{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2392500543",
  "communityStandardTitle": [
    "NM_001849.4(COL6A2):c.874G= (p.Gly292=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727502828",
        "rs": 727502828
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 46116027,
          "referenceAllele": "G",
          "start": 46116026
        }
      ],
      "hgvs": [
        "NC_000021.9:g.46116027G=",
        "CM000683.2:g.46116027G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 47535941,
          "referenceAllele": "G",
          "start": 47535940
        }
      ],
      "hgvs": [
        "NC_000021.8:g.47535941G=",
        "CM000683.1:g.47535941G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 46360369,
          "referenceAllele": "G",
          "start": 46360368
        }
      ],
      "hgvs": [
        "NC_000021.7:g.46360369G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22909,
          "referenceAllele": "G",
          "start": 22908
        }
      ],
      "hgvs": [
        "NG_008675.1:g.22909G=",
        "LRG_476:g.22909G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001160"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "ENST00000397763.6:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380870.1:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904627",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397763.6:c.874G="
          },
          "RefSeq": {
            "hgvs": "NM_058174.3:c.874G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380870.1:p.Gly292="
          },
          "RefSeq": {
            "hgvs": "NP_478054.2:p.Gly292="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "ENST00000300527.9:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300527.4:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744772",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300527.9:c.874G="
          },
          "RefSeq": {
            "hgvs": "NM_001849.4:c.874G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300527.4:p.Gly292="
          },
          "RefSeq": {
            "hgvs": "NP_001840.3:p.Gly292="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "ENST00000409416.6:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387115.1:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "ENST00000300527.8:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300527.4:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "ENST00000310645.9:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312529.5:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "ENST00000397763.5:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380870.1:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "ENST00000409416.5:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387115.1:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "ENST00000485591.1:n.530G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088355490",
      "coordinates": [
        {
          "allele": "G",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NM_001849.3:c.874G=",
        "LRG_476t1:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001840.3:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NM_058174.2:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "NP_478054.2:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NM_058175.2:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "NP_478055.2:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1247,
          "referenceAllele": "G",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "XM_011529451.1:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527753.1:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "XM_011529452.1:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527754.1:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "XR_937438.1:n.997G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "XR_937439.1:n.997G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "XR_937438.2:n.1004G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "XR_937439.2:n.1004G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088355490",
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NM_001849.4:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001840.3:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300527.9:c.874G="
          },
          "RefSeq": {
            "hgvs": "NM_001849.4:c.874G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300527.4:p.Gly292="
          },
          "RefSeq": {
            "hgvs": "NP_001840.3:p.Gly292="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NM_058174.3:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "NP_478054.2:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397763.6:c.874G="
          },
          "RefSeq": {
            "hgvs": "NM_058174.3:c.874G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380870.1:p.Gly292="
          },
          "RefSeq": {
            "hgvs": "NP_478054.2:p.Gly292="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002212",
      "geneNCBI_id": 1292,
      "geneSymbol": "COL6A2",
      "hgvs": [
        "NM_058175.3:c.874G="
      ],
      "proteinEffect": {
        "hgvs": "NP_478055.2:p.Gly292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729015"
    }
  ],
  "type": "nucleotide"
}