{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16619966",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1129189",
        "active": true,
        "id": "COSM1129189"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409285[alleleid]",
        "alleleId": 409285,
        "preferredName": "NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418193",
        "RCV": [
          "RCV000485515",
          "RCV001317673",
          "RCV003485587"
        ],
        "variationId": 418193
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48788323T>C?assembly=hg19",
        "id": "chr15:g.48788323T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48496126T>C?assembly=hg38",
        "id": "chr15:g.48496126T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793112",
        "rs": 1064793112
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48788323-T-C?dataset=gnomad_r2_1",
        "id": "15-48788323-T-C",
        "variant": "15:48788323 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48496126-T-C?dataset=gnomad_r3",
        "id": "15-48496126-T-C",
        "variant": "15:48496126 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48496126-T-C?dataset=gnomad_r4",
        "id": "15-48496126-T-C",
        "variant": "15:48496126 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48496126,
          "referenceAllele": "T",
          "start": 48496125
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48496126T>C",
        "CM000677.2:g.48496126T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48788323,
          "referenceAllele": "T",
          "start": 48788322
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48788323T>C",
        "CM000677.1:g.48788323T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46575615,
          "referenceAllele": "T",
          "start": 46575614
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46575615T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154663,
          "referenceAllele": "A",
          "start": 154662
        }
      ],
      "hgvs": [
        "NG_008805.2:g.154663A>G",
        "LRG_778:g.154663A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2709,
          "referenceAllele": "A",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.2393A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Tyr798Cys",
        "hgvsWellDefined": "ENSP00000453958.2:p.Tyr798Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2709,
          "referenceAllele": "A",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.2393A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:p.Tyr798Cys",
        "hgvsWellDefined": "ENSP00000501333.2:p.Tyr798Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000684448.1:n.1067A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2709,
          "referenceAllele": "A",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.2393A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Tyr798Cys",
        "hgvsWellDefined": "ENSP00000325527.5:p.Tyr798Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.2393A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.2393A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Tyr798Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Tyr798Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2849,
          "referenceAllele": "A",
          "start": 2848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.2393A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Tyr798Cys",
        "hgvsWellDefined": "ENSP00000325527.5:p.Tyr798Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 952,
          "endIntronDirection": "-",
          "endIntronOffset": 21475,
          "referenceAllele": "A",
          "start": 952,
          "startIntronDirection": "-",
          "startIntronOffset": 21476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.637-21476A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.637-21476A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645404351",
      "coordinates": [
        {
          "allele": "G",
          "end": 2788,
          "referenceAllele": "A",
          "start": 2787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.2393A>G",
        "LRG_778t1:c.2393A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Tyr798Cys",
        "hgvsWellDefined": "NP_000129.3:p.Tyr798Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645404351",
      "coordinates": [
        {
          "allele": "G",
          "end": 2709,
          "referenceAllele": "A",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.2393A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Tyr798Cys",
        "hgvsWellDefined": "NP_000129.3:p.Tyr798Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.2393A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.2393A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Tyr798Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Tyr798Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}