{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384548567",
  "communityStandardTitle": [
    "NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1685699[alleleid]",
        "alleleId": 1685699,
        "preferredName": "NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1693265",
        "RCV": [
          "RCV002260533"
        ],
        "variationId": 1693265
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48377509C>A?assembly=hg19",
        "id": "chr12:g.48377509C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.47983726C>A?assembly=hg38",
        "id": "chr12:g.47983726C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1447463543",
        "rs": 1447463543
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47983726,
          "referenceAllele": "C",
          "start": 47983725
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47983726C>A",
        "CM000674.2:g.47983726C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 48377509,
          "referenceAllele": "C",
          "start": 48377508
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48377509C>A",
        "CM000674.1:g.48377509C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 46663776,
          "referenceAllele": "C",
          "start": 46663775
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46663776C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25777,
          "referenceAllele": "G",
          "start": 25776
        }
      ],
      "hgvs": [
        "NG_008072.1:g.25777G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.7:c.1745G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly582Val",
        "hgvsWellDefined": "ENSP00000338213.6:p.Gly582Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.8:c.1952G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly651Val",
        "hgvsWellDefined": "ENSP00000369889.3:p.Gly651Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.1952G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.1952G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly651Val"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly651Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.6:c.1745G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly582Val",
        "hgvsWellDefined": "ENSP00000338213.6:p.Gly582Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "G",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.7:c.1952G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly651Val",
        "hgvsWellDefined": "ENSP00000369889.3:p.Gly651Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000483376.1:n.130G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "G",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000493991.5:n.876G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331026"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580258551",
      "coordinates": [
        {
          "allele": "T",
          "end": 2133,
          "referenceAllele": "G",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.4:c.1952G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly651Val",
        "hgvsWellDefined": "NP_001835.3:p.Gly651Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830097722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1926,
          "referenceAllele": "G",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.2:c.1745G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly582Val",
        "hgvsWellDefined": "NP_149162.2:p.Gly582Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_006719242.2:c.2096G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719305.2:p.Gly699Val",
        "hgvsWellDefined": "XP_006719305.2:p.Gly699Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2862,
          "referenceAllele": "G",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537928.1:c.2096G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536230.1:p.Gly699Val",
        "hgvsWellDefined": "XP_011536230.1:p.Gly699Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2453,
          "referenceAllele": "G",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537929.1:c.2096G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536231.1:p.Gly699Val",
        "hgvsWellDefined": "XP_011536231.1:p.Gly699Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2454,
          "referenceAllele": "G",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537930.1:c.2096G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536232.1:p.Gly699Val",
        "hgvsWellDefined": "XP_011536232.1:p.Gly699Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2436,
          "referenceAllele": "G",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537931.1:c.2096G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536233.1:p.Gly699Val",
        "hgvsWellDefined": "XP_011536233.1:p.Gly699Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2780,
          "referenceAllele": "G",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537932.1:c.2096G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536234.1:p.Gly699Val",
        "hgvsWellDefined": "XP_011536234.1:p.Gly699Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2414,
          "referenceAllele": "G",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537933.1:c.2096G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536235.1:p.Gly699Val",
        "hgvsWellDefined": "XP_011536235.1:p.Gly699Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2859,
          "referenceAllele": "G",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537934.1:c.2093G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536236.1:p.Gly698Val",
        "hgvsWellDefined": "XP_011536236.1:p.Gly698Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537935.1:c.1040G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536237.1:p.Gly347Val",
        "hgvsWellDefined": "XP_011536237.1:p.Gly347Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2218,
          "referenceAllele": "G",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018828.1:c.2096G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874317.1:p.Gly699Val",
        "hgvsWellDefined": "XP_016874317.1:p.Gly699Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2215,
          "referenceAllele": "G",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018829.1:c.2093G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874318.1:p.Gly698Val",
        "hgvsWellDefined": "XP_016874318.1:p.Gly698Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2008,
          "referenceAllele": "G",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018830.1:c.1886G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874319.1:p.Gly629Val",
        "hgvsWellDefined": "XP_016874319.1:p.Gly629Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "referenceAllele": "G",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018831.2:c.1406G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874320.1:p.Gly469Val",
        "hgvsWellDefined": "XP_016874320.1:p.Gly469Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580258551",
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.5:c.1952G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly651Val",
        "hgvsWellDefined": "NP_001835.3:p.Gly651Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.1952G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.1952G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly651Val"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly651Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830097722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.3:c.1745G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly582Val",
        "hgvsWellDefined": "NP_149162.2:p.Gly582Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699283"
    }
  ],
  "type": "nucleotide"
}