{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16610843", "communityStandardTitle": [ "NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=392837[alleleid]", "alleleId": 392837, "preferredName": "NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/408478", "RCV": [ "RCV000467909", "RCV004017628", "RCV004022693" ], "variationId": 408478 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47630415A>T?assembly=hg19", "id": "chr2:g.47630415A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47403276A>T?assembly=hg38", "id": "chr2:g.47403276A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502001", "rs": 1060502001 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47403276-A-T?dataset=gnomad_r4", "id": "2-47403276-A-T", "variant": "2:47403276 A / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47403276, "referenceAllele": "A", "start": 47403275 } ], "hgvs": [ "NC_000002.12:g.47403276A>T", "CM000664.2:g.47403276A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47630415, "referenceAllele": "A", "start": 47630414 } ], "hgvs": [ "NC_000002.11:g.47630415A>T", "CM000664.1:g.47630415A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47483919, "referenceAllele": "A", "start": 47483918 } ], "hgvs": [ "NC_000002.10:g.47483919A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 5153, "referenceAllele": "A", "start": 5152 } ], "hgvs": [ "NG_007110.2:g.5153A>T", "LRG_218:g.5153A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000486" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 121, "referenceAllele": "A", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644900.2:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000495641.2:p.Lys29Ter", "hgvsWellDefined": "ENSP00000495641.2:p.Lys29_Met883delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluValValThrIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914416" }, { "coordinates": [ { "allele": "T", "end": 121, "referenceAllele": "A", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.7:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Lys29Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Lys29_Thr934delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.85A>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.85A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Lys29Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Lys29Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 83, "referenceAllele": "A", "start": 109, "startIntronDirection": "-", "startIntronOffset": 84 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.6:c.-30-84A>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:n.-30-84A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759735" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "A", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644092.1:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000496351.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000496351.1:p.Lys29_Lys558delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnArgValTyrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767627" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "A", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645339.1:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000496441.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000496441.1:p.Lys29_Gly918delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768299" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "A", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645506.1:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000495455.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000495455.1:p.Lys29_Ala924delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768389" }, { "coordinates": [ { "allele": "T", "end": 158, "referenceAllele": "A", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000646415.1:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000495543.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000495543.1:p.Lys29_His938delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAspProThrProThrArgAsnThrGlnProLeuThrGlnSerTrpAlaCysValGlySerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768860" }, { "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "A", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.6:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Lys29Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Lys29_Thr934delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247203" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "A", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000406134.5:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000384199.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000384199.1:p.Lys29_Ser921delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGluLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247307" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 83, "referenceAllele": "A", "start": 109, "startIntronDirection": "-", "startIntronOffset": 84 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000454849.5:c.-30-84A>T" ], "proteinEffect": { "hgvs": "ENSP00000411482.1:n.-30-84A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247404" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 83, "referenceAllele": "A", "start": 109, "startIntronDirection": "-", "startIntronOffset": 84 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.5:c.-30-84A>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:n.-30-84A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247173" }, { "coordinates": [ { "allele": "T", "end": 125, "referenceAllele": "A", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000610696.4:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000483159.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000483159.1:p.Lys29_Ser533delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluLysSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400534" }, { "coordinates": [ { "allele": "T", "end": 125, "referenceAllele": "A", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000613514.4:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000484137.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000484137.1:p.Lys29_Glu485delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgAsnAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401778" }, { "coordinates": [ { "allele": "T", "end": 125, "referenceAllele": "A", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617333.3:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000482468.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000482468.1:p.Lys29_Val410delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspTyrPheValAspSerGlnIleLeuThrAspLeuProArgSerPheLysAspLysGlnGlnThrTyrLysIleValThrAspSerIleArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403437" }, { "coordinates": [ { "allele": "T", "end": 125, "referenceAllele": "A", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617938.4:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000481158.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000481158.1:p.Lys29_Cys341delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403700" }, { "coordinates": [ { "allele": "T", "end": 125, "referenceAllele": "A", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000621359.2:c.85A>T" ], "proteinEffect": { "hgvs": "ENSP00000481416.1:p.Lys29Ter", "hgvsWellDefined": "ENSP00000481416.1:p.Lys29_Pro810delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrIlePheMetAsnLeuLeuProTrpProIleArgTyrGlnLeuLeuIleIleTyrMetSerGlnHisSerProLeuLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405232" }, { "@id": "http://reg.genome.network/allele/PA645471006", "coordinates": [ { "allele": "T", "end": 210, "referenceAllele": "A", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.2:c.85A>T", "LRG_218t1:c.85A>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Lys29Ter", "hgvsWellDefined": "NP_000242.1:p.Lys29_Thr934delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006313" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 83, "referenceAllele": "A", "start": 109, "startIntronDirection": "-", "startIntronOffset": 84 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_001258281.1:c.-30-84A>T" ], "proteinEffect": { "hgvs": "NP_001245210.1:n.-30-84A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019766" }, { "coordinates": [ { "allele": "T", "end": 157, "referenceAllele": "A", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.2:c.85A>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Lys29Ter", "hgvsWellDefined": "XP_005264389.2:p.Lys29_Gly974delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064175" }, { "coordinates": [ { "allele": "T", "end": 157, "referenceAllele": "A", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.1:c.85A>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Lys29Ter", "hgvsWellDefined": "XP_011531169.1:p.Lys29_Ala924delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099893" }, { "coordinates": [ { "allele": "T", "end": 157, "referenceAllele": "A", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.1:n.157A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134381" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "A", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.4:c.85A>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Lys29Ter", "hgvsWellDefined": "XP_005264389.2:p.Lys29_Gly974delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535844" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "A", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.2:c.85A>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Lys29Ter", "hgvsWellDefined": "XP_011531169.1:p.Lys29_Ala924delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551004" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "A", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_001738747.2:n.147A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589206" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "A", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.2:n.147A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612357" }, { "@id": "http://reg.genome.network/allele/PA645471006", "coordinates": [ { "allele": "T", "end": 121, "referenceAllele": "A", "start": 120 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.3:c.85A>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Lys29Ter", "hgvsWellDefined": "NP_000242.1:p.Lys29_Thr934delinsProThrThrThrValArgLeuPheAspArgGlyAspPheTyrThrAlaHisGlyGluAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674763", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.85A>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.85A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Lys29Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Lys29Ter" } } } } ], "type": "nucleotide" }