{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3751142",
  "communityStandardTitle": [
    "NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3349383",
        "active": true,
        "id": "COSM3349383"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413710[alleleid]",
        "alleleId": 413710,
        "preferredName": "NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425376",
        "RCV": [
          "RCV000487615"
        ],
        "variationId": 425376
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-33145477-G-A",
        "id": "6-33145477-G-A",
        "variant": "6:33145477 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33145477G>A?assembly=hg19",
        "id": "chr6:g.33145477G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33177700G>A?assembly=hg38",
        "id": "chr6:g.33177700G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374156844",
        "rs": 374156844
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-33145477-G-A?dataset=gnomad_r2_1",
        "id": "6-33145477-G-A",
        "variant": "6:33145477 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-33177700-G-A?dataset=gnomad_r3",
        "id": "6-33177700-G-A",
        "variant": "6:33177700 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-33177700-G-A?dataset=gnomad_r4",
        "id": "6-33177700-G-A",
        "variant": "6:33177700 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 33177700,
          "referenceAllele": "G",
          "start": 33177699
        }
      ],
      "hgvs": [
        "NC_000006.12:g.33177700G>A",
        "CM000668.2:g.33177700G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 33145477,
          "referenceAllele": "G",
          "start": 33145476
        }
      ],
      "hgvs": [
        "NC_000006.11:g.33145477G>A",
        "CM000668.1:g.33145477G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 33253455,
          "referenceAllele": "G",
          "start": 33253454
        }
      ],
      "hgvs": [
        "NC_000006.10:g.33253455G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19769,
          "referenceAllele": "C",
          "start": 19768
        }
      ],
      "hgvs": [
        "NG_011589.1:g.19769C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 452,
          "referenceAllele": "C",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000361917.6:c.452C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000341947.7:c.1879C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339915.2:p.Arg627Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341947.7:c.1879C>T"
          },
          "RefSeq": {
            "hgvs": "NM_080680.3:c.1879C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339915.2:p.Arg627Ter"
          },
          "RefSeq": {
            "hgvs": "NP_542411.2:p.Arg627Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000341947.6:c.1879C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339915.2:p.Arg627Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000361917.5:c.1558C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355123.1:p.Arg520Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000374708.8:c.1621C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363840.4:p.Arg541Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "C",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000477772.1:n.98C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080679.2:c.1558C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542410.2:p.Arg520Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080680.2:c.1879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542411.2:p.Arg627Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080681.2:c.1621C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542412.2:p.Arg541Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1925,
          "referenceAllele": "C",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514298.1:c.1033C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512600.1:p.Arg345Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514299.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512601.1:p.Arg389Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1221,
          "referenceAllele": "C",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514300.1:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512602.1:p.Arg329Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514301.1:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512603.1:p.Arg308Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1400,
          "referenceAllele": "C",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514302.1:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512604.1:p.Arg256Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514299.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512601.1:p.Arg389Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514300.2:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512602.1:p.Arg329Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514302.2:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512604.1:p.Arg256Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2372,
          "referenceAllele": "C",
          "start": 2371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_017010250.1:c.1879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865739.1:p.Arg627Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_017010251.2:c.697C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865740.1:p.Arg233Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080680.3:c.1879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542411.2:p.Arg627Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699534",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341947.7:c.1879C>T"
          },
          "RefSeq": {
            "hgvs": "NM_080680.3:c.1879C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339915.2:p.Arg627Ter"
          },
          "RefSeq": {
            "hgvs": "NP_542411.2:p.Arg627Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "C",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080681.3:c.1621C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542412.2:p.Arg541Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080679.3:c.1558C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542410.2:p.Arg520Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729056"
    }
  ],
  "type": "nucleotide"
}