{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12515177",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.2673+245T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1230918[alleleid]",
        "alleleId": 1230918,
        "preferredName": "NM_000089.4(COL1A2):c.2673+245T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1242663",
        "RCV": [
          "RCV001641467"
        ],
        "variationId": 1242663
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94054000T>C?assembly=hg19",
        "id": "chr7:g.94054000T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94424688T>C?assembly=hg38",
        "id": "chr7:g.94424688T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/441051",
        "rs": 441051
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94054000-T-C?dataset=gnomad_r2_1",
        "id": "7-94054000-T-C",
        "variant": "7:94054000 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94424688-T-C?dataset=gnomad_r3",
        "id": "7-94424688-T-C",
        "variant": "7:94424688 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94424688-T-C?dataset=gnomad_r4",
        "id": "7-94424688-T-C",
        "variant": "7:94424688 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 94424688,
          "referenceAllele": "T",
          "start": 94424687
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94424688T>C",
        "CM000669.2:g.94424688T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 94054000,
          "referenceAllele": "T",
          "start": 94053999
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94054000T>C",
        "CM000669.1:g.94054000T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 93891936,
          "referenceAllele": "T",
          "start": 93891935
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93891936T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35128,
          "referenceAllele": "T",
          "start": 35127
        }
      ],
      "hgvs": [
        "NG_007405.1:g.35128T>C",
        "LRG_2:g.35128T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2810,
          "endIntronDirection": "+",
          "endIntronOffset": 245,
          "referenceAllele": "T",
          "start": 2810,
          "startIntronDirection": "+",
          "startIntronOffset": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.2673+245T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:n.2673+245T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2673+245T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2673+245T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:n.2673+245T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:n.2673+245T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3144,
          "endIntronDirection": "+",
          "endIntronOffset": 245,
          "referenceAllele": "T",
          "start": 3144,
          "startIntronDirection": "+",
          "startIntronOffset": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.2673+245T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:n.2673+245T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "endIntronDirection": "+",
          "endIntronOffset": 245,
          "referenceAllele": "T",
          "start": 456,
          "startIntronDirection": "+",
          "startIntronOffset": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000469732.1:n.456+245T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2218,
          "referenceAllele": "T",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000481570.5:n.2218T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2785,
          "endIntronDirection": "+",
          "endIntronOffset": 245,
          "referenceAllele": "T",
          "start": 2785,
          "startIntronDirection": "+",
          "startIntronOffset": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.2667+245T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:n.2667+245T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3144,
          "endIntronDirection": "+",
          "endIntronOffset": 245,
          "referenceAllele": "T",
          "start": 3144,
          "startIntronDirection": "+",
          "startIntronOffset": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.2673+245T>C",
        "LRG_2t1:c.2673+245T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:n.2673+245T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2810,
          "endIntronDirection": "+",
          "endIntronOffset": 245,
          "referenceAllele": "T",
          "start": 2810,
          "startIntronDirection": "+",
          "startIntronOffset": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.2673+245T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:n.2673+245T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2673+245T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2673+245T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:n.2673+245T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:n.2673+245T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}