{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210318",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214194[alleleid]",
        "alleleId": 214194,
        "preferredName": "NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217607",
        "RCV": [
          "RCV000201706",
          "RCV000347415",
          "RCV000286210",
          "RCV000474430",
          "RCV000778102",
          "RCV001266486",
          "RCV001542750",
          "RCV002277554",
          "RCV003317149"
        ],
        "variationId": 217607
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-15601322-A-T",
        "id": "4-15601322-A-T",
        "variant": "4:15601322 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15601322A>T?assembly=hg19",
        "id": "chr4:g.15601322A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15599699A>T?assembly=hg38",
        "id": "chr4:g.15599699A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201502401",
        "rs": 201502401
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15601322-A-T?dataset=gnomad_r2_1",
        "id": "4-15601322-A-T",
        "variant": "4:15601322 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15599699-A-T?dataset=gnomad_r3",
        "id": "4-15599699-A-T",
        "variant": "4:15599699 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15599699-A-T?dataset=gnomad_r4",
        "id": "4-15599699-A-T",
        "variant": "4:15599699 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15599699,
          "referenceAllele": "A",
          "start": 15599698
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15599699A>T",
        "CM000666.2:g.15599699A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15601322,
          "referenceAllele": "A",
          "start": 15601321
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15601322A>T",
        "CM000666.1:g.15601322A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15210420,
          "referenceAllele": "A",
          "start": 15210419
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15210420A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134834,
          "referenceAllele": "A",
          "start": 134833
        }
      ],
      "hgvs": [
        "NG_013035.1:g.134834A>T",
        "LRG_697:g.134834A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4721,
          "referenceAllele": "A",
          "start": 4720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.4703A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Asp1568Val",
        "hgvsWellDefined": "ENSP00000374303.8:p.Asp1568Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4861,
          "referenceAllele": "A",
          "start": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.4667A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Asp1556Val",
        "hgvsWellDefined": "ENSP00000403465.1:p.Asp1556Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.4667A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.4667A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Asp1556Val"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Asp1556Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4906,
          "referenceAllele": "A",
          "start": 4905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.4667A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Asp1556Val",
        "hgvsWellDefined": "ENSP00000421809.1:p.Asp1556Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4669,
          "referenceAllele": "A",
          "start": 4668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.4520A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Asp1507Val",
        "hgvsWellDefined": "ENSP00000422931.2:p.Asp1507Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "A",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000514039.6:c.773A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488534.2:p.Asp258Val",
        "hgvsWellDefined": "ENSP00000488534.2:p.Asp258Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4461,
          "referenceAllele": "A",
          "start": 4460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.4461A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:n.4461A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "A",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000650860.2:c.*2164A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498775.1:n.*2164A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4492,
          "referenceAllele": "A",
          "start": 4491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000674945.1:c.4343A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502333.1:p.Asp1448Val",
        "hgvsWellDefined": "ENSP00000502333.1:p.Asp1448Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5326,
          "referenceAllele": "A",
          "start": 5325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000680586.1:n.5326A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4165,
          "referenceAllele": "A",
          "start": 4164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.9:c.4165A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4921,
          "referenceAllele": "A",
          "start": 4920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.5:c.4667A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Asp1556Val",
        "hgvsWellDefined": "ENSP00000403465.1:p.Asp1556Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4847,
          "referenceAllele": "A",
          "start": 4846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.5:c.4667A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Asp1556Val",
        "hgvsWellDefined": "ENSP00000421809.1:p.Asp1556Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2936,
          "referenceAllele": "A",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.4:c.2936A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000514039.5:c.283A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4473,
          "referenceAllele": "A",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.1:c.4473A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.1:n.4473A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097768",
      "coordinates": [
        {
          "allele": "T",
          "end": 4912,
          "referenceAllele": "A",
          "start": 4911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001080522.2:c.4667A>T",
        "LRG_697t1:c.4667A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073991.2:p.Asp1556Val",
        "hgvsWellDefined": "NP_001073991.2:p.Asp1556Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4867,
          "referenceAllele": "A",
          "start": 4866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_005248177.1:c.4667A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248234.1:p.Asp1556Val",
        "hgvsWellDefined": "XP_005248234.1:p.Asp1556Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4885,
          "referenceAllele": "A",
          "start": 4884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513869.1:c.4685A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512171.1:p.Asp1562Val",
        "hgvsWellDefined": "XP_011512171.1:p.Asp1562Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4757,
          "referenceAllele": "A",
          "start": 4756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513870.1:c.4685A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512172.1:p.Asp1562Val",
        "hgvsWellDefined": "XP_011512172.1:p.Asp1562Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4679,
          "referenceAllele": "A",
          "start": 4678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513871.1:c.4538A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512173.1:p.Asp1513Val",
        "hgvsWellDefined": "XP_011512173.1:p.Asp1513Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4661,
          "referenceAllele": "A",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_017008482.1:c.4520A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863971.1:p.Asp1507Val",
        "hgvsWellDefined": "XP_016863971.1:p.Asp1507Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139744931",
      "coordinates": [
        {
          "allele": "T",
          "end": 4861,
          "referenceAllele": "A",
          "start": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.4667A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Asp1556Val",
        "hgvsWellDefined": "NP_001365544.1:p.Asp1556Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.4667A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.4667A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Asp1556Val"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Asp1556Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828788299",
      "coordinates": [
        {
          "allele": "T",
          "end": 4661,
          "referenceAllele": "A",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.4520A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Asp1507Val",
        "hgvsWellDefined": "NP_001365546.1:p.Asp1507Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}