{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2034446840",
  "communityStandardTitle": [
    "NM_001844.5(COL2A1):c.2491G= (p.Gly831=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796660",
        "rs": 1064796660
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 47980941,
          "referenceAllele": "C",
          "start": 47980940
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47980941C=",
        "CM000674.2:g.47980941C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48374724,
          "referenceAllele": "C",
          "start": 48374723
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48374724C=",
        "CM000674.1:g.48374724C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 46660991,
          "referenceAllele": "C",
          "start": 46660990
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46660991C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28562,
          "referenceAllele": "G",
          "start": 28561
        }
      ],
      "hgvs": [
        "NG_008072.1:g.28562G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2469,
          "referenceAllele": "G",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.7:c.2284G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2646,
          "referenceAllele": "G",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.8:c.2491G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly831="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.2491G="
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.2491G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly831="
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly831="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2284,
          "referenceAllele": "G",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.6:c.2284G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2656,
          "referenceAllele": "G",
          "start": 2655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.7:c.2491G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly831="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1577,
          "referenceAllele": "G",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000493991.5:n.1577G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331026"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079807348",
      "coordinates": [
        {
          "allele": "G",
          "end": 2672,
          "referenceAllele": "G",
          "start": 2671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.4:c.2491G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly831="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2465,
          "referenceAllele": "G",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.2:c.2284G="
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3224,
          "referenceAllele": "G",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_006719242.2:c.2635G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719305.2:p.Gly879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3401,
          "referenceAllele": "G",
          "start": 3400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537928.1:c.2635G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536230.1:p.Gly879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2992,
          "referenceAllele": "G",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537929.1:c.2635G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536231.1:p.Gly879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2993,
          "referenceAllele": "G",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537930.1:c.2635G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536232.1:p.Gly879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2975,
          "referenceAllele": "G",
          "start": 2974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537931.1:c.2635G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536233.1:p.Gly879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3319,
          "referenceAllele": "G",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537932.1:c.2635G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536234.1:p.Gly879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2953,
          "referenceAllele": "G",
          "start": 2952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537933.1:c.2635G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536235.1:p.Gly879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104891"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3398,
          "referenceAllele": "G",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537934.1:c.2632G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536236.1:p.Gly878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537935.1:c.1579G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536237.1:p.Gly527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "endIntronDirection": "+",
          "endIntronOffset": 202,
          "referenceAllele": "C",
          "start": 83,
          "startIntronDirection": "+",
          "startIntronOffset": 201
        }
      ],
      "hgvs": [
        "XR_944910.1:n.83+202C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2757,
          "referenceAllele": "G",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018828.1:c.2635G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874317.1:p.Gly879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2754,
          "referenceAllele": "G",
          "start": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018829.1:c.2632G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874318.1:p.Gly878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2547,
          "referenceAllele": "G",
          "start": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018830.1:c.2425G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874319.1:p.Gly809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2980,
          "referenceAllele": "G",
          "start": 2979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018831.2:c.1945G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874320.1:p.Gly649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079807348",
      "coordinates": [
        {
          "allele": "G",
          "end": 2646,
          "referenceAllele": "G",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.5:c.2491G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly831="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.2491G="
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.2491G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly831="
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly831="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2439,
          "referenceAllele": "G",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.3:c.2284G="
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699283"
    }
  ],
  "type": "nucleotide"
}