{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129544", "communityStandardTitle": [ "NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1199753", "active": true, "id": "COSM1199753" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1199754", "active": true, "id": "COSM1199754" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15786[alleleid]", "alleleId": 15786, "preferredName": "NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/747", "RCV": [ "RCV000000783", "RCV000023922", "RCV000199602", "RCV000578695", "RCV002251848", "RCV002476904" ], "variationId": 747 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-15565108-C-T", "id": "4-15565108-C-T", "variant": "4:15565108 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.15565108C>T?assembly=hg19", "id": "chr4:g.15565108C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.15563485C>T?assembly=hg38", "id": "chr4:g.15563485C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/386833750", "rs": 386833750 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-15565108-C-T?dataset=gnomad_r2_1", "id": "4-15565108-C-T", "variant": "4:15565108 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-15563485-C-T?dataset=gnomad_r3", "id": "4-15563485-C-T", "variant": "4:15563485 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-15563485-C-T?dataset=gnomad_r4", "id": "4-15563485-C-T", "variant": "4:15563485 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 15563485, "referenceAllele": "C", "start": 15563484 } ], "hgvs": [ "NC_000004.12:g.15563485C>T", "CM000666.2:g.15563485C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 15565108, "referenceAllele": "C", "start": 15565107 } ], "hgvs": [ "NC_000004.11:g.15565108C>T", "CM000666.1:g.15565108C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 15174206, "referenceAllele": "C", "start": 15174205 } ], "hgvs": [ "NC_000004.10:g.15174206C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 98620, "referenceAllele": "C", "start": 98619 } ], "hgvs": [ "NG_013035.1:g.98620C>T", "LRG_697:g.98620C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002679" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3178, "referenceAllele": "C", "start": 3177 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000389652.11:c.3160C>T" ], "proteinEffect": { "hgvs": "ENSP00000374303.8:p.Arg1054Ter", "hgvsWellDefined": "ENSP00000374303.8:p.Arg1054_Arg1632delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysMetSerAsnMetLeuLysLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752828" }, { "coordinates": [ { "allele": "T", "end": 3339, "referenceAllele": "C", "start": 3338 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000424120.6:c.3145C>T" ], "proteinEffect": { "hgvs": "ENSP00000403465.1:p.Arg1049Ter", "hgvsWellDefined": "ENSP00000403465.1:p.Arg1049_Arg1620delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755016", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424120.6:c.3145C>T" }, "RefSeq": { "hgvs": "NM_001378615.1:c.3145C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000403465.1:p.Arg1049Ter" }, "RefSeq": { "hgvs": "NP_001365544.1:p.Arg1049Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3384, "referenceAllele": "C", "start": 3383 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000503292.6:c.3145C>T" ], "proteinEffect": { "hgvs": "ENSP00000421809.1:p.Arg1049Ter", "hgvsWellDefined": "ENSP00000421809.1:p.Arg1049_Arg1620delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757970" }, { "coordinates": [ { "allele": "T", "end": 3147, "referenceAllele": "C", "start": 3146 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000506643.5:c.2998C>T" ], "proteinEffect": { "hgvs": "ENSP00000422931.2:p.Arg1000Ter", "hgvsWellDefined": "ENSP00000422931.2:p.Arg1000_Arg1571delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758090" }, { "coordinates": [ { "allele": "T", "end": 2998, "referenceAllele": "C", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000634028.2:c.2998C>T" ], "proteinEffect": { "hgvs": "ENSP00000488669.2:p.Arg1000Ter", "hgvsWellDefined": "ENSP00000488669.2:p.Arg1000_Ala1411delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnAlaGlnAlaMetGluIlePheLeuPheLysLysProSerIleSerTrpProPheGlnCysSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762552" }, { "coordinates": [ { "allele": "T", "end": 3180, "referenceAllele": "C", "start": 3179 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000650860.2:c.*151C>T" ], "proteinEffect": { "hgvs": "ENSP00000498775.1:n.*151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS771356" }, { "coordinates": [ { "allele": "T", "end": 3147, "referenceAllele": "C", "start": 3146 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000674945.1:c.2998C>T" ], "proteinEffect": { "hgvs": "ENSP00000502333.1:p.Arg1000Ter", "hgvsWellDefined": "ENSP00000502333.1:p.Arg1000_Arg1512delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774829" }, { "coordinates": [ { "allele": "T", "end": 3956, "referenceAllele": "C", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000675619.1:n.3956C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775412" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "C", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000675768.1:n.365C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775541" }, { "coordinates": [ { "allele": "T", "end": 3395, "referenceAllele": "C", "start": 3394 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000676337.1:c.*151C>T" ], "proteinEffect": { "hgvs": "ENSP00000501728.1:n.*151C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776031" }, { "coordinates": [ { "allele": "T", "end": 3804, "referenceAllele": "C", "start": 3803 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000680586.1:n.3804C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780201" }, { "coordinates": [ { "allele": "T", "end": 2622, "referenceAllele": "C", "start": 2621 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000389652.9:c.2622C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS274259" }, { "coordinates": [ { "allele": "T", "end": 3399, "referenceAllele": "C", "start": 3398 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000424120.5:c.3145C>T" ], "proteinEffect": { "hgvs": "ENSP00000403465.1:p.Arg1049Ter", "hgvsWellDefined": "ENSP00000403465.1:p.Arg1049_Arg1620delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288102" }, { "coordinates": [ { "allele": "T", "end": 3325, "referenceAllele": "C", "start": 3324 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000503292.5:c.3145C>T" ], "proteinEffect": { "hgvs": "ENSP00000421809.1:p.Arg1049Ter", "hgvsWellDefined": "ENSP00000421809.1:p.Arg1049_Arg1620delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS335642" }, { "coordinates": [ { "allele": "T", "end": 1473, "referenceAllele": "C", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000506643.4:c.1473C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS338144" }, { "coordinates": [ { "allele": "T", "end": 3128, "referenceAllele": "C", "start": 3127 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000634028.1:c.3128C>T" ], "proteinEffect": { "hgvs": "ENSP00000488669.1:n.3128C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407732" }, { "@id": "http://reg.genome.network/allele/PA129546", "coordinates": [ { "allele": "T", "end": 3390, "referenceAllele": "C", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001080522.2:c.3145C>T", "LRG_697t1:c.3145C>T" ], "proteinEffect": { "hgvs": "NP_001073991.2:p.Arg1049Ter", "hgvsWellDefined": "NP_001073991.2:p.Arg1049_Arg1620delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010272" }, { "coordinates": [ { "allele": "T", "end": 3345, "referenceAllele": "C", "start": 3344 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_005248177.1:c.3145C>T" ], "proteinEffect": { "hgvs": "XP_005248234.1:p.Arg1049Ter", "hgvsWellDefined": "XP_005248234.1:p.Arg1049_Arg1620delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058339" }, { "coordinates": [ { "allele": "T", "end": 3345, "referenceAllele": "C", "start": 3344 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513869.1:c.3145C>T" ], "proteinEffect": { "hgvs": "XP_011512171.1:p.Arg1049Ter", "hgvsWellDefined": "XP_011512171.1:p.Arg1049_Arg1626delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081101" }, { "coordinates": [ { "allele": "T", "end": 3217, "referenceAllele": "C", "start": 3216 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513870.1:c.3145C>T" ], "proteinEffect": { "hgvs": "XP_011512172.1:p.Arg1049Ter", "hgvsWellDefined": "XP_011512172.1:p.Arg1049_Arg1626delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081102" }, { "coordinates": [ { "allele": "T", "end": 3139, "referenceAllele": "C", "start": 3138 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513871.1:c.2998C>T" ], "proteinEffect": { "hgvs": "XP_011512173.1:p.Arg1000Ter", "hgvsWellDefined": "XP_011512173.1:p.Arg1000_Arg1577delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081103" }, { "coordinates": [ { "allele": "T", "end": 3139, "referenceAllele": "C", "start": 3138 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_017008482.1:c.2998C>T" ], "proteinEffect": { "hgvs": "XP_016863971.1:p.Arg1000Ter", "hgvsWellDefined": "XP_016863971.1:p.Arg1000_Arg1571delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562982" }, { "coordinates": [ { "allele": "T", "end": 3390, "referenceAllele": "C", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XR_001741296.1:n.3390C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591311" }, { "@id": "http://reg.genome.network/allele/PA2573075290", "coordinates": [ { "allele": "T", "end": 3339, "referenceAllele": "C", "start": 3338 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378615.1:c.3145C>T" ], "proteinEffect": { "hgvs": "NP_001365544.1:p.Arg1049Ter", "hgvsWellDefined": "NP_001365544.1:p.Arg1049_Arg1620delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721805", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424120.6:c.3145C>T" }, "RefSeq": { "hgvs": "NM_001378615.1:c.3145C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000403465.1:p.Arg1049Ter" }, "RefSeq": { "hgvs": "NP_001365544.1:p.Arg1049Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828787462", "coordinates": [ { "allele": "T", "end": 3139, "referenceAllele": "C", "start": 3138 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378617.1:c.2998C>T" ], "proteinEffect": { "hgvs": "NP_001365546.1:p.Arg1000Ter", "hgvsWellDefined": "NP_001365546.1:p.Arg1000_Arg1571delinsAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721806" } ], "type": "nucleotide" }