys341delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403700" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000621359.2:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000481416.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000481416.1:p.Gln61_Pro810delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrIlePheMetAsnLeuLeuProTrpProIleArgTyrGlnLeuLeuIleIleTyrMetSerGlnHisSerProLeuLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405232" }, { "@id": "http://reg.genome.network/allele/PA248517", "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.2:c.181C>T", "LRG_218t1:c.181C>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Gln61Ter", "hgvsWellDefined": "NP_000242.1:p.Gln61_Thr934delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006313" }, { "coordinates": [ { "allele": "T", "end": 122, "referenceAllele": "C", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_001258281.1:c.-18C>T" ], "proteinEffect": { "hgvs": "NP_001245210.1:n.-18C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019766" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "C", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.2:c.181C>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Gln61Ter", "hgvsWellDefined": "XP_005264389.2:p.Gln61_Gly974delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064175" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "C", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.1:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Gln61Ter", "hgvsWellDefined": "XP_011531169.1:p.Gln61_Ala924delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099893" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "C", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.1:n.253C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134381" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.4:c.181C>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Gln61Ter", "hgvsWellDefined": "XP_005264389.2:p.Gln61_Gly974delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535844" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.2:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Gln61Ter", "hgvsWellDefined": "XP_011531169.1:p.Gln61_Ala924delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551004" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_001738747.2:n.243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589206" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "C", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.2:n.243C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612357" }, { "@id": "http://reg.genome.network/allele/PA248517", "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.3:c.181C>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Gln61Ter", "hgvsWellDefined": "NP_000242.1:p.Gln61_Thr934delinsGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674763", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.181C>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.181C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Gln61Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Gln61Ter" } } } } ], "type": "nucleotide" }