{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2034474953",
  "communityStandardTitle": [
    "NM_001844.5(COL2A1):c.3508G= (p.Gly1170=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912891",
        "rs": 121912891
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 47976052,
          "referenceAllele": "C",
          "start": 47976051
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47976052C=",
        "CM000674.2:g.47976052C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48369835,
          "referenceAllele": "C",
          "start": 48369834
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48369835C=",
        "CM000674.1:g.48369835C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 46656102,
          "referenceAllele": "C",
          "start": 46656101
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46656102C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33451,
          "referenceAllele": "G",
          "start": 33450
        }
      ],
      "hgvs": [
        "NG_008072.1:g.33451G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3486,
          "referenceAllele": "G",
          "start": 3485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.7:c.3301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly1101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3663,
          "referenceAllele": "G",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.8:c.3508G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly1170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.3508G="
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.3508G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly1170="
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly1170="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3301,
          "referenceAllele": "G",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.6:c.3301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly1101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3673,
          "referenceAllele": "G",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.7:c.3508G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly1170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2594,
          "referenceAllele": "G",
          "start": 2593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000493991.5:n.2594G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000546974.1:n.361G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079289895",
      "coordinates": [
        {
          "allele": "G",
          "end": 3689,
          "referenceAllele": "G",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.4:c.3508G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly1170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3482,
          "referenceAllele": "G",
          "start": 3481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.2:c.3301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly1101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4241,
          "referenceAllele": "G",
          "start": 4240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_006719242.2:c.3652G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719305.2:p.Gly1218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4418,
          "referenceAllele": "G",
          "start": 4417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537928.1:c.3652G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536230.1:p.Gly1218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4009,
          "referenceAllele": "G",
          "start": 4008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537929.1:c.3652G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536231.1:p.Gly1218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4010,
          "referenceAllele": "G",
          "start": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537930.1:c.3652G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536232.1:p.Gly1218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3992,
          "referenceAllele": "G",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537931.1:c.3652G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536233.1:p.Gly1218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4336,
          "referenceAllele": "G",
          "start": 4335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537932.1:c.3652G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536234.1:p.Gly1218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3970,
          "referenceAllele": "G",
          "start": 3969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537933.1:c.3652G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536235.1:p.Gly1218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104891"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4415,
          "referenceAllele": "G",
          "start": 4414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537934.1:c.3649G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536236.1:p.Gly1217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2944,
          "referenceAllele": "G",
          "start": 2943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537935.1:c.2596G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536237.1:p.Gly866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3774,
          "referenceAllele": "G",
          "start": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018828.1:c.3652G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874317.1:p.Gly1218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3771,
          "referenceAllele": "G",
          "start": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018829.1:c.3649G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874318.1:p.Gly1217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3564,
          "referenceAllele": "G",
          "start": 3563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018830.1:c.3442G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874319.1:p.Gly1148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3997,
          "referenceAllele": "G",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018831.2:c.2962G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874320.1:p.Gly988="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079289895",
      "coordinates": [
        {
          "allele": "G",
          "end": 3663,
          "referenceAllele": "G",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.5:c.3508G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly1170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.3508G="
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.3508G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly1170="
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly1170="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3456,
          "referenceAllele": "G",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.3:c.3301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly1101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699283"
    }
  ],
  "type": "nucleotide"
}