{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA016077", "communityStandardTitle": [ "NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95020[alleleid]", "alleleId": 95020, "preferredName": "NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89546", "RCV": [ "RCV000075015", "RCV001071476", "RCV003162479" ], "variationId": 89546 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.48025764C>A?assembly=hg19", "id": "chr2:g.48025764C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47798625C>A?assembly=hg38", "id": "chr2:g.47798625C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1800937", "rs": 1800937 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47798625, "referenceAllele": "C", "start": 47798624 } ], "hgvs": [ "NC_000002.12:g.47798625C>A", "CM000664.2:g.47798625C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 48025764, "referenceAllele": "C", "start": 48025763 } ], "hgvs": [ "NC_000002.11:g.48025764C>A", "CM000664.1:g.48025764C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47879268, "referenceAllele": "C", "start": 47879267 } ], "hgvs": [ "NC_000002.10:g.47879268C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 20479, "referenceAllele": "C", "start": 20478 } ], "hgvs": [ "NG_007111.1:g.20479C>A", "LRG_219:g.20479C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000411819.2:c.345C>A" ], "proteinEffect": { "hgvs": "ENSP00000406248.2:p.Tyr115Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914023" }, { "coordinates": [ { "allele": "A", "end": 572, "referenceAllele": "C", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000420813.6:c.345C>A" ], "proteinEffect": { "hgvs": "ENSP00000390382.2:p.Tyr115Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914038" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000455383.6:c.345C>A" ], "proteinEffect": { "hgvs": "ENSP00000397484.2:p.Tyr115Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914094" }, { "coordinates": [ { "allele": "A", "end": 726, "referenceAllele": "C", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.2:c.642C>A" ], "proteinEffect": { "hgvs": "ENSP00000514752.2:p.Tyr214Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914477" }, { "coordinates": [ { "allele": "A", "end": 726, "referenceAllele": "C", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000699999.1:n.726C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910870" }, { "coordinates": [ { "allele": "A", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700000.1:c.642C>A" ], "proteinEffect": { "hgvs": "ENSP00000514749.1:p.Tyr214Ter", "hgvsWellDefined": "ENSP00000514749.1:p.Tyr214_Leu838delinsValThrAspLysSerGluGluAspAsnGluIleGluSerGluGluGluValGlnProLysThrGlnGlySerArgArgSerSerArgGlnIleLysLysArgArgValIleSerAspSerGluSerAspIleGlyGlySerAspValGluPheLysProAspThrLysGluGluGlySerSerAspGluIleSerSerGlyValGlyAspSerGluSerGluGlyLeuAsnSerProValLysValAlaArgLysArgLysArgMetValThrGlyAsnGlySerLeuLysArgLysSerSerArgLysGluThrProSerAlaThrLysGlnAlaThrSerIleSerSerGluThrLysAsnThrLeuArgAlaPheSerAlaProGlnAsnSerGluSerGlnAlaHisValSerGlyGlyGlyAspAspSerSerArgProThrValTrpTyrHisGluThrLeuGluTrpLeuLysGluGluLysArgArgAspGluHisArgArgArgProAspHisProAspPheAspAlaSerThrLeuTyrValProGluAspPheLeuAsnSerCysThrProGlyMetArgLysTrpTrpGlnIleLysSerGlnAsnPheAspLeuValIleCysTyrLysValGlyLysPheTyrGluLeuTyrHisMetAspAlaLeuIleGlyValSerGluLeuGlyLeuValPheMetLysGlyAsnTrpAlaHisSerGlyPheProGluIleAlaPheGlyArgTyrSerAspSerLeuValGlnLysGlyTyrLysValAlaArgValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrAsnValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910871" }, { "coordinates": [ { "allele": "A", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700002.1:c.648C>A" ], "proteinEffect": { "hgvs": "ENSP00000514750.1:p.Tyr216Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910873" }, { "coordinates": [ { "allele": "A", "end": 627, "endIntronDirection": "+", "endIntronOffset": 2562, "referenceAllele": "C", "start": 627, "startIntronDirection": "+", "startIntronOffset": 2561 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700003.1:c.627+2562C>A" ], "proteinEffect": { "hgvs": "ENSP00000514751.1:n.627+2562C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910874" }, { "coordinates": [ { "allele": "A", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.11:c.642C>A" ], "proteinEffect": { "hgvs": "ENSP00000234420.5:p.Tyr214Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS740955", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.642C>A" }, "RefSeq": { "hgvs": "NM_000179.3:c.642C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Tyr214Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Tyr214Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.6:c.252C>A" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Tyr84Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS759617" }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000652107.1:c.345C>A" ], "proteinEffect": { "hgvs": "ENSP00000498629.1:p.Tyr115Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS772029" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000673637.1:c.345C>A" ], "proteinEffect": { "hgvs": "ENSP00000501310.1:p.Tyr115Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773747" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000673922.1:n.364C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773977" }, { "coordinates": [ { "allele": "A", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.9:c.642C>A" ], "proteinEffect": { "hgvs": "ENSP00000234420.4:p.Tyr214Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247309" }, { "coordinates": [ { "allele": "T", "end": 180, "endIntronDirection": "-", "endIntronOffset": 9184, "referenceAllele": "G", "start": 180, "startIntronDirection": "-", "startIntronOffset": 9185 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000405808.5:c.170-9185G>T" ], "proteinEffect": { "hgvs": "ENSP00000385127.1:n.170-9185G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247134" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000411819.1:c.345C>A" ], "proteinEffect": { "hgvs": "ENSP00000406248.1:p.Tyr115Ter", "hgvsWellDefined": "ENSP00000406248.1:p.Tyr115_Val151del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247256" }, { "coordinates": [ { "allele": "T", "end": 447, "endIntronDirection": "-", "endIntronOffset": 9184, "referenceAllele": "G", "start": 447, "startIntronDirection": "-", "startIntronOffset": 9185 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000434234.5:c.*125-9185G>T" ], "proteinEffect": { "hgvs": "ENSP00000402692.1:n.*125-9185G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS292930" }, { "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000445503.5:c.472C>A" ], "proteinEffect": { "hgvs": "ENSP00000405294.1:p.Arg158Ser", "hgvsWellDefined": "ENSP00000405294.1:p.Arg158Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS298311" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000455383.5:c.345C>A" ], "proteinEffect": { "hgvs": "ENSP00000397484.1:p.Tyr115Ter", "hgvsWellDefined": "ENSP00000397484.1:p.Tyr115_Val116del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247121" }, { "coordinates": [ { "allele": "A", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000456246.1:c.*130C>A" ], "proteinEffect": { "hgvs": "ENSP00000410570.1:n.*130C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS303398" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000538136.1:c.-265C>A" ], "proteinEffect": { "hgvs": "ENSP00000438580.1:n.-265C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247195" }, { "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.5:c.252C>A" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Tyr84Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247186" }, { "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000614496.4:c.-265C>A" ], "proteinEffect": { "hgvs": "ENSP00000477844.1:n.-265C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS402225" }, { "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000616033.4:c.639C>A" ], "proteinEffect": { "hgvs": "ENSP00000480261.1:p.Tyr213Ter", "hgvsWellDefined": "ENSP00000480261.1:p.Tyr213_Leu1067delinsValThrAspLysSerGluGluAspAsnGluIleGluSerGluGluGluValGlnProLysThrGlnGlySerArgArgSerSerArgGlnIleLysLysArgArgValIleSerAspSerGluSerAspIleGlyGlySerAspValGluPheLysProAspThrLysGluGluGlySerSerAspGluIleSerSerGlyValGlyAspSerGluSerGluGlyLeuAsnSerProValLysValAlaArgLysArgLysArgMetValThrGlyAsnGlySerLeuLysArgLysSerSerArgLysGluThrProSerAlaThrLysGlnAlaThrSerIleSerSerGluThrLysAsnThrLeuArgAlaPheSerAlaProGlnAsnSerGluSerGlnAlaHisValSerGlyGlyGlyAspAspSerSerArgProThrValTrpTyrHisGluThrLeuGluTrpLeuLysGluGluLysArgArgAspGluHisArgArgArgProAspHisProAspPheAspAlaSerThrLeuTyrValProGluAspPheLeuAsnSerCysThrProGlyMetArgLysTrpTrpGlnIleLysSerGlnAsnPheAspLeuValIleCysTyrLysValGlyLysPheTyrGluLeuTyrHisMetAspAlaLeuIleGlyValSerGluLeuGlyLeuValPheMetLysGlyAsnTrpAlaHisSerGlyPheProGluIleAlaPheGlyArgTyrSerAspSerLeuValGlnLysGlyTyrLysValAlaArgValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyLysThrLeuAsnLysLeuValLeuArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402884" }, { "coordinates": [ { "allele": "A", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000622629.4:c.-2455C>A" ], "proteinEffect": { "hgvs": "ENSP00000482078.1:n.-2455C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405814" }, { "coordinates": [ { "allele": "A", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.2:c.642C>A", "LRG_219t1:c.642C>A" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Tyr214Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006241" }, { "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.1:c.252C>A" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Tyr84Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS021654" }, { "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.1:c.-265C>A" ], "proteinEffect": { "hgvs": "NP_001268422.1:n.-265C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS021655" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.1:c.-265C>A" ], "proteinEffect": { "hgvs": "NP_001268423.1:n.-265C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS021656" }, { "coordinates": [ { "allele": "A", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_005264271.1:c.345C>A" ], "proteinEffect": { "hgvs": "XP_005264328.1:p.Tyr115Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064144" }, { "coordinates": [ { "allele": "A", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532798.1:c.459C>A" ], "proteinEffect": { "hgvs": "XP_011531100.1:p.Tyr153Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS099824" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532799.1:c.345C>A" ], "proteinEffect": { "hgvs": "XP_011531101.1:p.Tyr115Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS099825" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532800.1:c.345C>A" ], "proteinEffect": { "hgvs": "XP_011531102.1:p.Tyr115Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS099826" }, { "coordinates": [ { "allele": "A", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452819.1:c.642C>A" ], "proteinEffect": { "hgvs": "XP_024308587.1:p.Tyr214Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS586209" }, { "coordinates": [ { "allele": "A", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452820.1:c.459C>A" ], "proteinEffect": { "hgvs": "XP_024308588.1:p.Tyr153Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS586210" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452821.1:c.345C>A" ], "proteinEffect": { "hgvs": "XP_024308589.1:p.Tyr115Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS586211" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452822.1:c.-265C>A" ], "proteinEffect": { "hgvs": "XP_024308590.1:n.-265C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS586212" }, { "coordinates": [ { "allele": "A", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.3:c.642C>A" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Tyr214Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674738", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.642C>A" }, "RefSeq": { "hgvs": "NM_000179.3:c.642C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Tyr214Ter" }, "RefSeq": { "hgvs": "NP_000170.1:p.Tyr214Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.2:c.252C>A" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Tyr84Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS715702" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.2:c.-265C>A" ], "proteinEffect": { "hgvs": "NP_001268422.1:n.-265C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715703" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.2:c.-265C>A" ], "proteinEffect": { "hgvs": "NP_001268423.1:n.-265C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS715704" } ], "type": "nucleotide" }