{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043470",
  "communityStandardTitle": [
    "NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360944[alleleid]",
        "alleleId": 360944,
        "preferredName": "NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374117",
        "RCV": [
          "RCV000415337",
          "RCV001196300"
        ],
        "variationId": 374117
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48370314C>G?assembly=hg19",
        "id": "chr12:g.48370314C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.47976531C>G?assembly=hg38",
        "id": "chr12:g.47976531C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518911",
        "rs": 1057518911
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 47976531,
          "referenceAllele": "C",
          "start": 47976530
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47976531C>G",
        "CM000674.2:g.47976531C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 48370314,
          "referenceAllele": "C",
          "start": 48370313
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48370314C>G",
        "CM000674.1:g.48370314C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 46656581,
          "referenceAllele": "C",
          "start": 46656580
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46656581C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32972,
          "referenceAllele": "G",
          "start": 32971
        }
      ],
      "hgvs": [
        "NG_008072.1:g.32972G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3450,
          "referenceAllele": "G",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.7:c.3265G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly1089Arg",
        "hgvsWellDefined": "ENSP00000338213.6:p.Gly1089Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3627,
          "referenceAllele": "G",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.8:c.3472G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly1158Arg",
        "hgvsWellDefined": "ENSP00000369889.3:p.Gly1158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.3472G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.3472G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly1158Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly1158Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3265,
          "referenceAllele": "G",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.6:c.3265G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly1089Arg",
        "hgvsWellDefined": "ENSP00000338213.6:p.Gly1089Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3637,
          "referenceAllele": "G",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.7:c.3472G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly1158Arg",
        "hgvsWellDefined": "ENSP00000369889.3:p.Gly1158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2558,
          "referenceAllele": "G",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000493991.5:n.2558G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000546974.1:n.325G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645416674",
      "coordinates": [
        {
          "allele": "C",
          "end": 3653,
          "referenceAllele": "G",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.4:c.3472G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly1158Arg",
        "hgvsWellDefined": "NP_001835.3:p.Gly1158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830098568",
      "coordinates": [
        {
          "allele": "C",
          "end": 3446,
          "referenceAllele": "G",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.2:c.3265G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly1089Arg",
        "hgvsWellDefined": "NP_149162.2:p.Gly1089Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4205,
          "referenceAllele": "G",
          "start": 4204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_006719242.2:c.3616G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719305.2:p.Gly1206Arg",
        "hgvsWellDefined": "XP_006719305.2:p.Gly1206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4382,
          "referenceAllele": "G",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537928.1:c.3616G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536230.1:p.Gly1206Arg",
        "hgvsWellDefined": "XP_011536230.1:p.Gly1206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3973,
          "referenceAllele": "G",
          "start": 3972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537929.1:c.3616G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536231.1:p.Gly1206Arg",
        "hgvsWellDefined": "XP_011536231.1:p.Gly1206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3974,
          "referenceAllele": "G",
          "start": 3973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537930.1:c.3616G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536232.1:p.Gly1206Arg",
        "hgvsWellDefined": "XP_011536232.1:p.Gly1206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3956,
          "referenceAllele": "G",
          "start": 3955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537931.1:c.3616G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536233.1:p.Gly1206Arg",
        "hgvsWellDefined": "XP_011536233.1:p.Gly1206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4300,
          "referenceAllele": "G",
          "start": 4299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537932.1:c.3616G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536234.1:p.Gly1206Arg",
        "hgvsWellDefined": "XP_011536234.1:p.Gly1206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3934,
          "referenceAllele": "G",
          "start": 3933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537933.1:c.3616G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536235.1:p.Gly1206Arg",
        "hgvsWellDefined": "XP_011536235.1:p.Gly1206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4379,
          "referenceAllele": "G",
          "start": 4378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537934.1:c.3613G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536236.1:p.Gly1205Arg",
        "hgvsWellDefined": "XP_011536236.1:p.Gly1205Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2908,
          "referenceAllele": "G",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537935.1:c.2560G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536237.1:p.Gly854Arg",
        "hgvsWellDefined": "XP_011536237.1:p.Gly854Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3738,
          "referenceAllele": "G",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018828.1:c.3616G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874317.1:p.Gly1206Arg",
        "hgvsWellDefined": "XP_016874317.1:p.Gly1206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3735,
          "referenceAllele": "G",
          "start": 3734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018829.1:c.3613G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874318.1:p.Gly1205Arg",
        "hgvsWellDefined": "XP_016874318.1:p.Gly1205Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3528,
          "referenceAllele": "G",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018830.1:c.3406G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874319.1:p.Gly1136Arg",
        "hgvsWellDefined": "XP_016874319.1:p.Gly1136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3961,
          "referenceAllele": "G",
          "start": 3960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018831.2:c.2926G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874320.1:p.Gly976Arg",
        "hgvsWellDefined": "XP_016874320.1:p.Gly976Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645416674",
      "coordinates": [
        {
          "allele": "C",
          "end": 3627,
          "referenceAllele": "G",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.5:c.3472G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly1158Arg",
        "hgvsWellDefined": "NP_001835.3:p.Gly1158Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.3472G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.3472G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly1158Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly1158Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830098568",
      "coordinates": [
        {
          "allele": "C",
          "end": 3420,
          "referenceAllele": "G",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.3:c.3265G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly1089Arg",
        "hgvsWellDefined": "NP_149162.2:p.Gly1089Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699283"
    }
  ],
  "type": "nucleotide"
}