{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA018272", "communityStandardTitle": [ "NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96137[alleleid]", "alleleId": 96137, "preferredName": "NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90662", "RCV": [ "RCV000076158", "RCV000506167", "RCV000537461", "RCV000582377", "RCV000662482", "RCV001011543", "RCV001354006" ], "variationId": 90662 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47630472G>T?assembly=hg19", "id": "chr2:g.47630472G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47403333G>T?assembly=hg38", "id": "chr2:g.47403333G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750615", "rs": 63750615 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47403333-G-T?dataset=gnomad_r3", "id": "2-47403333-G-T", "variant": "2:47403333 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47403333-G-T?dataset=gnomad_r4", "id": "2-47403333-G-T", "variant": "2:47403333 G / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47403333, "referenceAllele": "G", "start": 47403332 } ], "hgvs": [ "NC_000002.12:g.47403333G>T", "CM000664.2:g.47403333G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47630472, "referenceAllele": "G", "start": 47630471 } ], "hgvs": [ "NC_000002.11:g.47630472G>T", "CM000664.1:g.47630472G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 47483976, "referenceAllele": "G", "start": 47483975 } ], "hgvs": [ "NC_000002.10:g.47483976G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 5210, "referenceAllele": "G", "start": 5209 } ], "hgvs": [ "NG_007110.2:g.5210G>T", "LRG_218:g.5210G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000486" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "G", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644900.2:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000495641.2:p.Glu48Ter", "hgvsWellDefined": "ENSP00000495641.2:p.Glu48_Met883delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluValValThrIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914416" }, { "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "G", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.7:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Glu48Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Glu48_Thr934delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.142G>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.142G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Glu48Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Glu48Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 26, "referenceAllele": "G", "start": 109, "startIntronDirection": "-", "startIntronOffset": 27 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.6:c.-30-27G>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:n.-30-27G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS759735" }, { "coordinates": [ { "allele": "T", "end": 215, "referenceAllele": "G", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000644092.1:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000496351.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000496351.1:p.Glu48_Lys558delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnArgValTyrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767627" }, { "coordinates": [ { "allele": "T", "end": 215, "referenceAllele": "G", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645339.1:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000496441.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000496441.1:p.Glu48_Gly918delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768299" }, { "coordinates": [ { "allele": "T", "end": 215, "referenceAllele": "G", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000645506.1:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000495455.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000495455.1:p.Glu48_Ala924delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768389" }, { "coordinates": [ { "allele": "T", "end": 215, "referenceAllele": "G", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000646415.1:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000495543.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000495543.1:p.Glu48_His938delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAspProThrProThrArgAsnThrGlnProLeuThrGlnSerTrpAlaCysValGlySerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768860" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000233146.6:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000233146.2:p.Glu48Ter", "hgvsWellDefined": "ENSP00000233146.2:p.Glu48_Thr934delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247203" }, { "coordinates": [ { "allele": "T", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000406134.5:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000384199.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000384199.1:p.Glu48_Ser921delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGluLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247307" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 26, "referenceAllele": "G", "start": 109, "startIntronDirection": "-", "startIntronOffset": 27 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000454849.5:c.-30-27G>T" ], "proteinEffect": { "hgvs": "ENSP00000411482.1:n.-30-27G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247404" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 26, "referenceAllele": "G", "start": 109, "startIntronDirection": "-", "startIntronOffset": 27 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000543555.5:c.-30-27G>T" ], "proteinEffect": { "hgvs": "ENSP00000442697.1:n.-30-27G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247173" }, { "coordinates": [ { "allele": "T", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000610696.4:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000483159.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000483159.1:p.Glu48_Ser533delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluLysSerProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400534" }, { "coordinates": [ { "allele": "T", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000613514.4:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000484137.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000484137.1:p.Glu48_Glu485delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgAsnAsnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401778" }, { "coordinates": [ { "allele": "T", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617333.3:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000482468.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000482468.1:p.Glu48_Val410delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspTyrPheValAspSerGlnIleLeuThrAspLeuProArgSerPheLysAspLysGlnGlnThrTyrLysIleValThrAspSerIleArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403437" }, { "coordinates": [ { "allele": "T", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000617938.4:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000481158.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000481158.1:p.Glu48_Cys341delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnThrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403700" }, { "coordinates": [ { "allele": "T", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "ENST00000621359.2:c.142G>T" ], "proteinEffect": { "hgvs": "ENSP00000481416.1:p.Glu48Ter", "hgvsWellDefined": "ENSP00000481416.1:p.Glu48_Pro810delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrIlePheMetAsnLeuLeuProTrpProIleArgTyrGlnLeuLeuIleIleTyrMetSerGlnHisSerProLeuLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405232" }, { "@id": "http://reg.genome.network/allele/PA331296", "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "G", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.2:c.142G>T", "LRG_218t1:c.142G>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Glu48Ter", "hgvsWellDefined": "NP_000242.1:p.Glu48_Thr934delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006313" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 26, "referenceAllele": "G", "start": 109, "startIntronDirection": "-", "startIntronOffset": 27 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_001258281.1:c.-30-27G>T" ], "proteinEffect": { "hgvs": "NP_001245210.1:n.-30-27G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019766" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.2:c.142G>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Glu48Ter", "hgvsWellDefined": "XP_005264389.2:p.Glu48_Gly974delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064175" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.1:c.142G>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Glu48Ter", "hgvsWellDefined": "XP_011531169.1:p.Glu48_Ala924delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099893" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.1:n.214G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134381" }, { "coordinates": [ { "allele": "T", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_005264332.4:c.142G>T" ], "proteinEffect": { "hgvs": "XP_005264389.2:p.Glu48Ter", "hgvsWellDefined": "XP_005264389.2:p.Glu48_Gly974delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerGlyGlyAspPheLysArgLysSerLeuValValCysLysAlaThrAsnProAlaLeuLysTrpIleValProSerProLeuAsnGluPheSerPheIleHisLeuGluLysHisSerLeuValLeuSerMetGluLeuGlnAlaThrSerGlyGlyAlaGlnCysProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535844" }, { "coordinates": [ { "allele": "T", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XM_011532867.2:c.142G>T" ], "proteinEffect": { "hgvs": "XP_011531169.1:p.Glu48Ter", "hgvsWellDefined": "XP_011531169.1:p.Glu48_Ala924delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluAsnLeuArgValThrGluProLysAspGlnCysLeuIleLeuLeuThrTrpLysArgLysLeuArgGlyGlyLysArgSerAlaCysSerArgProGluArgGlnAsnGlnGlySerAlaThrProSerAlaSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551004" }, { "coordinates": [ { "allele": "T", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_001738747.2:n.204G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589206" }, { "coordinates": [ { "allele": "T", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "XR_939685.2:n.204G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612357" }, { "@id": "http://reg.genome.network/allele/PA331296", "coordinates": [ { "allele": "T", "end": 178, "referenceAllele": "G", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN007325", "geneNCBI_id": 4436, "geneSymbol": "MSH2", "hgvs": [ "NM_000251.3:c.142G>T" ], "proteinEffect": { "hgvs": "NP_000242.1:p.Glu48Ter", "hgvsWellDefined": "NP_000242.1:p.Glu48_Thr934delinsAspAlaLeuLeuAlaAlaArgGluValPheLysThrGlnGlyValIleLysTyrMetGlyProAlaGlyAlaLysAsnLeuGlnSerValValLeuSerLysMetAsnPheGluSerPheValLysAspLeuLeuLeuValArgGlnTyrArgValGluValTyrLysAsnArgAlaGlyAsnLysAlaSerLysGluAsnAspTrpTyrLeuAlaTyrLysAlaSerProGlyAsnLeuSerGlnPheGluAspIleLeuPheGlyAsnAsnAspMetSerAlaSerIleGlyValValGlyValLysMetSerAlaValAspGlyGlnArgGlnValGlyValGlyTyrValAspSerIleGlnArgLysLeuGlyLeuCysGluPheProAspAsnAspGlnPheSerAsnLeuGluAlaLeuLeuIleGlnIleGlyProLysGluCysValLeuProGlyGlyGluThrAlaGlyAspMetGlyLysLeuArgGlnIleIleGlnArgGlyGlyIleLeuIleThrGluArgLysLysAlaAspPheSerThrLysAspIleTyrGlnAspLeuAsnArgLeuLeuLysGlyLysLysGlyGluGlnMetAsnSerAlaValLeuProGluMetGluAsnGlnValAlaValSerSerLeuSerAlaValIleLysPheLeuGluLeuLeuSerAspAspSerAsnPheGlyGlnPheGluLeuThrThrPheAspPheSerGlnTyrMetLysLeuAspIleAlaAlaValArgAlaLeuAsnLeuPheGlnGlySerValGluAspThrThrGlySerGlnSerLeuAlaAlaLeuLeuAsnLysCysLysThrProGlnGlyGlnArgLeuValAsnGlnTrpIleLysGlnProLeuMetAspLysAsnArgIleGluGluArgLeuAsnLeuValGluAlaPheValGluAspAlaGluLeuArgGlnThrLeuGlnGluAspLeuLeuArgArgPheProAspLeuAsnArgLeuAlaLysLysPheGlnArgGlnAlaAlaAsnLeuGlnAspCysTyrArgLeuTyrGlnGlyIleAsnGlnLeuProAsnValIleGlnAlaLeuGluLysHisGluGlyLysHisGlnLysLeuLeuLeuAlaValPheValThrProLeuThrAspLeuArgSerAspPheSerLysPheGlnGluMetIleGluThrThrLeuAspMetAspGlnValGluAsnHisGluPheLeuValLysProSerPheAspProAsnLeuSerGluLeuArgGluIleMetAsnAspLeuGluLysLysMetGlnSerThrLeuIleSerAlaAlaArgAspLeuGlyLeuAspProGlyLysGlnIleLysLeuAspSerSerAlaGlnPheGlyTyrTyrPheArgValThrCysLysGluGluLysValLeuArgAsnAsnLysAsnPheSerThrValAspIleGlnLysAsnGlyValLysPheThrAsnSerLysLeuThrSerLeuAsnGluGluTyrThrLysAsnLysThrGluTyrGluGluAlaGlnAspAlaIleValLysGluIleValAsnIleSerSerGlyTyrValGluProMetGlnThrLeuAsnAspValLeuAlaGlnLeuAspAlaValValSerPheAlaHisValSerAsnGlyAlaProValProTyrValArgProAlaIleLeuGluLysGlyGlnGlyArgIleIleLeuLysAlaSerArgHisAlaCysValGluValGlnAspGluIleAlaPheIleProAsnAspValTyrPheGluLysAspLysGlnMetPheHisIleIleThrGlyProAsnMetGlyGlyLysSerThrTyrIleArgGlnThrGlyValIleValLeuMetAlaGlnIleGlyCysPheValProCysGluSerAlaGluValSerIleValAspCysIleLeuAlaArgValGlyAlaGlyAspSerGlnLeuLysGlyValSerThrPheMetAlaGluMetLeuGluThrAlaSerIleLeuArgSerAlaThrLysAspSerLeuIleIleIleAspGluLeuGlyArgGlyThrSerThrTyrAspGlyPheGlyLeuAlaTrpAlaIleSerGluTyrIleAlaThrLysIleGlyAlaPheCysMetPheAlaThrHisPheHisGluLeuThrAlaLeuAlaAsnGlnIleProThrValAsnAsnLeuHisValThrAlaLeuThrThrGluGluThrLeuThrMetLeuTyrGlnValLysLysGlyValCysAspGlnSerPheGlyIleHisValAlaGluLeuAlaAsnPheProLysHisValIleGluCysAlaLysGlnLysAlaLeuGluLeuGluGluPheGlnTyrIleGlyGluSerGlnGlyTyrAspIleMetGluProAlaAlaLysLysCysTyrLeuGluArgGluGlnGlyGluLysIleIleGlnGluPheLeuSerLysValLysGlnMetProPheThrGluMetSerGluGluAsnIleThrIleLysLeuLysGlnLeuLysAlaGluValIleAlaLysAsnAsnSerPheValAsnGluIleIleSerArgIleLysValThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674763", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000233146.7:c.142G>T" }, "RefSeq": { "hgvs": "NM_000251.3:c.142G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000233146.2:p.Glu48Ter" }, "RefSeq": { "hgvs": "NP_000242.1:p.Glu48Ter" } } } } ], "type": "nucleotide" }