{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210269",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214177[alleleid]",
        "alleleId": 214177,
        "preferredName": "NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217602",
        "RCV": [
          "RCV000201572",
          "RCV000489696",
          "RCV000702498",
          "RCV000778722",
          "RCV000763524"
        ],
        "variationId": 217602
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-15565018-C-T",
        "id": "4-15565018-C-T",
        "variant": "4:15565018 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15565018C>T?assembly=hg19",
        "id": "chr4:g.15565018C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15563395C>T?assembly=hg38",
        "id": "chr4:g.15563395C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370880399",
        "rs": 370880399
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15565018-C-T?dataset=gnomad_r2_1",
        "id": "4-15565018-C-T",
        "variant": "4:15565018 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15563395-C-T?dataset=gnomad_r3",
        "id": "4-15563395-C-T",
        "variant": "4:15563395 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15563395-C-T?dataset=gnomad_r4",
        "id": "4-15563395-C-T",
        "variant": "4:15563395 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15563395,
          "referenceAllele": "C",
          "start": 15563394
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15563395C>T",
        "CM000666.2:g.15563395C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15565018,
          "referenceAllele": "C",
          "start": 15565017
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15565018C>T",
        "CM000666.1:g.15565018C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15174116,
          "referenceAllele": "C",
          "start": 15174115
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15174116C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98530,
          "referenceAllele": "C",
          "start": 98529
        }
      ],
      "hgvs": [
        "NG_013035.1:g.98530C>T",
        "LRG_697:g.98530C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3088,
          "referenceAllele": "C",
          "start": 3087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.3070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Arg1024Ter",
        "hgvsWellDefined": "ENSP00000374303.8:p.Arg1024_Arg1632delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysMetSerAsnMetLeuLysLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3249,
          "referenceAllele": "C",
          "start": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Arg1019Ter",
        "hgvsWellDefined": "ENSP00000403465.1:p.Arg1019_Arg1620delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3055C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3055C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Arg1019Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Arg1019Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3294,
          "referenceAllele": "C",
          "start": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Arg1019Ter",
        "hgvsWellDefined": "ENSP00000421809.1:p.Arg1019_Arg1620delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3057,
          "referenceAllele": "C",
          "start": 3056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Arg970Ter",
        "hgvsWellDefined": "ENSP00000422931.2:p.Arg970_Arg1571delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2908,
          "referenceAllele": "C",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:p.Arg970Ter",
        "hgvsWellDefined": "ENSP00000488669.2:p.Arg970_Ala1411delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnAlaGlnAlaMetGluIlePheLeuPheLysLysProSerIleSerTrpProPheGlnCysSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3090,
          "referenceAllele": "C",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000650860.2:c.*61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498775.1:n.*61C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3057,
          "referenceAllele": "C",
          "start": 3056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000674945.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502333.1:p.Arg970Ter",
        "hgvsWellDefined": "ENSP00000502333.1:p.Arg970_Arg1512delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3866,
          "referenceAllele": "C",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675619.1:n.3866C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675768.1:n.275C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3305,
          "referenceAllele": "C",
          "start": 3304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000676337.1:c.*61C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501728.1:n.*61C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3714,
          "referenceAllele": "C",
          "start": 3713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000680586.1:n.3714C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2532,
          "referenceAllele": "C",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.9:c.2532C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3309,
          "referenceAllele": "C",
          "start": 3308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.5:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Arg1019Ter",
        "hgvsWellDefined": "ENSP00000403465.1:p.Arg1019_Arg1620delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3235,
          "referenceAllele": "C",
          "start": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.5:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Arg1019Ter",
        "hgvsWellDefined": "ENSP00000421809.1:p.Arg1019_Arg1620delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.4:c.1383C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3038,
          "referenceAllele": "C",
          "start": 3037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.1:c.3038C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.1:n.3038C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210271",
      "coordinates": [
        {
          "allele": "T",
          "end": 3300,
          "referenceAllele": "C",
          "start": 3299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001080522.2:c.3055C>T",
        "LRG_697t1:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073991.2:p.Arg1019Ter",
        "hgvsWellDefined": "NP_001073991.2:p.Arg1019_Arg1620delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_005248177.1:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248234.1:p.Arg1019Ter",
        "hgvsWellDefined": "XP_005248234.1:p.Arg1019_Arg1620delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513869.1:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512171.1:p.Arg1019Ter",
        "hgvsWellDefined": "XP_011512171.1:p.Arg1019_Arg1626delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3127,
          "referenceAllele": "C",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513870.1:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512172.1:p.Arg1019Ter",
        "hgvsWellDefined": "XP_011512172.1:p.Arg1019_Arg1626delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3049,
          "referenceAllele": "C",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513871.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512173.1:p.Arg970Ter",
        "hgvsWellDefined": "XP_011512173.1:p.Arg970_Arg1577delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3283,
          "referenceAllele": "C",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513872.1:c.*41C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512174.1:n.*41C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3283,
          "referenceAllele": "C",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513872.3:c.*41C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512174.1:n.*41C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3049,
          "referenceAllele": "C",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_017008482.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863971.1:p.Arg970Ter",
        "hgvsWellDefined": "XP_016863971.1:p.Arg970_Arg1571delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3300,
          "referenceAllele": "C",
          "start": 3299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XR_001741296.1:n.3300C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828796512",
      "coordinates": [
        {
          "allele": "T",
          "end": 3249,
          "referenceAllele": "C",
          "start": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Arg1019Ter",
        "hgvsWellDefined": "NP_001365544.1:p.Arg1019_Arg1620delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3055C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3055C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Arg1019Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Arg1019Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573075649",
      "coordinates": [
        {
          "allele": "T",
          "end": 3049,
          "referenceAllele": "C",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Arg970Ter",
        "hgvsWellDefined": "NP_001365546.1:p.Arg970_Arg1571delinsProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}