{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367423646", "communityStandardTitle": [ "NM_031443.4(CCM2):c.7G>T (p.Glu3Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=861568[alleleid]", "alleleId": 861568, "preferredName": "NM_031443.4(CCM2):c.7G>T (p.Glu3Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873433", "RCV": [ "RCV001095648" ], "variationId": 873433 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.45039939G>T?assembly=hg19", "id": "chr7:g.45039939G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.45000340G>T?assembly=hg38", "id": "chr7:g.45000340G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1795541254", "rs": 1795541254 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-45000340-G-T?dataset=gnomad_r4", "id": "7-45000340-G-T", "variant": "7:45000340 G / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 45000340, "referenceAllele": "G", "start": 45000339 } ], "hgvs": [ "NC_000007.14:g.45000340G>T", "CM000669.2:g.45000340G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 45039939, "referenceAllele": "G", "start": 45039938 } ], "hgvs": [ "NC_000007.13:g.45039939G>T", "CM000669.1:g.45039939G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 45006464, "referenceAllele": "G", "start": 45006463 } ], "hgvs": [ "NC_000007.12:g.45006464G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 5153, "referenceAllele": "G", "start": 5152 } ], "hgvs": [ "NG_016295.1:g.5153G>T", "LRG_664:g.5153G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003084" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000258781.11:c.7G>T" ], "proteinEffect": { "hgvs": "ENSP00000258781.7:p.Glu3Ter", "hgvsWellDefined": "ENSP00000258781.7:p.Glu4_Ala444delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741935", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258781.11:c.7G>T" }, "RefSeq": { "hgvs": "NM_031443.4:c.7G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258781.7:p.Glu3Ter" }, "RefSeq": { "hgvs": "NP_113631.1:p.Glu3Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 41, "referenceAllele": "G", "start": 40 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000648329.1:c.7G>T" ], "proteinEffect": { "hgvs": "ENSP00000496916.1:p.Glu3Ter", "hgvsWellDefined": "ENSP00000496916.1:p.Glu4_Pro256delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspPheAlaValHisIleSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769914" }, { "coordinates": [ { "allele": "T", "end": 156, "referenceAllele": "G", "start": 155 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000258781.10:c.7G>T" ], "proteinEffect": { "hgvs": "ENSP00000258781.6:p.Glu3Ter", "hgvsWellDefined": "ENSP00000258781.6:p.Glu4_Ala444delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250425" }, { "coordinates": [ { "allele": "T", "end": 383, "endIntronDirection": "+", "endIntronOffset": 483, "referenceAllele": "G", "start": 383, "startIntronDirection": "+", "startIntronOffset": 482 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000461377.5:n.383+483G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS305900" }, { "coordinates": [ { "allele": "T", "end": 152, "referenceAllele": "G", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000478582.5:n.152G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319158" }, { "coordinates": [ { "allele": "T", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000488727.5:c.7G>T" ], "proteinEffect": { "hgvs": "ENSP00000417251.1:p.Glu3Ter", "hgvsWellDefined": "ENSP00000417251.1:p.Glu4_Ser271delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaAlaSerLeuAsnLeuTrpMetTrpValValHisHisProThrAlaArgProSerValArgAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS326948" }, { "coordinates": [ { "allele": "T", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000541586.5:c.7G>T" ], "proteinEffect": { "hgvs": "ENSP00000444725.1:p.Glu3Ter", "hgvsWellDefined": "ENSP00000444725.1:p.Glu4_Ala386delinsGlyLysLysGlyLysLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363000" }, { "coordinates": [ { "allele": "T", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "ENST00000544363.5:c.7G>T" ], "proteinEffect": { "hgvs": "ENSP00000438035.1:p.Glu3Ter", "hgvsWellDefined": "ENSP00000438035.1:p.Glu4_Ala353delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364520" }, { "@id": "http://reg.genome.network/allele/PA2826050826", "coordinates": [ { "allele": "T", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167934.1:c.7G>T" ], "proteinEffect": { "hgvs": "NP_001161406.1:p.Glu3Ter", "hgvsWellDefined": "NP_001161406.1:p.Glu4_Ala386delinsGlyLysLysGlyLysLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015025" }, { "@id": "http://reg.genome.network/allele/PA2826050980", "coordinates": [ { "allele": "T", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167935.1:c.7G>T" ], "proteinEffect": { "hgvs": "NP_001161407.1:p.Glu3Ter", "hgvsWellDefined": "NP_001161407.1:p.Glu4_Ala353delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015026" }, { "@id": "http://reg.genome.network/allele/PA1139751176", "coordinates": [ { "allele": "T", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_031443.3:c.7G>T", "LRG_664t2:c.7G>T" ], "proteinEffect": { "hgvs": "NP_113631.1:p.Glu3Ter", "hgvsWellDefined": "NP_113631.1:p.Glu4_Ala444delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038639" }, { "coordinates": [ { "allele": "T", "end": 112, "endIntronDirection": "+", "endIntronOffset": 483, "referenceAllele": "G", "start": 112, "startIntronDirection": "+", "startIntronOffset": 482 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NR_030770.1:n.112+483G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS048700" }, { "coordinates": [ { "allele": "T", "end": 134, "referenceAllele": "G", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_011515562.1:c.7G>T" ], "proteinEffect": { "hgvs": "XP_011513864.1:p.Glu3Ter", "hgvsWellDefined": "XP_011513864.1:p.Glu4_Ala485delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082782" }, { "coordinates": [ { "allele": "T", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_011515564.1:c.7G>T" ], "proteinEffect": { "hgvs": "XP_011513866.1:p.Glu3Ter", "hgvsWellDefined": "XP_011513866.1:p.Glu4_Ala427delinsGlyLysLysGlyLysLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082784" }, { "@id": "http://reg.genome.network/allele/PA2828086482", "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363458.1:c.7G>T" ], "proteinEffect": { "hgvs": "NP_001350387.1:p.Glu3Ter", "hgvsWellDefined": "NP_001350387.1:p.Glu4_Ala485delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523309" }, { "@id": "http://reg.genome.network/allele/PA2828086617", "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363459.1:c.7G>T" ], "proteinEffect": { "hgvs": "NP_001350388.1:p.Glu3Ter", "hgvsWellDefined": "NP_001350388.1:p.Glu4_Ala427delinsGlyLysLysGlyLysLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523310" }, { "coordinates": [ { "allele": "T", "end": 108, "referenceAllele": "G", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "XM_017012673.1:c.7G>T" ], "proteinEffect": { "hgvs": "XP_016868162.1:p.Glu3Ter", "hgvsWellDefined": "XP_016868162.1:p.Glu4_Cys239delinsGlyLysLysGlyLysLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerGlyProTrpProAspProTrpGluAlaAlaGlnAlaAlaLeuGlyGlyGlnLeuAlaValValGluGlnTrpGlnMetGlyLysAsnGlyArgTyrProArgAlaValSerSerCysMetAlaHisThrAlaPheSerGlyValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566218" }, { "@id": "http://reg.genome.network/allele/PA2828086482", "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363458.2:c.7G>T" ], "proteinEffect": { "hgvs": "NP_001350387.1:p.Glu3Ter", "hgvsWellDefined": "NP_001350387.1:p.Glu4_Ala485delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690651" }, { "@id": "http://reg.genome.network/allele/PA2828086617", "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001363459.2:c.7G>T" ], "proteinEffect": { "hgvs": "NP_001350388.1:p.Glu3Ter", "hgvsWellDefined": "NP_001350388.1:p.Glu4_Ala427delinsGlyLysLysGlyLysLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690652" }, { "@id": "http://reg.genome.network/allele/PA1139751176", "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_031443.4:c.7G>T" ], "proteinEffect": { "hgvs": "NP_113631.1:p.Glu3Ter", "hgvsWellDefined": "NP_113631.1:p.Glu4_Ala444delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258781.11:c.7G>T" }, "RefSeq": { "hgvs": "NM_031443.4:c.7G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258781.7:p.Glu3Ter" }, "RefSeq": { "hgvs": "NP_113631.1:p.Glu3Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 112, "endIntronDirection": "+", "endIntronOffset": 483, "referenceAllele": "G", "start": 112, "startIntronDirection": "+", "startIntronOffset": 482 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NR_030770.2:n.112+483G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702076" }, { "@id": "http://reg.genome.network/allele/PA2826050826", "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167934.2:c.7G>T" ], "proteinEffect": { "hgvs": "NP_001161406.1:p.Glu3Ter", "hgvsWellDefined": "NP_001161406.1:p.Glu4_Ala386delinsGlyLysLysGlyLysLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713260" }, { "@id": "http://reg.genome.network/allele/PA2826050980", "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167935.2:c.7G>T" ], "proteinEffect": { "hgvs": "NP_001161407.1:p.Glu3Ter", "hgvsWellDefined": "NP_001161407.1:p.Glu4_Ala353delinsGlyLysLysGlyLysLysProGlyIleValSerProPheLysArgValPheLeuLysGlyGluLysSerArgAspLysLysAlaHisGluLysValThrGluArgArgProLeuHisThrValValLeuSerLeuProGluArgValGluProAspArgLeuLeuSerAspTyrIleGluLysGluValLysTyrLeuGlyGlnLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713261" } ], "type": "nucleotide" }