{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621635",
  "communityStandardTitle": [
    "NM_001844.5(COL2A1):c.1708G>C (p.Gly570Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413337[alleleid]",
        "alleleId": 413337,
        "preferredName": "NM_001844.5(COL2A1):c.1708G>C (p.Gly570Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425003",
        "RCV": [
          "RCV000487933"
        ],
        "variationId": 425003
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48379343C>G?assembly=hg19",
        "id": "chr12:g.48379343C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.47985560C>G?assembly=hg38",
        "id": "chr12:g.47985560C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064797167",
        "rs": 1064797167
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 47985560,
          "referenceAllele": "C",
          "start": 47985559
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47985560C>G",
        "CM000674.2:g.47985560C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 48379343,
          "referenceAllele": "C",
          "start": 48379342
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48379343C>G",
        "CM000674.1:g.48379343C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 46665610,
          "referenceAllele": "C",
          "start": 46665609
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46665610C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23943,
          "referenceAllele": "G",
          "start": 23942
        }
      ],
      "hgvs": [
        "NG_008072.1:g.23943G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.7:c.1501G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly501Arg",
        "hgvsWellDefined": "ENSP00000338213.6:p.Gly501Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "G",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.8:c.1708G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly570Arg",
        "hgvsWellDefined": "ENSP00000369889.3:p.Gly570Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.1708G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.1708G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly570Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly570Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1501,
          "referenceAllele": "G",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.6:c.1501G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly501Arg",
        "hgvsWellDefined": "ENSP00000338213.6:p.Gly501Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1873,
          "referenceAllele": "G",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.7:c.1708G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly570Arg",
        "hgvsWellDefined": "ENSP00000369889.3:p.Gly570Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000493991.5:n.632G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331026"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645416427",
      "coordinates": [
        {
          "allele": "C",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.4:c.1708G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly570Arg",
        "hgvsWellDefined": "NP_001835.3:p.Gly570Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830097607",
      "coordinates": [
        {
          "allele": "C",
          "end": 1682,
          "referenceAllele": "G",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.2:c.1501G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly501Arg",
        "hgvsWellDefined": "NP_149162.2:p.Gly501Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2441,
          "referenceAllele": "G",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_006719242.2:c.1852G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719305.2:p.Gly618Arg",
        "hgvsWellDefined": "XP_006719305.2:p.Gly618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537928.1:c.1852G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536230.1:p.Gly618Arg",
        "hgvsWellDefined": "XP_011536230.1:p.Gly618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2209,
          "referenceAllele": "G",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537929.1:c.1852G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536231.1:p.Gly618Arg",
        "hgvsWellDefined": "XP_011536231.1:p.Gly618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537930.1:c.1852G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536232.1:p.Gly618Arg",
        "hgvsWellDefined": "XP_011536232.1:p.Gly618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2192,
          "referenceAllele": "G",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537931.1:c.1852G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536233.1:p.Gly618Arg",
        "hgvsWellDefined": "XP_011536233.1:p.Gly618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2536,
          "referenceAllele": "G",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537932.1:c.1852G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536234.1:p.Gly618Arg",
        "hgvsWellDefined": "XP_011536234.1:p.Gly618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2170,
          "referenceAllele": "G",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537933.1:c.1852G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536235.1:p.Gly618Arg",
        "hgvsWellDefined": "XP_011536235.1:p.Gly618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2615,
          "referenceAllele": "G",
          "start": 2614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537934.1:c.1849G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536236.1:p.Gly617Arg",
        "hgvsWellDefined": "XP_011536236.1:p.Gly617Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1144,
          "referenceAllele": "G",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537935.1:c.796G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536237.1:p.Gly266Arg",
        "hgvsWellDefined": "XP_011536237.1:p.Gly266Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1974,
          "referenceAllele": "G",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018828.1:c.1852G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874317.1:p.Gly618Arg",
        "hgvsWellDefined": "XP_016874317.1:p.Gly618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018829.1:c.1849G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874318.1:p.Gly617Arg",
        "hgvsWellDefined": "XP_016874318.1:p.Gly617Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018830.1:c.1642G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874319.1:p.Gly548Arg",
        "hgvsWellDefined": "XP_016874319.1:p.Gly548Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2197,
          "referenceAllele": "G",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018831.2:c.1162G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874320.1:p.Gly388Arg",
        "hgvsWellDefined": "XP_016874320.1:p.Gly388Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645416427",
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "G",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.5:c.1708G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly570Arg",
        "hgvsWellDefined": "NP_001835.3:p.Gly570Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.1708G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.1708G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly570Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly570Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830097607",
      "coordinates": [
        {
          "allele": "C",
          "end": 1656,
          "referenceAllele": "G",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.3:c.1501G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly501Arg",
        "hgvsWellDefined": "NP_149162.2:p.Gly501Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699283"
    }
  ],
  "type": "nucleotide"
}