{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA144217", "communityStandardTitle": [ "NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70939[alleleid]", "alleleId": 70939, "preferredName": "NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56300", "RCV": [ "RCV000049712", "RCV000778721", "RCV001753469", "RCV001853048" ], "variationId": 56300 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-15559074-C-T", "id": "4-15559074-C-T", "variant": "4:15559074 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.15559074C>T?assembly=hg19", "id": "chr4:g.15559074C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.15557451C>T?assembly=hg38", "id": "chr4:g.15557451C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/386833748", "rs": 386833748 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-15559074-C-T?dataset=gnomad_r2_1", "id": "4-15559074-C-T", "variant": "4:15559074 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-15557451-C-T?dataset=gnomad_r3", "id": "4-15557451-C-T", "variant": "4:15557451 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-15557451-C-T?dataset=gnomad_r4", "id": "4-15557451-C-T", "variant": "4:15557451 C / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 15557451, "referenceAllele": "C", "start": 15557450 } ], "hgvs": [ "NC_000004.12:g.15557451C>T", "CM000666.2:g.15557451C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 15559074, "referenceAllele": "C", "start": 15559073 } ], "hgvs": [ "NC_000004.11:g.15559074C>T", "CM000666.1:g.15559074C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 15168172, "referenceAllele": "C", "start": 15168171 } ], "hgvs": [ "NC_000004.10:g.15168172C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 92586, "referenceAllele": "C", "start": 92585 } ], "hgvs": [ "NG_013035.1:g.92586C>T", "LRG_697:g.92586C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002679" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2791, "referenceAllele": "C", "start": 2790 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000389652.11:c.2773C>T" ], "proteinEffect": { "hgvs": "ENSP00000374303.8:p.Arg925Ter", "hgvsWellDefined": "ENSP00000374303.8:p.Arg925_Arg1632delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerSerGluGlySerGlyIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysMetSerAsnMetLeuLysLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752828" }, { "coordinates": [ { "allele": "T", "end": 2967, "referenceAllele": "C", "start": 2966 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000424120.6:c.2773C>T" ], "proteinEffect": { "hgvs": "ENSP00000403465.1:p.Arg925Ter", "hgvsWellDefined": "ENSP00000403465.1:p.Arg925_Arg1620delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755016", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424120.6:c.2773C>T" }, "RefSeq": { "hgvs": "NM_001378615.1:c.2773C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000403465.1:p.Arg925Ter" }, "RefSeq": { "hgvs": "NP_001365544.1:p.Arg925Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3012, "referenceAllele": "C", "start": 3011 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000503292.6:c.2773C>T" ], "proteinEffect": { "hgvs": "ENSP00000421809.1:p.Arg925Ter", "hgvsWellDefined": "ENSP00000421809.1:p.Arg925_Arg1620delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757970" }, { "coordinates": [ { "allele": "T", "end": 2775, "referenceAllele": "C", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000506643.5:c.2626C>T" ], "proteinEffect": { "hgvs": "ENSP00000422931.2:p.Arg876Ter", "hgvsWellDefined": "ENSP00000422931.2:p.Arg876_Arg1571delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758090" }, { "coordinates": [ { "allele": "T", "end": 2626, "referenceAllele": "C", "start": 2625 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000634028.2:c.2626C>T" ], "proteinEffect": { "hgvs": "ENSP00000488669.2:p.Arg876Ter", "hgvsWellDefined": "ENSP00000488669.2:p.Arg876_Ala1411delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnAlaGlnAlaMetGluIlePheLeuPheLysLysProSerIleSerTrpProPheGlnCysSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762552" }, { "coordinates": [ { "allele": "T", "end": 2763, "referenceAllele": "C", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000650860.2:c.2626C>T" ], "proteinEffect": { "hgvs": "ENSP00000498775.1:p.Arg876Ter", "hgvsWellDefined": "ENSP00000498775.1:p.Arg876_Ser963delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgProPhePhePheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771356" }, { "coordinates": [ { "allele": "T", "end": 2775, "referenceAllele": "C", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000674945.1:c.2626C>T" ], "proteinEffect": { "hgvs": "ENSP00000502333.1:p.Arg876Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS335642" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000506643.4:c.1101C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS338144" }, { "coordinates": [ { "allele": "T", "end": 2756, "referenceAllele": "C", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "ENST00000634028.1:c.2756C>T" ], "proteinEffect": { "hgvs": "ENSP00000488669.1:n.2756C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407732" }, { "@id": "http://reg.genome.network/allele/PA144219", "coordinates": [ { "allele": "T", "end": 3018, "referenceAllele": "C", "start": 3017 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS010272" }, { "coordinates": [ { "allele": "T", "end": 2973, "referenceAllele": "C", "start": 2972 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_005248177.1:c.2773C>T" ], "proteinEffect": { "hgvs": "XP_005248234.1:p.Arg925Ter", "hgvsWellDefined": "XP_005248234.1:p.Arg925_Arg1620delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058339" }, { "coordinates": [ { "allele": "T", "end": 2973, "referenceAllele": "C", "start": 2972 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513869.1:c.2773C>T" ], "proteinEffect": { "hgvs": "XP_011512171.1:p.Arg925Ter", "hgvsWellDefined": "XP_011512171.1:p.Arg925_Arg1626delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081101" }, { "coordinates": [ { "allele": "T", "end": 2845, "referenceAllele": "C", "start": 2844 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513870.1:c.2773C>T" ], "proteinEffect": { "hgvs": "XP_011512172.1:p.Arg925Ter", "hgvsWellDefined": "XP_011512172.1:p.Arg925_Arg1626delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081102" }, { "coordinates": [ { "allele": "T", "end": 2767, "referenceAllele": "C", "start": 2766 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513871.1:c.2626C>T" ], "proteinEffect": { "hgvs": "XP_011512173.1:p.Arg876Ter", "hgvsWellDefined": "XP_011512173.1:p.Arg876_Arg1577delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081103" }, { "coordinates": [ { "allele": "T", "end": 2973, "referenceAllele": "C", "start": 2972 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513872.1:c.2773C>T" ], "proteinEffect": { "hgvs": "XP_011512174.1:p.Arg925Ter", "hgvsWellDefined": "XP_011512174.1:p.Arg925_His1013delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgValLeuIleLeuPheCysAsnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081104" }, { "coordinates": [ { "allele": "T", "end": 2973, "referenceAllele": "C", "start": 2972 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513873.1:c.2773C>T" ], "proteinEffect": { "hgvs": "XP_011512175.1:p.Arg925Ter", "hgvsWellDefined": "XP_011512175.1:p.Arg925_Ser1012delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgProPhePhePheLeuGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081105" }, { "coordinates": [ { "allele": "T", "end": 2973, "referenceAllele": "C", "start": 2972 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_011513872.3:c.2773C>T" ], "proteinEffect": { "hgvs": "XP_011512174.1:p.Arg925Ter", "hgvsWellDefined": "XP_011512174.1:p.Arg925_His1013delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgValLeuIleLeuPheCysAsnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543070" }, { "coordinates": [ { "allele": "T", "end": 2767, "referenceAllele": "C", "start": 2766 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XM_017008482.1:c.2626C>T" ], "proteinEffect": { "hgvs": "XP_016863971.1:p.Arg876Ter", "hgvsWellDefined": "XP_016863971.1:p.Arg876_Arg1571delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562982" }, { "coordinates": [ { "allele": "T", "end": 2973, "referenceAllele": "C", "start": 2972 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "XR_001741296.1:n.2973C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591311" }, { "@id": "http://reg.genome.network/allele/PA2573075270", "coordinates": [ { "allele": "T", "end": 2967, "referenceAllele": "C", "start": 2966 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378615.1:c.2773C>T" ], "proteinEffect": { "hgvs": "NP_001365544.1:p.Arg925Ter", "hgvsWellDefined": "NP_001365544.1:p.Arg925_Arg1620delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721805", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424120.6:c.2773C>T" }, "RefSeq": { "hgvs": "NM_001378615.1:c.2773C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000403465.1:p.Arg925Ter" }, "RefSeq": { "hgvs": "NP_001365544.1:p.Arg925Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828787233", "coordinates": [ { "allele": "T", "end": 2767, "referenceAllele": "C", "start": 2766 } ], "gene": "http://reg.genome.network/gene/GN029253", "geneNCBI_id": 57545, "geneSymbol": "CC2D2A", "hgvs": [ "NM_001378617.1:c.2626C>T" ], "proteinEffect": { "hgvs": "NP_001365546.1:p.Arg876Ter", "hgvsWellDefined": "NP_001365546.1:p.Arg876_Arg1571delinsAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721806" } ], "type": "nucleotide" }