{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1726778721",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.2593G= (p.Gly865=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912902",
        "rs": 121912902
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 94424363,
          "referenceAllele": "G",
          "start": 94424362
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94424363G=",
        "CM000669.2:g.94424363G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 94053675,
          "referenceAllele": "G",
          "start": 94053674
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94053675G=",
        "CM000669.1:g.94053675G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 93891611,
          "referenceAllele": "G",
          "start": 93891610
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93891611G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34803,
          "referenceAllele": "G",
          "start": 34802
        }
      ],
      "hgvs": [
        "NG_007405.1:g.34803G=",
        "LRG_2:g.34803G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2730,
          "referenceAllele": "G",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.2593G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2593G="
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2593G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly865="
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly865="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3064,
          "referenceAllele": "G",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.2593G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000469732.1:n.376G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1893,
          "referenceAllele": "G",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000481570.5:n.1893G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2705,
          "referenceAllele": "G",
          "start": 2704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.2587G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:p.Gly863="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825056326",
      "coordinates": [
        {
          "allele": "G",
          "end": 3064,
          "referenceAllele": "G",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.2593G=",
        "LRG_2t1:c.2593G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825056326",
      "coordinates": [
        {
          "allele": "G",
          "end": 2730,
          "referenceAllele": "G",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.2593G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2593G="
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2593G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly865="
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly865="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}