{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3071742734",
  "communityStandardTitle": [
    "NM_005562.3(LAMC2):c.2348A= (p.Glu783=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776142807",
        "rs": 776142807
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 183235622,
          "referenceAllele": "A",
          "start": 183235621
        }
      ],
      "hgvs": [
        "NC_000001.11:g.183235622A=",
        "CM000663.2:g.183235622A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 183204757,
          "referenceAllele": "A",
          "start": 183204756
        }
      ],
      "hgvs": [
        "NC_000001.10:g.183204757A=",
        "CM000663.1:g.183204757A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 181471380,
          "referenceAllele": "A",
          "start": 181471379
        }
      ],
      "hgvs": [
        "NC_000001.9:g.181471380A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54359,
          "referenceAllele": "A",
          "start": 54358
        }
      ],
      "hgvs": [
        "NG_007079.2:g.54359A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000459"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2437,
          "referenceAllele": "A",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.5:c.2348A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Glu783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.2348A="
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.2348A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Glu783="
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Glu783="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2413,
          "referenceAllele": "A",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.4:c.2348A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Glu783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "referenceAllele": "A",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000493293.5:c.2348A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432063.1:p.Glu783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829602181",
      "coordinates": [
        {
          "allele": "A",
          "end": 2662,
          "referenceAllele": "A",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.2:c.2348A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Glu783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829920259",
      "coordinates": [
        {
          "allele": "A",
          "end": 2662,
          "referenceAllele": "A",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.2:c.2348A="
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Glu783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2357,
          "referenceAllele": "A",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "XM_017001273.2:c.*39A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856762.1:n.*39A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829602181",
      "coordinates": [
        {
          "allele": "A",
          "end": 2437,
          "referenceAllele": "A",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.3:c.2348A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Glu783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.2348A="
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.2348A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Glu783="
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Glu783="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829920259",
      "coordinates": [
        {
          "allele": "A",
          "end": 2437,
          "referenceAllele": "A",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.3:c.2348A="
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Glu783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698092"
    }
  ],
  "type": "nucleotide"
}