{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1726793775",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.677G= (p.Gly226=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922173",
        "rs": 193922173
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 94408220,
          "referenceAllele": "G",
          "start": 94408219
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94408220G=",
        "CM000669.2:g.94408220G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 94037532,
          "referenceAllele": "G",
          "start": 94037531
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94037532G=",
        "CM000669.1:g.94037532G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 93875468,
          "referenceAllele": "G",
          "start": 93875467
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93875468G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18660,
          "referenceAllele": "G",
          "start": 18659
        }
      ],
      "hgvs": [
        "NG_007405.1:g.18660G=",
        "LRG_2:g.18660G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.677G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.677G="
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.677G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly226="
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly226="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1148,
          "referenceAllele": "G",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.677G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.671G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:p.Gly224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073496841",
      "coordinates": [
        {
          "allele": "G",
          "end": 1148,
          "referenceAllele": "G",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.677G=",
        "LRG_2t1:c.677G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073496841",
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.677G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.677G="
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.677G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly226="
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly226="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}