{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1211821106",
  "communityStandardTitle": [
    "NM_005562.3(LAMC2):c.1858-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516487",
        "rs": 1057516487
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 183232186,
          "referenceAllele": "G",
          "start": 183232185
        }
      ],
      "hgvs": [
        "NC_000001.11:g.183232186G=",
        "CM000663.2:g.183232186G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 183201321,
          "referenceAllele": "G",
          "start": 183201320
        }
      ],
      "hgvs": [
        "NC_000001.10:g.183201321G=",
        "CM000663.1:g.183201321G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 181467944,
          "referenceAllele": "G",
          "start": 181467943
        }
      ],
      "hgvs": [
        "NC_000001.9:g.181467944G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50923,
          "referenceAllele": "G",
          "start": 50922
        }
      ],
      "hgvs": [
        "NG_007079.2:g.50923G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000459"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.5:c.1858-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:n.1858-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.1858-1G="
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.1858-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:n.1858-1G="
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:n.1858-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1922,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1922,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.4:c.1858-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:n.1858-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1972,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1972,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000493293.5:c.1858-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432063.1:n.1858-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2171,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2171,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.2:c.1858-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:n.1858-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2171,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2171,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.2:c.1858-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:n.1858-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "XM_017001273.2:c.1858-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856762.1:n.1858-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.3:c.1858-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:n.1858-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.1858-1G="
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.1858-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:n.1858-1G="
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:n.1858-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1946,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.3:c.1858-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:n.1858-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698092"
    }
  ],
  "type": "nucleotide"
}