{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4346769",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.693+12C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=311968[alleleid]",
        "alleleId": 311968,
        "preferredName": "NM_000089.4(COL1A2):c.693+12C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/360947",
        "RCV": [
          "RCV000284363",
          "RCV000339365",
          "RCV003766072"
        ],
        "variationId": 360947
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-94037560-C-A",
        "id": "7-94037560-C-A",
        "variant": "7:94037560 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94037560C>A?assembly=hg19",
        "id": "chr7:g.94037560C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94408248C>A?assembly=hg38",
        "id": "chr7:g.94408248C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767990110",
        "rs": 767990110
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94037560-C-A?dataset=gnomad_r2_1",
        "id": "7-94037560-C-A",
        "variant": "7:94037560 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94408248-C-A?dataset=gnomad_r3",
        "id": "7-94408248-C-A",
        "variant": "7:94408248 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94408248-C-A?dataset=gnomad_r4",
        "id": "7-94408248-C-A",
        "variant": "7:94408248 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94408248,
          "referenceAllele": "C",
          "start": 94408247
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94408248C>A",
        "CM000669.2:g.94408248C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94037560,
          "referenceAllele": "C",
          "start": 94037559
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94037560C>A",
        "CM000669.1:g.94037560C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 93875496,
          "referenceAllele": "C",
          "start": 93875495
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93875496C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18688,
          "referenceAllele": "C",
          "start": 18687
        }
      ],
      "hgvs": [
        "NG_007405.1:g.18688C>A",
        "LRG_2:g.18688C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 830,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.693+12C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:n.693+12C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.693+12C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.693+12C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:n.693+12C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:n.693+12C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1164,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.693+12C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:n.693+12C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 805,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.687+12C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:n.687+12C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1164,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.693+12C>A",
        "LRG_2t1:c.693+12C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:n.693+12C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "endIntronDirection": "+",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 830,
          "startIntronDirection": "+",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.693+12C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:n.693+12C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.693+12C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.693+12C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:n.693+12C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:n.693+12C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}