{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279397",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214191[alleleid]",
        "alleleId": 214191,
        "preferredName": "NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217594",
        "RCV": [
          "RCV000201598",
          "RCV003765301"
        ],
        "variationId": 217594
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15591277T>C?assembly=hg19",
        "id": "chr4:g.15591277T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15589654T>C?assembly=hg38",
        "id": "chr4:g.15589654T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225168",
        "rs": 863225168
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 15589654,
          "referenceAllele": "T",
          "start": 15589653
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15589654T>C",
        "CM000666.2:g.15589654T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 15591277,
          "referenceAllele": "T",
          "start": 15591276
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15591277T>C",
        "CM000666.1:g.15591277T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 15200375,
          "referenceAllele": "T",
          "start": 15200374
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15200375T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 124789,
          "referenceAllele": "T",
          "start": 124788
        }
      ],
      "hgvs": [
        "NG_013035.1:g.124789T>C",
        "LRG_697:g.124789T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4343,
          "referenceAllele": "T",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.4325T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Val1442Ala",
        "hgvsWellDefined": "ENSP00000374303.8:p.Val1442Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4483,
          "referenceAllele": "T",
          "start": 4482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.4289T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Val1430Ala",
        "hgvsWellDefined": "ENSP00000403465.1:p.Val1430Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.4289T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.4289T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Val1430Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Val1430Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4528,
          "referenceAllele": "T",
          "start": 4527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.4289T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Val1430Ala",
        "hgvsWellDefined": "ENSP00000421809.1:p.Val1430Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4291,
          "referenceAllele": "T",
          "start": 4290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.4142T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Val1381Ala",
        "hgvsWellDefined": "ENSP00000422931.2:p.Val1381Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 518,
          "referenceAllele": "T",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000514039.6:c.518T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488534.2:p.Val173Ala",
        "hgvsWellDefined": "ENSP00000488534.2:p.Val173Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4142,
          "referenceAllele": "T",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.4142T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:p.Val1381Ala",
        "hgvsWellDefined": "ENSP00000488669.2:p.Val1381Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4815,
          "referenceAllele": "T",
          "start": 4814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000650860.2:c.*1786T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498775.1:n.*1786T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4114,
          "referenceAllele": "T",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000674945.1:c.3965T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502333.1:p.Val1322Ala",
        "hgvsWellDefined": "ENSP00000502333.1:p.Val1322Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1509,
          "referenceAllele": "T",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675768.1:n.1509T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4948,
          "referenceAllele": "T",
          "start": 4947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000680586.1:n.4948T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3787,
          "referenceAllele": "T",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.9:c.3787T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4543,
          "referenceAllele": "T",
          "start": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.5:c.4289T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Val1430Ala",
        "hgvsWellDefined": "ENSP00000403465.1:p.Val1430Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4469,
          "referenceAllele": "T",
          "start": 4468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.5:c.4289T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Val1430Ala",
        "hgvsWellDefined": "ENSP00000421809.1:p.Val1430Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2617,
          "referenceAllele": "T",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.4:c.2617T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28,
          "referenceAllele": "T",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000514039.5:c.28T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4095,
          "referenceAllele": "T",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.1:c.4095T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.1:n.4095T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279399",
      "coordinates": [
        {
          "allele": "C",
          "end": 4534,
          "referenceAllele": "T",
          "start": 4533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001080522.2:c.4289T>C",
        "LRG_697t1:c.4289T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073991.2:p.Val1430Ala",
        "hgvsWellDefined": "NP_001073991.2:p.Val1430Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4489,
          "referenceAllele": "T",
          "start": 4488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_005248177.1:c.4289T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248234.1:p.Val1430Ala",
        "hgvsWellDefined": "XP_005248234.1:p.Val1430Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4507,
          "referenceAllele": "T",
          "start": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513869.1:c.4307T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512171.1:p.Val1436Ala",
        "hgvsWellDefined": "XP_011512171.1:p.Val1436Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4379,
          "referenceAllele": "T",
          "start": 4378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513870.1:c.4307T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512172.1:p.Val1436Ala",
        "hgvsWellDefined": "XP_011512172.1:p.Val1436Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4301,
          "referenceAllele": "T",
          "start": 4300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513871.1:c.4160T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512173.1:p.Val1387Ala",
        "hgvsWellDefined": "XP_011512173.1:p.Val1387Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4283,
          "referenceAllele": "T",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_017008482.1:c.4142T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863971.1:p.Val1381Ala",
        "hgvsWellDefined": "XP_016863971.1:p.Val1381Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573075622",
      "coordinates": [
        {
          "allele": "C",
          "end": 4483,
          "referenceAllele": "T",
          "start": 4482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.4289T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Val1430Ala",
        "hgvsWellDefined": "NP_001365544.1:p.Val1430Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.4289T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.4289T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Val1430Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Val1430Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828788108",
      "coordinates": [
        {
          "allele": "C",
          "end": 4283,
          "referenceAllele": "T",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.4142T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Val1381Ala",
        "hgvsWellDefined": "NP_001365546.1:p.Val1381Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}