{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10607039",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4541805",
        "active": true,
        "id": "COSM4541805"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4541806",
        "active": true,
        "id": "COSM4541806"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275388[alleleid]",
        "alleleId": 275388,
        "preferredName": "NM_001378615.1(CC2D2A):c.3072G>A (p.Arg1024=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291151",
        "RCV": [
          "RCV000372517",
          "RCV002518162"
        ],
        "variationId": 291151
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15565035G>A?assembly=hg19",
        "id": "chr4:g.15565035G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15563412G>A?assembly=hg38",
        "id": "chr4:g.15563412G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886044669",
        "rs": 886044669
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15563412-G-A?dataset=gnomad_r3",
        "id": "4-15563412-G-A",
        "variant": "4:15563412 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15563412-G-A?dataset=gnomad_r4",
        "id": "4-15563412-G-A",
        "variant": "4:15563412 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 15563412,
          "referenceAllele": "G",
          "start": 15563411
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15563412G>A",
        "CM000666.2:g.15563412G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 15565035,
          "referenceAllele": "G",
          "start": 15565034
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15565035G>A",
        "CM000666.1:g.15565035G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 15174133,
          "referenceAllele": "G",
          "start": 15174132
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15174133G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98547,
          "referenceAllele": "G",
          "start": 98546
        }
      ],
      "hgvs": [
        "NG_013035.1:g.98547G>A",
        "LRG_697:g.98547G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3105,
          "referenceAllele": "G",
          "start": 3104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Arg1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3266,
          "referenceAllele": "G",
          "start": 3265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.3072G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Arg1024="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3072G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3072G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Arg1024="
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Arg1024="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3311,
          "referenceAllele": "G",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.3072G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Arg1024="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3074,
          "referenceAllele": "G",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.2925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Arg975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2925,
          "referenceAllele": "G",
          "start": 2924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.2925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:p.Arg975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3107,
          "referenceAllele": "G",
          "start": 3106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000650860.2:c.*78G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498775.1:n.*78G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3074,
          "referenceAllele": "G",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000674945.1:c.2925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502333.1:p.Arg975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3883,
          "referenceAllele": "G",
          "start": 3882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675619.1:n.3883G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 292,
          "referenceAllele": "G",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675768.1:n.292G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3322,
          "referenceAllele": "G",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000676337.1:c.*78G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501728.1:n.*78G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3731,
          "referenceAllele": "G",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000680586.1:n.3731G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2549,
          "referenceAllele": "G",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.9:c.2549G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3326,
          "referenceAllele": "G",
          "start": 3325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.5:c.3072G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Arg1024="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3252,
          "referenceAllele": "G",
          "start": 3251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.5:c.3072G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Arg1024="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1400,
          "referenceAllele": "G",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.4:c.1400G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3055,
          "referenceAllele": "G",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.1:c.3055G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.1:n.3055G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825472300",
      "coordinates": [
        {
          "allele": "A",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001080522.2:c.3072G>A",
        "LRG_697t1:c.3072G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073991.2:p.Arg1024="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3272,
          "referenceAllele": "G",
          "start": 3271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_005248177.1:c.3072G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248234.1:p.Arg1024="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3272,
          "referenceAllele": "G",
          "start": 3271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513869.1:c.3072G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512171.1:p.Arg1024="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3144,
          "referenceAllele": "G",
          "start": 3143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513870.1:c.3072G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512172.1:p.Arg1024="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513871.1:c.2925G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512173.1:p.Arg975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3300,
          "referenceAllele": "G",
          "start": 3299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513872.1:c.*58G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512174.1:n.*58G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3300,
          "referenceAllele": "G",
          "start": 3299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513872.3:c.*58G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512174.1:n.*58G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_017008482.1:c.2925G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863971.1:p.Arg975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XR_001741296.1:n.3317G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828796528",
      "coordinates": [
        {
          "allele": "A",
          "end": 3266,
          "referenceAllele": "G",
          "start": 3265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.3072G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Arg1024="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3072G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3072G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Arg1024="
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Arg1024="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828787429",
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.2925G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Arg975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}