{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367427184", "communityStandardTitle": [ "NM_031443.4(CCM2):c.151G>T (p.Glu51Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061091[alleleid]", "alleleId": 1061091, "preferredName": "NM_031443.4(CCM2):c.151G>T (p.Glu51Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1076028", "RCV": [ "RCV001389766" ], "variationId": 1076028 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.45077972G>T?assembly=hg19", "id": "chr7:g.45077972G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.45038373G>T?assembly=hg38", "id": "chr7:g.45038373G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2128729177", "rs": 2128729177 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 45038373, "referenceAllele": "G", "start": 45038372 } ], "hgvs": [ "NC_000007.14:g.45038373G>T", "CM000669.2:g.45038373G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 45077972, "referenceAllele": "G", "start": 45077971 } ], "hgvs": [ "NC_000007.13:g.45077972G>T", "CM000669.1:g.45077972G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 45044497, "referenceAllele": "G", "start": 45044496 } ], "hgvs": [ "NC_000007.12:g.45044497G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 43186, "referenceAllele": "G", "start": 43185 } ], "hgvs": [ "NG_016295.1:g.43186G>T", "LRG_664:g.43186G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003084" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000258781.11:c.151G>T" ], "proteinEffect": { "hgvs": "ENSP00000258781.7:p.Glu51Ter", "hgvsWellDefined": "ENSP00000258781.7:p.Glu51_Ala444delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741935", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258781.11:c.151G>T" }, "RefSeq": { "hgvs": "NM_031443.4:c.151G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258781.7:p.Glu51Ter" }, "RefSeq": { "hgvs": "NP_113631.1:p.Glu51Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000648329.1:c.151G>T" ], "proteinEffect": { "hgvs": "ENSP00000496916.1:p.Glu51Ter", "hgvsWellDefined": "ENSP00000496916.1:p.Glu51_Pro256delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspPheAlaValHisIleSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769914" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000258781.10:c.151G>T" ], "proteinEffect": { "hgvs": "ENSP00000258781.6:p.Glu51Ter", "hgvsWellDefined": "ENSP00000258781.6:p.Glu51_Ala444delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250425" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000381112.7:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000370503.3:p.Glu72Ter", "hgvsWellDefined": "ENSP00000370503.3:p.Glu72_Ala465delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273218" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000461377.5:n.504G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS305900" }, { "coordinates": [ { "allele": "T", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000472223.5:n.218G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS314254" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "G", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000474617.1:c.133G>T" ], "proteinEffect": { "hgvs": "ENSP00000419474.1:p.Glu45Ter", "hgvsWellDefined": "ENSP00000419474.1:p.Glu45_Ala347delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS316090" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "G", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000475551.5:c.133G>T" ], "proteinEffect": { "hgvs": "ENSP00000417180.1:p.Glu45Ter", "hgvsWellDefined": "ENSP00000417180.1:p.Glu45_Ala438delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS316811" }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "G", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000476594.1:n.113G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317608" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "G", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000478169.5:n.373G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318829" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000478582.5:n.362G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319158" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "G", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000480658.5:n.247G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320752" }, { "coordinates": [ { "allele": "T", "end": 126, "endIntronDirection": "+", "endIntronOffset": 10576, "referenceAllele": "G", "start": 126, "startIntronDirection": "+", "startIntronOffset": 10575 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000482714.5:n.126+10576G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322343" }, { "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "G", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000488727.5:c.151G>T" ], "proteinEffect": { "hgvs": "ENSP00000417251.1:p.Glu51Ter", "hgvsWellDefined": "ENSP00000417251.1:p.Glu51_Ser271delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaAlaSerLeuAsnLeuTrpMetTrpValValHisHisProThrAlaArgProSerValArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS326948" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "G", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000492883.5:n.247G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS330168" }, { "coordinates": [ { "allele": "T", "end": 176, "endIntronDirection": "-", "endIntronOffset": 25544, "referenceAllele": "G", "start": 176, "startIntronDirection": "-", "startIntronOffset": 25545 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000541586.5:c.31-25545G>T" ], "proteinEffect": { "hgvs": "ENSP00000444725.1:n.31-25545G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS363000" }, { "coordinates": [ { "allele": "T", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000544363.5:c.151G>T" ], "proteinEffect": { "hgvs": "ENSP00000438035.1:p.Glu51Ter", "hgvsWellDefined": "ENSP00000438035.1:p.Glu51_Ala353delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364520" }, { "@id": "http://reg.genome.network/allele/PA2499235346", "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001029835.2:c.214G>T", "LRG_664t1:c.214G>T" ], "proteinEffect": { "hgvs": "NP_001025006.1:p.Glu72Ter", "hgvsWellDefined": "NP_001025006.1:p.Glu72_Ala465delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" 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"XP_016868160.1:p.Glu72_Cys318delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerGlyProTrpProAspProTrpGluAlaAlaGlnAlaAlaLeuGlyGlyGlnLeuAlaValValGluGlnTrpGlnMetGlyLysAsnGlyArgTyrProArgAlaValSerSerCysMetAlaHisThrAlaPheSerGlyValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566216" }, { "coordinates": [ { "allele": "T", "end": 791, "endIntronDirection": "+", "endIntronOffset": 10576, "referenceAllele": "G", "start": 791, "startIntronDirection": "+", "startIntronOffset": 10575 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_017012672.2:c.93+10576G>T" ], "proteinEffect": { "hgvs": "XP_016868161.1:n.93+10576G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566217" }, { "coordinates": [ { "allele": "T", "end": 131, "endIntronDirection": "-", "endIntronOffset": 25544, "referenceAllele": "G", "start": 131, "startIntronDirection": "-", "startIntronOffset": 25545 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_017012673.1:c.31-25545G>T" ], "proteinEffect": { "hgvs": "XP_016868162.1:n.31-25545G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566218" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "G", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ 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"NP_001350387.1:p.Glu51_Ala485delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690651" }, { "coordinates": [ { "allele": "T", "end": 163, "endIntronDirection": "-", "endIntronOffset": 25544, "referenceAllele": "G", "start": 163, "startIntronDirection": "-", "startIntronOffset": 25545 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363459.2:c.31-25545G>T" ], "proteinEffect": { "hgvs": "NP_001350388.1:n.31-25545G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690652" }, { "@id": "http://reg.genome.network/allele/PA2830059471", "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_031443.4:c.151G>T" ], "proteinEffect": { "hgvs": "NP_113631.1:p.Glu51Ter", "hgvsWellDefined": "NP_113631.1:p.Glu51_Ala444delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258781.11:c.151G>T" }, "RefSeq": { "hgvs": "NM_031443.4:c.151G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258781.7:p.Glu51Ter" }, "RefSeq": { "hgvs": "NP_113631.1:p.Glu51Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 233, "referenceAllele": "G", "start": 232 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NR_030770.2:n.233G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702076" }, { "coordinates": [ { "allele": "T", "end": 163, "endIntronDirection": "-", "endIntronOffset": 25544, "referenceAllele": "G", "start": 163, "startIntronDirection": "-", "startIntronOffset": 25545 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167934.2:c.31-25545G>T" ], "proteinEffect": { "hgvs": "NP_001161406.1:n.31-25545G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713260" }, { "@id": "http://reg.genome.network/allele/PA2826050994", "coordinates": [ { "allele": "T", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167935.2:c.151G>T" ], "proteinEffect": { "hgvs": "NP_001161407.1:p.Glu51Ter", "hgvsWellDefined": "NP_001161407.1:p.Glu51_Ala353delinsArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713261" } ], "type": "nucleotide" }