{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA947348069",
  "communityStandardTitle": [
    "NM_001844.5(COL2A1):c.86-1194A>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1635529",
        "rs": 1635529
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-48001319-T-A?dataset=gnomad_r3",
        "id": "12-48001319-T-A",
        "variant": "12:48001319 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-48001319-T-A?dataset=gnomad_r4",
        "id": "12-48001319-T-A",
        "variant": "12:48001319 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 48001319,
          "referenceAllele": "T",
          "start": 48001318
        }
      ],
      "hgvs": [
        "NC_000012.12:g.48001319T>A",
        "CM000674.2:g.48001319T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 48395102,
          "referenceAllele": "T",
          "start": 48395101
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48395102T>A",
        "CM000674.1:g.48395102T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 46681369,
          "referenceAllele": "T",
          "start": 46681368
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46681369T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8184,
          "referenceAllele": "A",
          "start": 8183
        }
      ],
      "hgvs": [
        "NG_008072.1:g.8184A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "endIntronDirection": "-",
          "endIntronOffset": 2887,
          "referenceAllele": "A",
          "start": 270,
          "startIntronDirection": "-",
          "startIntronOffset": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.7:c.86-2888A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:n.86-2888A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 240,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.8:c.86-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:n.86-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.86-1194A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.86-1194A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:n.86-1194A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:n.86-1194A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 318,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000490609.2:n.319-1194A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 2887,
          "referenceAllele": "A",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.6:c.86-2888A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:n.86-2888A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 250,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.7:c.86-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:n.86-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 224,
          "referenceAllele": "A",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000474996.6:n.214-225A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 250,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000490609.1:n.251-1194A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 266,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.4:c.86-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:n.86-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "endIntronDirection": "-",
          "endIntronOffset": 2887,
          "referenceAllele": "A",
          "start": 266,
          "startIntronDirection": "-",
          "startIntronOffset": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.2:c.86-2888A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:n.86-2888A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 815,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_006719242.2:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719305.2:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 992,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 992,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537928.1:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536230.1:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 583,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537929.1:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536231.1:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537930.1:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536232.1:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 566,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537931.1:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536233.1:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 910,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537932.1:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536234.1:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537933.1:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536235.1:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 992,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 992,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537934.1:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536236.1:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018828.1:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874317.1:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018829.1:c.227-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874318.1:n.227-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 2887,
          "referenceAllele": "A",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018830.1:c.227-2888A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874319.1:n.227-2888A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "referenceAllele": "A",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018831.2:c.-796A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874320.1:n.-796A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "endIntronDirection": "-",
          "endIntronOffset": 1193,
          "referenceAllele": "A",
          "start": 240,
          "startIntronDirection": "-",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.5:c.86-1194A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:n.86-1194A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.86-1194A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.86-1194A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:n.86-1194A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:n.86-1194A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "endIntronDirection": "-",
          "endIntronOffset": 2887,
          "referenceAllele": "A",
          "start": 240,
          "startIntronDirection": "-",
          "startIntronOffset": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.3:c.86-2888A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:n.86-2888A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699283"
    }
  ],
  "type": "nucleotide"
}