{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279438",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214180[alleleid]",
        "alleleId": 214180,
        "preferredName": "NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217598",
        "RCV": [
          "RCV000201640",
          "RCV003330577"
        ],
        "variationId": 217598
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15570969T>C?assembly=hg19",
        "id": "chr4:g.15570969T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15569346T>C?assembly=hg38",
        "id": "chr4:g.15569346T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225170",
        "rs": 863225170
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15570969-T-C?dataset=gnomad_r2_1",
        "id": "4-15570969-T-C",
        "variant": "4:15570969 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15569346-T-C?dataset=gnomad_r3",
        "id": "4-15569346-T-C",
        "variant": "4:15569346 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15569346-T-C?dataset=gnomad_r4",
        "id": "4-15569346-T-C",
        "variant": "4:15569346 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 15569346,
          "referenceAllele": "T",
          "start": 15569345
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15569346T>C",
        "CM000666.2:g.15569346T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 15570969,
          "referenceAllele": "T",
          "start": 15570968
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15570969T>C",
        "CM000666.1:g.15570969T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 15180067,
          "referenceAllele": "T",
          "start": 15180066
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15180067T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104481,
          "referenceAllele": "T",
          "start": 104480
        }
      ],
      "hgvs": [
        "NG_013035.1:g.104481T>C",
        "LRG_697:g.104481T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3485,
          "referenceAllele": "T",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.3467T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Val1156Ala",
        "hgvsWellDefined": "ENSP00000374303.8:p.Val1156Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3646,
          "referenceAllele": "T",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.3452T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Val1151Ala",
        "hgvsWellDefined": "ENSP00000403465.1:p.Val1151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3452T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3452T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Val1151Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Val1151Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3691,
          "referenceAllele": "T",
          "start": 3690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.3452T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Val1151Ala",
        "hgvsWellDefined": "ENSP00000421809.1:p.Val1151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3454,
          "referenceAllele": "T",
          "start": 3453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.3305T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Val1102Ala",
        "hgvsWellDefined": "ENSP00000422931.2:p.Val1102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3305,
          "referenceAllele": "T",
          "start": 3304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.3305T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:p.Val1102Ala",
        "hgvsWellDefined": "ENSP00000488669.2:p.Val1102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3487,
          "referenceAllele": "T",
          "start": 3486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000650860.2:c.*458T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498775.1:n.*458T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3454,
          "referenceAllele": "T",
          "start": 3453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000674945.1:c.3305T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502333.1:p.Val1102Ala",
        "hgvsWellDefined": "ENSP00000502333.1:p.Val1102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4263,
          "referenceAllele": "T",
          "start": 4262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675619.1:n.4263T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "referenceAllele": "T",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675768.1:n.672T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3702,
          "referenceAllele": "T",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000676337.1:c.*458T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501728.1:n.*458T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4111,
          "referenceAllele": "T",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000680586.1:n.4111T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2929,
          "referenceAllele": "T",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.9:c.2929T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3706,
          "referenceAllele": "T",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.5:c.3452T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Val1151Ala",
        "hgvsWellDefined": "ENSP00000403465.1:p.Val1151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3632,
          "referenceAllele": "T",
          "start": 3631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.5:c.3452T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Val1151Ala",
        "hgvsWellDefined": "ENSP00000421809.1:p.Val1151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1780,
          "referenceAllele": "T",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.4:c.1780T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3435,
          "referenceAllele": "T",
          "start": 3434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.1:c.3435T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.1:n.3435T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279440",
      "coordinates": [
        {
          "allele": "C",
          "end": 3697,
          "referenceAllele": "T",
          "start": 3696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001080522.2:c.3452T>C",
        "LRG_697t1:c.3452T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073991.2:p.Val1151Ala",
        "hgvsWellDefined": "NP_001073991.2:p.Val1151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3652,
          "referenceAllele": "T",
          "start": 3651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_005248177.1:c.3452T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248234.1:p.Val1151Ala",
        "hgvsWellDefined": "XP_005248234.1:p.Val1151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3652,
          "referenceAllele": "T",
          "start": 3651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513869.1:c.3452T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512171.1:p.Val1151Ala",
        "hgvsWellDefined": "XP_011512171.1:p.Val1151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3524,
          "referenceAllele": "T",
          "start": 3523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513870.1:c.3452T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512172.1:p.Val1151Ala",
        "hgvsWellDefined": "XP_011512172.1:p.Val1151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3446,
          "referenceAllele": "T",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513871.1:c.3305T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512173.1:p.Val1102Ala",
        "hgvsWellDefined": "XP_011512173.1:p.Val1102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3446,
          "referenceAllele": "T",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_017008482.1:c.3305T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863971.1:p.Val1102Ala",
        "hgvsWellDefined": "XP_016863971.1:p.Val1102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3697,
          "referenceAllele": "T",
          "start": 3696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XR_001741296.1:n.3697T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573075608",
      "coordinates": [
        {
          "allele": "C",
          "end": 3646,
          "referenceAllele": "T",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.3452T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Val1151Ala",
        "hgvsWellDefined": "NP_001365544.1:p.Val1151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3452T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3452T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Val1151Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Val1151Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828787660",
      "coordinates": [
        {
          "allele": "C",
          "end": 3446,
          "referenceAllele": "T",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.3305T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Val1102Ala",
        "hgvsWellDefined": "NP_001365546.1:p.Val1102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}