{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392328766",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.7246G>C (p.Gly2416Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48718020C>G?assembly=hg19",
        "id": "chr15:g.48718020C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48425823C>G?assembly=hg38",
        "id": "chr15:g.48425823C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48425823,
          "referenceAllele": "C",
          "start": 48425822
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48425823C>G",
        "CM000677.2:g.48425823C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48718020,
          "referenceAllele": "C",
          "start": 48718019
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48718020C>G",
        "CM000677.1:g.48718020C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 46505312,
          "referenceAllele": "C",
          "start": 46505311
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46505312C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224966,
          "referenceAllele": "G",
          "start": 224965
        }
      ],
      "hgvs": [
        "NG_008805.2:g.224966G>C",
        "LRG_778:g.224966G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7624,
          "referenceAllele": "G",
          "start": 7623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.*54G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:n.*54G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7729,
          "referenceAllele": "G",
          "start": 7728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*759G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*759G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1427,
          "referenceAllele": "G",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.1427G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682767.1:n.543G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7562,
          "referenceAllele": "G",
          "start": 7561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.7246G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Gly2416Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Gly2416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7246G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7246G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Gly2416Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Gly2416Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2412,
          "referenceAllele": "G",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.2412G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.2412G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7702,
          "referenceAllele": "G",
          "start": 7701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.7246G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Gly2416Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Gly2416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2615,
          "referenceAllele": "G",
          "start": 2614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.2615G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304270",
      "coordinates": [
        {
          "allele": "C",
          "end": 7641,
          "referenceAllele": "G",
          "start": 7640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.7246G>C",
        "LRG_778t1:c.7246G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gly2416Arg",
        "hgvsWellDefined": "NP_000129.3:p.Gly2416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304270",
      "coordinates": [
        {
          "allele": "C",
          "end": 7562,
          "referenceAllele": "G",
          "start": 7561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.7246G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gly2416Arg",
        "hgvsWellDefined": "NP_000129.3:p.Gly2416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7246G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7246G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Gly2416Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Gly2416Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}