{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA252392", "communityStandardTitle": [ "NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1090028", "active": true, "id": "COSM1090028" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17720[alleleid]", "alleleId": 17720, "preferredName": "NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2681", "RCV": [ "RCV000002800", "RCV000289897" ], "variationId": 2681 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.45104092C>T?assembly=hg19", "id": "chr7:g.45104092C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.45064493C>T?assembly=hg38", "id": "chr7:g.45064493C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852841", 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"NP_001025006.1:p.Gln128_Ala465delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008909" }, { "@id": "http://reg.genome.network/allele/PA2826050840", "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167934.1:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001161406.1:p.Gln49Ter", "hgvsWellDefined": "NP_001161406.1:p.Gln49_Ala386delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015025" }, { "@id": "http://reg.genome.network/allele/PA2826051014", "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167935.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001161407.1:p.Gln107Ter", "hgvsWellDefined": "NP_001161407.1:p.Gln107_Ala353delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015026" }, { "@id": "http://reg.genome.network/allele/PA252395", "coordinates": [ { "allele": "T", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_031443.3:c.319C>T", "LRG_664t2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_113631.1:p.Gln107Ter", "hgvsWellDefined": "NP_113631.1:p.Gln107_Ala444delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038639" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NR_030770.1:n.401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS048700" }, { "coordinates": [ { "allele": "T", "end": 231, "referenceAllele": "C", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_006715785.2:c.208C>T" ], "proteinEffect": { "hgvs": "XP_006715848.1:p.Gln70Ter", "hgvsWellDefined": "XP_006715848.1:p.Gln70_Ala407delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071357" }, { "coordinates": [ { "allele": "T", "end": 395, "referenceAllele": "C", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_006715786.2:c.382C>T" ], "proteinEffect": { "hgvs": "XP_006715849.1:p.Gln128Ter", "hgvsWellDefined": "XP_006715849.1:p.Gln128_Ala374delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071358" }, { "coordinates": [ { "allele": "T", "end": 395, "referenceAllele": "C", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_011515561.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_011513863.1:p.Gln128Ter", "hgvsWellDefined": "XP_011513863.1:p.Gln128_Ala506delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082781" }, { "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "C", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_011515562.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011513864.1:p.Gln107Ter", "hgvsWellDefined": "XP_011513864.1:p.Gln107_Ala485delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082782" }, { "coordinates": [ { "allele": "T", "end": 234, "referenceAllele": "C", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_011515563.1:c.208C>T" ], "proteinEffect": { "hgvs": "XP_011513865.1:p.Gln70Ter", "hgvsWellDefined": "XP_011513865.1:p.Gln70_Ala448delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082783" }, { "coordinates": [ { "allele": "T", "end": 246, "referenceAllele": "C", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_011515564.1:c.145C>T" ], "proteinEffect": { "hgvs": "XP_011513866.1:p.Gln49Ter", "hgvsWellDefined": "XP_011513866.1:p.Gln49_Ala427delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082784" }, { "coordinates": [ { "allele": "T", "end": 395, "referenceAllele": "C", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XR_428088.2:n.395C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117955" }, { "@id": "http://reg.genome.network/allele/PA2828086516", "coordinates": [ { "allele": "T", "end": 452, "referenceAllele": "C", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363458.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001350387.1:p.Gln107Ter", "hgvsWellDefined": "NP_001350387.1:p.Gln107_Ala485delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523309" }, { "@id": "http://reg.genome.network/allele/PA916043725", "coordinates": [ { "allele": "T", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363459.1:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001350388.1:p.Gln49Ter", "hgvsWellDefined": "NP_001350388.1:p.Gln49_Ala427delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523310" }, { "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_006715785.4:c.208C>T" ], "proteinEffect": { "hgvs": "XP_006715848.1:p.Gln70Ter", "hgvsWellDefined": "XP_006715848.1:p.Gln70_Ala407delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539032" }, { "coordinates": [ { "allele": "T", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_006715786.3:c.382C>T" ], "proteinEffect": { "hgvs": "XP_006715849.1:p.Gln128Ter", "hgvsWellDefined": "XP_006715849.1:p.Gln128_Ala374delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539033" }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_011515561.2:c.382C>T" ], "proteinEffect": { "hgvs": "XP_011513863.1:p.Gln128Ter", "hgvsWellDefined": "XP_011513863.1:p.Gln128_Ala506delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543808" }, { "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_011515563.3:c.208C>T" ], "proteinEffect": { "hgvs": "XP_011513865.1:p.Gln70Ter", "hgvsWellDefined": "XP_011513865.1:p.Gln70_Ala448delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543809" }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_017012671.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_016868160.1:p.Gln128Ter", "hgvsWellDefined": "XP_016868160.1:p.Gln128_Cys318delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerGlyProTrpProAspProTrpGluAlaAlaGlnAlaAlaLeuGlyGlyGlnLeuAlaValValGluGlnTrpGlnMetGlyLysAsnGlyArgTyrProArgAlaValSerSerCysMetAlaHisThrAlaPheSerGlyValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566216" }, { "coordinates": [ { "allele": "T", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_017012672.2:c.208C>T" ], "proteinEffect": { "hgvs": "XP_016868161.1:p.Gln70Ter", "hgvsWellDefined": "XP_016868161.1:p.Gln70_Cys260delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerGlyProTrpProAspProTrpGluAlaAlaGlnAlaAlaLeuGlyGlyGlnLeuAlaValValGluGlnTrpGlnMetGlyLysAsnGlyArgTyrProArgAlaValSerSerCysMetAlaHisThrAlaPheSerGlyValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566217" }, { "coordinates": [ { "allele": "T", "end": 246, "referenceAllele": "C", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_017012673.1:c.145C>T" ], "proteinEffect": { "hgvs": "XP_016868162.1:p.Gln49Ter", "hgvsWellDefined": "XP_016868162.1:p.Gln49_Cys239delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerGlyProTrpProAspProTrpGluAlaAlaGlnAlaAlaLeuGlyGlyGlnLeuAlaValValGluGlnTrpGlnMetGlyLysAsnGlyArgTyrProArgAlaValSerSerCysMetAlaHisThrAlaPheSerGlyValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566218" }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XR_428088.3:n.415C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606512" }, { "@id": "http://reg.genome.network/allele/PA2828086516", "coordinates": [ { "allele": "T", "end": 452, "referenceAllele": "C", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363458.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001350387.1:p.Gln107Ter", "hgvsWellDefined": "NP_001350387.1:p.Gln107_Ala485delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690651" }, { "@id": "http://reg.genome.network/allele/PA916043725", "coordinates": [ { "allele": "T", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363459.2:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001350388.1:p.Gln49Ter", "hgvsWellDefined": "NP_001350388.1:p.Gln49_Ala427delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690652" }, { "@id": "http://reg.genome.network/allele/PA252395", "coordinates": [ { "allele": "T", "end": 452, "referenceAllele": "C", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_031443.4:c.319C>T" ], "proteinEffect": { "hgvs": "NP_113631.1:p.Gln107Ter", "hgvsWellDefined": "NP_113631.1:p.Gln107_Ala444delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258781.11:c.319C>T" }, "RefSeq": { "hgvs": "NM_031443.4:c.319C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258781.7:p.Gln107Ter" }, "RefSeq": { "hgvs": "NP_113631.1:p.Gln107Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NR_030770.2:n.401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702076" }, { "@id": "http://reg.genome.network/allele/PA2826050840", "coordinates": [ { "allele": "T", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167934.2:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001161406.1:p.Gln49Ter", "hgvsWellDefined": "NP_001161406.1:p.Gln49_Ala386delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713260" }, { "@id": "http://reg.genome.network/allele/PA2826051014", "coordinates": [ { "allele": "T", "end": 452, "referenceAllele": "C", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167935.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001161407.1:p.Gln107Ter", "hgvsWellDefined": "NP_001161407.1:p.Gln107_Ala353delinsGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713261" } ], "type": "nucleotide" }