{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2864176",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273009[alleleid]",
        "alleleId": 273009,
        "preferredName": "NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288772",
        "RCV": [
          "RCV000726221",
          "RCV001079142",
          "RCV001146759",
          "RCV001146760",
          "RCV004535415"
        ],
        "variationId": 288772
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-15570997-G-T",
        "id": "4-15570997-G-T",
        "variant": "4:15570997 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15570997G>T?assembly=hg19",
        "id": "chr4:g.15570997G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15569374G>T?assembly=hg38",
        "id": "chr4:g.15569374G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771914973",
        "rs": 771914973
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15570997-G-T?dataset=gnomad_r2_1",
        "id": "4-15570997-G-T",
        "variant": "4:15570997 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15569374-G-T?dataset=gnomad_r3",
        "id": "4-15569374-G-T",
        "variant": "4:15569374 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15569374-G-T?dataset=gnomad_r4",
        "id": "4-15569374-G-T",
        "variant": "4:15569374 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15569374,
          "referenceAllele": "G",
          "start": 15569373
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15569374G>T",
        "CM000666.2:g.15569374G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15570997,
          "referenceAllele": "G",
          "start": 15570996
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15570997G>T",
        "CM000666.1:g.15570997G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15180095,
          "referenceAllele": "G",
          "start": 15180094
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15180095G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104509,
          "referenceAllele": "G",
          "start": 104508
        }
      ],
      "hgvs": [
        "NG_013035.1:g.104509G>T",
        "LRG_697:g.104509G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3513,
          "referenceAllele": "G",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.3495G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Leu1165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3674,
          "referenceAllele": "G",
          "start": 3673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.3480G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Leu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3480G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3480G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Leu1160="
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Leu1160="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3719,
          "referenceAllele": "G",
          "start": 3718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.3480G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Leu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3482,
          "referenceAllele": "G",
          "start": 3481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.3333G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Leu1111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3333,
          "referenceAllele": "G",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.3333G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:p.Leu1111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3515,
          "referenceAllele": "G",
          "start": 3514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000650860.2:c.*486G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498775.1:n.*486G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3482,
          "referenceAllele": "G",
          "start": 3481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000674945.1:c.3333G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502333.1:p.Leu1111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4291,
          "referenceAllele": "G",
          "start": 4290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675619.1:n.4291G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000675768.1:n.700G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3730,
          "referenceAllele": "G",
          "start": 3729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000676337.1:c.*486G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501728.1:n.*486G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4139,
          "referenceAllele": "G",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000680586.1:n.4139G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2957,
          "referenceAllele": "G",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.9:c.2957G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3734,
          "referenceAllele": "G",
          "start": 3733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.5:c.3480G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Leu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3660,
          "referenceAllele": "G",
          "start": 3659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.5:c.3480G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Leu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1808,
          "referenceAllele": "G",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.4:c.1808G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3463,
          "referenceAllele": "G",
          "start": 3462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.1:c.3463G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.1:n.3463G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825472400",
      "coordinates": [
        {
          "allele": "T",
          "end": 3725,
          "referenceAllele": "G",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001080522.2:c.3480G>T",
        "LRG_697t1:c.3480G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073991.2:p.Leu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3680,
          "referenceAllele": "G",
          "start": 3679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_005248177.1:c.3480G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248234.1:p.Leu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3680,
          "referenceAllele": "G",
          "start": 3679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513869.1:c.3480G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512171.1:p.Leu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "referenceAllele": "G",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513870.1:c.3480G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512172.1:p.Leu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3474,
          "referenceAllele": "G",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_011513871.1:c.3333G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512173.1:p.Leu1111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3474,
          "referenceAllele": "G",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XM_017008482.1:c.3333G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863971.1:p.Leu1111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3725,
          "referenceAllele": "G",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XR_001741296.1:n.3725G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828796736",
      "coordinates": [
        {
          "allele": "T",
          "end": 3674,
          "referenceAllele": "G",
          "start": 3673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.3480G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Leu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.3480G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.3480G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Leu1160="
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Leu1160="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828787679",
      "coordinates": [
        {
          "allele": "T",
          "end": 3474,
          "referenceAllele": "G",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.3333G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Leu1111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}