{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA210272", "communityStandardTitle": [ "NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214174[alleleid]", "alleleId": 214174, "preferredName": "NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217605", "RCV": [ "RCV000201574" ], "variationId": 217605 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.15556832C>A?assembly=hg19", "id": "chr4:g.15556832C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.15555209C>A?assembly=hg38", "id": "chr4:g.15555209C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200904521", "rs": 200904521 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 15555209, "referenceAllele": "C", "start": 15555208 } ], "hgvs": [ "NC_000004.12:g.15555209C>A", "CM000666.2:g.15555209C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 15556832, "referenceAllele": "C", "start": 15556831 } ], "hgvs": [ "NC_000004.11:g.15556832C>A", "CM000666.1:g.15556832C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 15165930, "referenceAllele": "C", "start": 15165929 } ], "hgvs": [ "NC_000004.10:g.15165930C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 90344, "referenceAllele": "C", "start": 90343 } ], "hgvs": [ "NG_013035.1:g.90344C>A", "LRG_697:g.90344C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002679" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2642, "referenceAllele": "C", "start": 2641 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000389652.11:c.2624C>A" ], "proteinEffect": { "hgvs": "ENSP00000374303.8:p.Ser875Ter", "hgvsWellDefined": "ENSP00000374303.8:p.Ser875_Arg1632delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerSerGluGlySerGlyIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysMetSerAsnMetLeuLysLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752828" }, { "coordinates": [ { "allele": "A", "end": 2818, "referenceAllele": "C", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000424120.6:c.2624C>A" ], "proteinEffect": { "hgvs": "ENSP00000403465.1:p.Ser875Ter", "hgvsWellDefined": "ENSP00000403465.1:p.Ser875_Arg1620delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755016", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424120.6:c.2624C>A" }, "RefSeq": { "hgvs": "NM_001378615.1:c.2624C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000403465.1:p.Ser875Ter" }, "RefSeq": { "hgvs": "NP_001365544.1:p.Ser875Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000503292.6:c.2624C>A" ], "proteinEffect": { "hgvs": "ENSP00000421809.1:p.Ser875Ter", "hgvsWellDefined": "ENSP00000421809.1:p.Ser875_Arg1620delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757970" }, { "coordinates": [ { "allele": "A", "end": 2626, "referenceAllele": "C", "start": 2625 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000506643.5:c.2477C>A" ], "proteinEffect": { "hgvs": "ENSP00000422931.2:p.Ser826Ter", "hgvsWellDefined": "ENSP00000422931.2:p.Ser826_Arg1571delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758090" }, { "coordinates": [ { "allele": "A", "end": 2477, "referenceAllele": "C", "start": 2476 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000634028.2:c.2477C>A" ], "proteinEffect": { "hgvs": "ENSP00000488669.2:p.Ser826Ter", "hgvsWellDefined": "ENSP00000488669.2:p.Ser826_Ala1411delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnAlaGlnAlaMetGluIlePheLeuPheLysLysProSerIleSerTrpProPheGlnCysSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762552" }, { "coordinates": [ { "allele": "A", "end": 2614, "referenceAllele": "C", "start": 2613 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000650860.2:c.2477C>A" ], "proteinEffect": { "hgvs": "ENSP00000498775.1:p.Ser826Ter", "hgvsWellDefined": "ENSP00000498775.1:p.Ser826_Ser963delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgProPhePhePheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771356" }, { "coordinates": [ { "allele": "A", "end": 2626, "referenceAllele": "C", "start": 2625 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000674945.1:c.2477C>A" ], "proteinEffect": { "hgvs": "ENSP00000502333.1:p.Ser826Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS058339" }, { "coordinates": [ { "allele": "A", "end": 2824, "referenceAllele": "C", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513869.1:c.2624C>A" ], "proteinEffect": { "hgvs": "XP_011512171.1:p.Ser875Ter", "hgvsWellDefined": "XP_011512171.1:p.Ser875_Arg1626delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081101" }, { "coordinates": [ { "allele": "A", "end": 2696, "referenceAllele": "C", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513870.1:c.2624C>A" ], "proteinEffect": { "hgvs": "XP_011512172.1:p.Ser875Ter", "hgvsWellDefined": "XP_011512172.1:p.Ser875_Arg1626delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081102" }, { "coordinates": [ { "allele": "A", "end": 2618, "referenceAllele": "C", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513871.1:c.2477C>A" ], "proteinEffect": { "hgvs": "XP_011512173.1:p.Ser826Ter", "hgvsWellDefined": "XP_011512173.1:p.Ser826_Arg1577delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081103" }, { "coordinates": [ { "allele": "A", "end": 2824, "referenceAllele": "C", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513872.1:c.2624C>A" ], "proteinEffect": { "hgvs": "XP_011512174.1:p.Ser875Ter", "hgvsWellDefined": "XP_011512174.1:p.Ser875_His1013delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgValLeuIleLeuPheCysAsnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081104" }, { "coordinates": [ { "allele": "A", "end": 2824, "referenceAllele": "C", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513873.1:c.2624C>A" ], "proteinEffect": { "hgvs": "XP_011512175.1:p.Ser875Ter", "hgvsWellDefined": "XP_011512175.1:p.Ser875_Ser1012delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgProPhePhePheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081105" }, { "coordinates": [ { "allele": "A", "end": 2824, "referenceAllele": "C", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513872.3:c.2624C>A" ], "proteinEffect": { "hgvs": "XP_011512174.1:p.Ser875Ter", "hgvsWellDefined": "XP_011512174.1:p.Ser875_His1013delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgValLeuIleLeuPheCysAsnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543070" }, { "coordinates": [ { "allele": "A", "end": 2618, "referenceAllele": "C", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_017008482.1:c.2477C>A" ], "proteinEffect": { "hgvs": "XP_016863971.1:p.Ser826Ter", "hgvsWellDefined": "XP_016863971.1:p.Ser826_Arg1571delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562982" }, { "coordinates": [ { "allele": "A", "end": 2824, "referenceAllele": "C", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XR_001741296.1:n.2824C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591311" }, { "@id": "http://reg.genome.network/allele/PA2573075587", "coordinates": [ { "allele": "A", "end": 2818, "referenceAllele": "C", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378615.1:c.2624C>A" ], "proteinEffect": { "hgvs": "NP_001365544.1:p.Ser875Ter", "hgvsWellDefined": "NP_001365544.1:p.Ser875_Arg1620delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721805", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424120.6:c.2624C>A" }, "RefSeq": { "hgvs": "NM_001378615.1:c.2624C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000403465.1:p.Ser875Ter" }, "RefSeq": { "hgvs": "NP_001365544.1:p.Ser875Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828787159", "coordinates": [ { "allele": "A", "end": 2618, "referenceAllele": "C", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378617.1:c.2477C>A" ], "proteinEffect": { "hgvs": "NP_001365546.1:p.Ser826Ter", "hgvsWellDefined": "NP_001365546.1:p.Ser826_Arg1571delinsValAlaThrSerGlyGluSerTyrValProAspPhePheArgLeuGluGlnLeuGlnGlnGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721806" } ], "type": "nucleotide" }