{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA016598",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197634[alleleid]",
        "alleleId": 197634,
        "preferredName": "NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200090",
        "RCV": [
          "RCV000181573",
          "RCV001069452"
        ],
        "variationId": 200090
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48725152C>T?assembly=hg19",
        "id": "chr15:g.48725152C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48432955C>T?assembly=hg38",
        "id": "chr15:g.48432955C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728254",
        "rs": 794728254
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48432955,
          "referenceAllele": "C",
          "start": 48432954
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48432955C>T",
        "CM000677.2:g.48432955C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48725152,
          "referenceAllele": "C",
          "start": 48725151
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48725152C>T",
        "CM000677.1:g.48725152C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 46512444,
          "referenceAllele": "C",
          "start": 46512443
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46512444C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217834,
          "referenceAllele": "G",
          "start": 217833
        }
      ],
      "hgvs": [
        "NG_008805.2:g.217834G>A",
        "LRG_778:g.217834G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6966,
          "referenceAllele": "G",
          "start": 6965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.6650G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Cys2217Tyr",
        "hgvsWellDefined": "ENSP00000453958.2:p.Cys2217Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7071,
          "referenceAllele": "G",
          "start": 7070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*101G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6966,
          "referenceAllele": "G",
          "start": 6965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.6650G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys2217Tyr",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys2217Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6650G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6650G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys2217Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys2217Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.1754G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.1754G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7106,
          "referenceAllele": "G",
          "start": 7105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.6650G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys2217Tyr",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys2217Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3638,
          "referenceAllele": "G",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.*2413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.*2413G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1957,
          "referenceAllele": "G",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.1957G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304238",
      "coordinates": [
        {
          "allele": "A",
          "end": 7045,
          "referenceAllele": "G",
          "start": 7044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.6650G>A",
        "LRG_778t1:c.6650G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys2217Tyr",
        "hgvsWellDefined": "NP_000129.3:p.Cys2217Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304238",
      "coordinates": [
        {
          "allele": "A",
          "end": 6966,
          "referenceAllele": "G",
          "start": 6965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.6650G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys2217Tyr",
        "hgvsWellDefined": "NP_000129.3:p.Cys2217Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6650G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6650G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys2217Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys2217Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}