{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1581269594",
  "communityStandardTitle": [
    "NM_001999.4(FBN2):c.3847+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223604",
        "rs": 863223604
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 128335454,
          "referenceAllele": "C",
          "start": 128335453
        }
      ],
      "hgvs": [
        "NC_000005.10:g.128335454C=",
        "CM000667.2:g.128335454C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 127671146,
          "referenceAllele": "C",
          "start": 127671145
        }
      ],
      "hgvs": [
        "NC_000005.9:g.127671146C=",
        "CM000667.1:g.127671146C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 127699045,
          "referenceAllele": "C",
          "start": 127699044
        }
      ],
      "hgvs": [
        "NC_000005.8:g.127699045C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207590,
          "referenceAllele": "G",
          "start": 207589
        }
      ],
      "hgvs": [
        "NG_008750.1:g.207590G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001199"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 631,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000703783.1:n.631+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 712,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 712,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000703785.1:n.712+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4489,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4489,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000262464.9:c.3847+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262464.4:n.3847+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742354",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262464.9:c.3847+1G="
          },
          "RefSeq": {
            "hgvs": "NM_001999.4:c.3847+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262464.4:n.3847+1G="
          },
          "RefSeq": {
            "hgvs": "NP_001990.2:n.3847+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4286,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4286,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000262464.8:c.3847+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262464.4:n.3847+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 634,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000507835.5:c.397+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426839.1:n.397+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4822,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4822,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000508053.5:c.3847+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424571.1:n.3847+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3966,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3966,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000508989.5:c.3748+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425596.1:n.3748+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3844,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3844,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000619499.4:c.3844+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482132.1:n.3844+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4286,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4286,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NM_001999.3:c.3847+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001990.2:n.3847+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3968,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3968,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "XM_017009228.2:c.3694+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864717.1:n.3694+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4489,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4489,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NM_001999.4:c.3847+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001990.2:n.3847+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262464.9:c.3847+1G="
          },
          "RefSeq": {
            "hgvs": "NM_001999.4:c.3847+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262464.4:n.3847+1G="
          },
          "RefSeq": {
            "hgvs": "NP_001990.2:n.3847+1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}