{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127156",
  "communityStandardTitle": [
    "NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32403[alleleid]",
        "alleleId": 32403,
        "preferredName": "NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17364",
        "RCV": [
          "RCV000018908"
        ],
        "variationId": 17364
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48388223C>T?assembly=hg19",
        "id": "chr12:g.48388223C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.47994440C>T?assembly=hg38",
        "id": "chr12:g.47994440C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912872",
        "rs": 121912872
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 47994440,
          "referenceAllele": "C",
          "start": 47994439
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47994440C>T",
        "CM000674.2:g.47994440C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 48388223,
          "referenceAllele": "C",
          "start": 48388222
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48388223C>T",
        "CM000674.1:g.48388223C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 46674490,
          "referenceAllele": "C",
          "start": 46674489
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46674490C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15063,
          "referenceAllele": "G",
          "start": 15062
        }
      ],
      "hgvs": [
        "NG_008072.1:g.15063G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.7:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly198Asp",
        "hgvsWellDefined": "ENSP00000338213.6:p.Gly198Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.8:c.800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly267Asp",
        "hgvsWellDefined": "ENSP00000369889.3:p.Gly267Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.800G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.800G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly267Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly267Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000337299.6:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338213.6:p.Gly198Asp",
        "hgvsWellDefined": "ENSP00000338213.6:p.Gly198Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "ENST00000380518.7:c.800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369889.3:p.Gly267Asp",
        "hgvsWellDefined": "ENSP00000369889.3:p.Gly267Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097973",
      "coordinates": [
        {
          "allele": "A",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.4:c.800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly267Asp",
        "hgvsWellDefined": "NP_001835.3:p.Gly267Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127157",
      "coordinates": [
        {
          "allele": "A",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.2:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly198Asp",
        "hgvsWellDefined": "NP_149162.2:p.Gly198Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1533,
          "referenceAllele": "G",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_006719242.2:c.944G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719305.2:p.Gly315Asp",
        "hgvsWellDefined": "XP_006719305.2:p.Gly315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1710,
          "referenceAllele": "G",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537928.1:c.944G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536230.1:p.Gly315Asp",
        "hgvsWellDefined": "XP_011536230.1:p.Gly315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537929.1:c.944G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536231.1:p.Gly315Asp",
        "hgvsWellDefined": "XP_011536231.1:p.Gly315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537930.1:c.944G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536232.1:p.Gly315Asp",
        "hgvsWellDefined": "XP_011536232.1:p.Gly315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537931.1:c.944G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536233.1:p.Gly315Asp",
        "hgvsWellDefined": "XP_011536233.1:p.Gly315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537932.1:c.944G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536234.1:p.Gly315Asp",
        "hgvsWellDefined": "XP_011536234.1:p.Gly315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1262,
          "referenceAllele": "G",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537933.1:c.944G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536235.1:p.Gly315Asp",
        "hgvsWellDefined": "XP_011536235.1:p.Gly315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1707,
          "referenceAllele": "G",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_011537934.1:c.941G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536236.1:p.Gly314Asp",
        "hgvsWellDefined": "XP_011536236.1:p.Gly314Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018828.1:c.944G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874317.1:p.Gly315Asp",
        "hgvsWellDefined": "XP_016874317.1:p.Gly315Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018829.1:c.941G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874318.1:p.Gly314Asp",
        "hgvsWellDefined": "XP_016874318.1:p.Gly314Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018830.1:c.734G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874319.1:p.Gly245Asp",
        "hgvsWellDefined": "XP_016874319.1:p.Gly245Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1289,
          "referenceAllele": "G",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "XM_017018831.2:c.254G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874320.1:p.Gly85Asp",
        "hgvsWellDefined": "XP_016874320.1:p.Gly85Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097973",
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_001844.5:c.800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001835.3:p.Gly267Asp",
        "hgvsWellDefined": "NP_001835.3:p.Gly267Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380518.8:c.800G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001844.5:c.800G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369889.3:p.Gly267Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001835.3:p.Gly267Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA127157",
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NM_033150.3:c.593G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149162.2:p.Gly198Asp",
        "hgvsWellDefined": "NP_149162.2:p.Gly198Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699283"
    }
  ],
  "type": "nucleotide"
}