{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4347565",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=700299[alleleid]",
        "alleleId": 700299,
        "preferredName": "NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/772743",
        "RCV": [
          "RCV002252272",
          "RCV002434317",
          "RCV002235775"
        ],
        "variationId": 772743
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-94054939-T-C",
        "id": "7-94054939-T-C",
        "variant": "7:94054939 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94054939T>C?assembly=hg19",
        "id": "chr7:g.94054939T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94425627T>C?assembly=hg38",
        "id": "chr7:g.94425627T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751960243",
        "rs": 751960243
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94054939-T-C?dataset=gnomad_r2_1",
        "id": "7-94054939-T-C",
        "variant": "7:94054939 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94425627-T-C?dataset=gnomad_r3",
        "id": "7-94425627-T-C",
        "variant": "7:94425627 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94425627-T-C?dataset=gnomad_r4",
        "id": "7-94425627-T-C",
        "variant": "7:94425627 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 94425627,
          "referenceAllele": "T",
          "start": 94425626
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94425627T>C",
        "CM000669.2:g.94425627T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 94054939,
          "referenceAllele": "T",
          "start": 94054938
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94054939T>C",
        "CM000669.1:g.94054939T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 93892875,
          "referenceAllele": "T",
          "start": 93892874
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93892875T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36067,
          "referenceAllele": "T",
          "start": 36066
        }
      ],
      "hgvs": [
        "NG_007405.1:g.36067T>C",
        "LRG_2:g.36067T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2936,
          "referenceAllele": "T",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.2799T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Asp933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2799T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2799T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Asp933="
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Asp933="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3270,
          "referenceAllele": "T",
          "start": 3269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.2799T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Asp933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 582,
          "referenceAllele": "T",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000469732.1:n.582T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000478215.1:n.358T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2772,
          "referenceAllele": "T",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000481570.5:n.2772T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2911,
          "referenceAllele": "T",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.2793T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:p.Asp931="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825056386",
      "coordinates": [
        {
          "allele": "C",
          "end": 3270,
          "referenceAllele": "T",
          "start": 3269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.2799T>C",
        "LRG_2t1:c.2799T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Asp933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825056386",
      "coordinates": [
        {
          "allele": "C",
          "end": 2936,
          "referenceAllele": "T",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.2799T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Asp933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2799T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2799T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Asp933="
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Asp933="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}