{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619897197",
  "communityStandardTitle": [
    "NM_080680.3(COL11A2):c.3100C= (p.Arg1034=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912947",
        "rs": 121912947
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 33171763,
          "referenceAllele": "G",
          "start": 33171762
        }
      ],
      "hgvs": [
        "NC_000006.12:g.33171763G=",
        "CM000668.2:g.33171763G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 33139540,
          "referenceAllele": "G",
          "start": 33139539
        }
      ],
      "hgvs": [
        "NC_000006.11:g.33139540G=",
        "CM000668.1:g.33139540G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 33247518,
          "referenceAllele": "G",
          "start": 33247517
        }
      ],
      "hgvs": [
        "NC_000006.10:g.33247518G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25706,
          "referenceAllele": "C",
          "start": 25705
        }
      ],
      "hgvs": [
        "NG_011589.1:g.25706C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3327,
          "referenceAllele": "C",
          "start": 3326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000341947.7:c.3100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339915.2:p.Arg1034="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341947.7:c.3100C="
          },
          "RefSeq": {
            "hgvs": "NM_080680.3:c.3100C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339915.2:p.Arg1034="
          },
          "RefSeq": {
            "hgvs": "NP_542411.2:p.Arg1034="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3328,
          "referenceAllele": "C",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000341947.6:c.3100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339915.2:p.Arg1034="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3007,
          "referenceAllele": "C",
          "start": 3006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000361917.5:c.2779C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355123.1:p.Arg927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3101,
          "referenceAllele": "C",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000374708.8:c.2842C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363840.4:p.Arg948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "endIntronDirection": "+",
          "endIntronOffset": 5246,
          "referenceAllele": "C",
          "start": 272,
          "startIntronDirection": "+",
          "startIntronOffset": 5245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000477772.1:n.272+5246C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830129922",
      "coordinates": [
        {
          "allele": "C",
          "end": 3007,
          "referenceAllele": "C",
          "start": 3006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080679.2:c.2779C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542410.2:p.Arg927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830131250",
      "coordinates": [
        {
          "allele": "C",
          "end": 3328,
          "referenceAllele": "C",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080680.2:c.3100C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542411.2:p.Arg1034="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830159456",
      "coordinates": [
        {
          "allele": "C",
          "end": 3070,
          "referenceAllele": "C",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080681.2:c.2842C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542412.2:p.Arg948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3146,
          "referenceAllele": "C",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514298.1:c.2254C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512600.1:p.Arg752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2622,
          "referenceAllele": "C",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514299.1:c.2386C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512601.1:p.Arg796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2442,
          "referenceAllele": "C",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514300.1:c.2206C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512602.1:p.Arg736="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2379,
          "referenceAllele": "C",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514301.1:c.2143C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512603.1:p.Arg715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2621,
          "referenceAllele": "C",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514302.1:c.1987C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512604.1:p.Arg663="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2619,
          "referenceAllele": "C",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514299.2:c.2386C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512601.1:p.Arg796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2439,
          "referenceAllele": "C",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514300.2:c.2206C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512602.1:p.Arg736="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2640,
          "referenceAllele": "C",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514302.2:c.1987C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512604.1:p.Arg663="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3593,
          "referenceAllele": "C",
          "start": 3592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_017010250.1:c.3100C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865739.1:p.Arg1034="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2482,
          "referenceAllele": "C",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_017010251.2:c.1918C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865740.1:p.Arg640="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830131250",
      "coordinates": [
        {
          "allele": "C",
          "end": 3327,
          "referenceAllele": "C",
          "start": 3326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080680.3:c.3100C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542411.2:p.Arg1034="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699534",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341947.7:c.3100C="
          },
          "RefSeq": {
            "hgvs": "NM_080680.3:c.3100C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339915.2:p.Arg1034="
          },
          "RefSeq": {
            "hgvs": "NP_542411.2:p.Arg1034="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830159456",
      "coordinates": [
        {
          "allele": "C",
          "end": 3069,
          "referenceAllele": "C",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080681.3:c.2842C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542412.2:p.Arg948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830129922",
      "coordinates": [
        {
          "allele": "C",
          "end": 3006,
          "referenceAllele": "C",
          "start": 3005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080679.3:c.2779C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542410.2:p.Arg927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729056"
    }
  ],
  "type": "nucleotide"
}