{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351216344",
  "communityStandardTitle": [
    "NM_004369.4(COL6A3):c.6283-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1683762[alleleid]",
        "alleleId": 1683762,
        "preferredName": "NM_004369.4(COL6A3):c.6283-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1691283",
        "RCV": [
          "RCV002254381"
        ],
        "variationId": 1691283
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.238268033T>C?assembly=hg19",
        "id": "chr2:g.238268033T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.237359390T>C?assembly=hg38",
        "id": "chr2:g.237359390T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044988",
        "rs": 797044988
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 237359390,
          "referenceAllele": "T",
          "start": 237359389
        }
      ],
      "hgvs": [
        "NC_000002.12:g.237359390T>C",
        "CM000664.2:g.237359390T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 238268033,
          "referenceAllele": "T",
          "start": 238268032
        }
      ],
      "hgvs": [
        "NC_000002.11:g.238268033T>C",
        "CM000664.1:g.238268033T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 237932772,
          "referenceAllele": "T",
          "start": 237932771
        }
      ],
      "hgvs": [
        "NC_000002.10:g.237932772T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59818,
          "referenceAllele": "A",
          "start": 59817
        }
      ],
      "hgvs": [
        "NG_008676.1:g.59818A>G",
        "LRG_473:g.59818A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001161"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5914,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5914,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.9:c.5665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:n.5665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6524,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6524,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.9:c.6283-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:n.6283-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.6283-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.6283-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:n.6283-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:n.6283-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6735,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6735,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.8:c.6283-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:n.6283-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4687,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4687,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000347401.7:c.4462-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315609.4:n.4462-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5949,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5949,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.8:c.5665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:n.5665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000409809.5:c.5665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386844.1:n.5665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4687,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4687,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000472056.5:c.4462-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418285.1:n.4462-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6567,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6567,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.3:c.6283-2A>G",
        "LRG_473t1:c.6283-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:n.6283-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4746,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4746,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.4:c.4462-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:n.4462-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5949,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5949,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.3:c.5665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:n.5665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5924,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5924,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246065.1:c.5683-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246122.1:n.5683-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5070,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5070,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246066.1:c.5062-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246123.1:n.5062-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6023,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6023,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_006712253.1:c.5782-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712316.1:n.5782-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6521,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6521,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510574.1:c.6280-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508876.1:n.6280-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4324,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4324,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510575.1:c.3877-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508877.1:n.3877-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4786,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4786,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_017003304.1:c.3877-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858793.1:n.3877-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5272,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5272,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_024452684.1:c.5062-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308452.1:n.5062-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6524,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 6524,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.4:c.6283-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:n.6283-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.6283-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.6283-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:n.6283-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:n.6283-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4703,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4703,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.5:c.4462-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:n.4462-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5906,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5906,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.4:c.5665-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:n.5665-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729011"
    }
  ],
  "type": "nucleotide"
}