{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2578581856",
  "communityStandardTitle": [
    "NM_080680.3(COL11A2):c.1917+70G>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2076311",
        "rs": 2076311
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-33177592-C-T?dataset=gnomad_r4",
        "id": "6-33177592-C-T",
        "variant": "6:33177592 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 33177592,
          "referenceAllele": "C",
          "start": 33177591
        }
      ],
      "hgvs": [
        "NC_000006.12:g.33177592C>T",
        "CM000668.2:g.33177592C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 33145369,
          "referenceAllele": "C",
          "start": 33145368
        }
      ],
      "hgvs": [
        "NC_000006.11:g.33145369C>T",
        "CM000668.1:g.33145369C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 33253347,
          "referenceAllele": "C",
          "start": 33253346
        }
      ],
      "hgvs": [
        "NC_000006.10:g.33253347C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19877,
          "referenceAllele": "G",
          "start": 19876
        }
      ],
      "hgvs": [
        "NG_011589.1:g.19877G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000361917.6:c.490+70G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2144,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 2144,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000341947.7:c.1917+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339915.2:n.1917+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341947.7:c.1917+70G>A"
          },
          "RefSeq": {
            "hgvs": "NM_080680.3:c.1917+70G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339915.2:n.1917+70G>A"
          },
          "RefSeq": {
            "hgvs": "NP_542411.2:n.1917+70G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 2145,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000341947.6:c.1917+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339915.2:n.1917+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1824,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1824,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000361917.5:c.1596+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355123.1:n.1596+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1918,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1918,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000374708.8:c.1659+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363840.4:n.1659+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "ENST00000477772.1:n.136+70G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1824,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1824,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080679.2:c.1596+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542410.2:n.1596+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 2145,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080680.2:c.1917+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542411.2:n.1917+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1887,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080681.2:c.1659+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542412.2:n.1659+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1963,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1963,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514298.1:c.1071+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512600.1:n.1071+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1439,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514299.1:c.1203+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512601.1:n.1203+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1259,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514300.1:c.1023+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512602.1:n.1023+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1196,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514301.1:c.960+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512603.1:n.960+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1438,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514302.1:c.804+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512604.1:n.804+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1436,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514299.2:c.1203+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512601.1:n.1203+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1256,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514300.2:c.1023+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512602.1:n.1023+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1457,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1457,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_011514302.2:c.804+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512604.1:n.804+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2410,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 2410,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_017010250.1:c.1917+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865739.1:n.1917+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1299,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1299,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "XM_017010251.2:c.735+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865740.1:n.735+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2144,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 2144,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080680.3:c.1917+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542411.2:n.1917+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699534",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341947.7:c.1917+70G>A"
          },
          "RefSeq": {
            "hgvs": "NM_080680.3:c.1917+70G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339915.2:n.1917+70G>A"
          },
          "RefSeq": {
            "hgvs": "NP_542411.2:n.1917+70G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1886,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080681.3:c.1659+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542412.2:n.1659+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1823,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NM_080679.3:c.1596+70G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542410.2:n.1596+70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729056"
    }
  ],
  "type": "nucleotide"
}