{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210343",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1725854",
        "active": true,
        "id": "COSM1725854"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1725855",
        "active": true,
        "id": "COSM1725855"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15787[alleleid]",
        "alleleId": 15787,
        "preferredName": "NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/748",
        "RCV": [
          "RCV000000784",
          "RCV000201781",
          "RCV000729670",
          "RCV001383566"
        ],
        "variationId": 748
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-15569358-C-T",
        "id": "4-15569358-C-T",
        "variant": "4:15569358 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15569358C>T?assembly=hg19",
        "id": "chr4:g.15569358C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15567735C>T?assembly=hg38",
        "id": "chr4:g.15567735C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606709",
        "rs": 267606709
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15569358-C-T?dataset=gnomad_r2_1",
        "id": "4-15569358-C-T",
        "variant": "4:15569358 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15567735-C-T?dataset=gnomad_r3",
        "id": "4-15567735-C-T",
        "variant": "4:15567735 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15567735-C-T?dataset=gnomad_r4",
        "id": "4-15567735-C-T",
        "variant": "4:15567735 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15567735,
          "referenceAllele": "C",
          "start": 15567734
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15567735C>T",
        "CM000666.2:g.15567735C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15569358,
          "referenceAllele": "C",
          "start": 15569357
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15569358C>T",
        "CM000666.1:g.15569358C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15178456,
          "referenceAllele": "C",
          "start": 15178455
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15178456C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102870,
          "referenceAllele": "C",
          "start": 102869
        }
      ],
      "hgvs": [
        "NG_013035.1:g.102870C>T",
        "LRG_697:g.102870C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3380,
          "referenceAllele": "C",
          "start": 3379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.3362C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Thr1121Met",
        "hgvsWellDefined": "ENSP00000374303.8:p.Thr1121Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3541,
          "referenceAllele": "C",
          "start": 3540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Thr1116Met",
        "hgvsWellDefined": "ENSP00000403465.1:p.Thr1116Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3347C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3347C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Thr1116Met"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Thr1116Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3586,
          "referenceAllele": "C",
          "start": 3585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Thr1116Met",
        "hgvsWellDefined": "ENSP00000421809.1:p.Thr1116Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3349,
          "referenceAllele": "C",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.3200C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Thr1067Met",
        "hgvsWellDefined": "ENSP00000422931.2:p.Thr1067Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3200,
          "referenceAllele": "C",
          "start": 3199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.3200C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:p.Thr1067Met",
        "hgvsWellDefined": "ENSP00000488669.2:p.Thr1067Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3382,
          "referenceAllele": "C",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000650860.2:c.*353C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498775.1:n.*353C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3349,
          "referenceAllele": "C",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000674945.1:c.3200C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502333.1:p.Thr1067Met",
        "hgvsWellDefined": "ENSP00000502333.1:p.Thr1067Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4158,
          "referenceAllele": "C",
          "start": 4157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675619.1:n.4158C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675768.1:n.567C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3597,
          "referenceAllele": "C",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000676337.1:c.*353C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501728.1:n.*353C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4006,
          "referenceAllele": "C",
          "start": 4005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000680586.1:n.4006C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "referenceAllele": "C",
          "start": 2823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.9:c.2824C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3601,
          "referenceAllele": "C",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.5:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Thr1116Met",
        "hgvsWellDefined": "ENSP00000403465.1:p.Thr1116Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3527,
          "referenceAllele": "C",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.5:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Thr1116Met",
        "hgvsWellDefined": "ENSP00000421809.1:p.Thr1116Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.4:c.1675C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3330,
          "referenceAllele": "C",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.1:c.3330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.1:n.3330C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097849",
      "coordinates": [
        {
          "allele": "T",
          "end": 3592,
          "referenceAllele": "C",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001080522.2:c.3347C>T",
        "LRG_697t1:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073991.2:p.Thr1116Met",
        "hgvsWellDefined": "NP_001073991.2:p.Thr1116Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3547,
          "referenceAllele": "C",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_005248177.1:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248234.1:p.Thr1116Met",
        "hgvsWellDefined": "XP_005248234.1:p.Thr1116Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3547,
          "referenceAllele": "C",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513869.1:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512171.1:p.Thr1116Met",
        "hgvsWellDefined": "XP_011512171.1:p.Thr1116Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3419,
          "referenceAllele": "C",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513870.1:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512172.1:p.Thr1116Met",
        "hgvsWellDefined": "XP_011512172.1:p.Thr1116Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "C",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513871.1:c.3200C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512173.1:p.Thr1067Met",
        "hgvsWellDefined": "XP_011512173.1:p.Thr1067Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "C",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_017008482.1:c.3200C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863971.1:p.Thr1067Met",
        "hgvsWellDefined": "XP_016863971.1:p.Thr1067Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3592,
          "referenceAllele": "C",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XR_001741296.1:n.3592C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573075602",
      "coordinates": [
        {
          "allele": "T",
          "end": 3541,
          "referenceAllele": "C",
          "start": 3540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Thr1116Met",
        "hgvsWellDefined": "NP_001365544.1:p.Thr1116Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3347C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3347C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Thr1116Met"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Thr1116Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828787611",
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "C",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.3200C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Thr1067Met",
        "hgvsWellDefined": "NP_001365546.1:p.Thr1067Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}