{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353628",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224487[alleleid]",
        "alleleId": 224487,
        "preferredName": "NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222611",
        "RCV": [
          "RCV000208020"
        ],
        "variationId": 222611
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48722874A>G?assembly=hg19",
        "id": "chr15:g.48722874A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48430677A>G?assembly=hg38",
        "id": "chr15:g.48430677A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869025413",
        "rs": 869025413
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48430677,
          "referenceAllele": "A",
          "start": 48430676
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48430677A>G",
        "CM000677.2:g.48430677A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48722874,
          "referenceAllele": "A",
          "start": 48722873
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48722874A>G",
        "CM000677.1:g.48722874A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 46510166,
          "referenceAllele": "A",
          "start": 46510165
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46510166A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220112,
          "referenceAllele": "T",
          "start": 220111
        }
      ],
      "hgvs": [
        "NG_008805.2:g.220112T>C",
        "LRG_778:g.220112T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7181,
          "referenceAllele": "T",
          "start": 7180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.6865T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Cys2289Arg",
        "hgvsWellDefined": "ENSP00000453958.2:p.Cys2289Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7286,
          "referenceAllele": "T",
          "start": 7285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*316T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*316T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.474T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7181,
          "referenceAllele": "T",
          "start": 7180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.6865T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys2289Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys2289Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6865T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6865T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys2289Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys2289Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1969,
          "referenceAllele": "T",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.1969T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.1969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7321,
          "referenceAllele": "T",
          "start": 7320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.6865T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys2289Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys2289Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2172,
          "referenceAllele": "T",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.2172T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "T",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000560720.1:n.152T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353630",
      "coordinates": [
        {
          "allele": "C",
          "end": 7260,
          "referenceAllele": "T",
          "start": 7259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.6865T>C",
        "LRG_778t1:c.6865T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys2289Arg",
        "hgvsWellDefined": "NP_000129.3:p.Cys2289Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353630",
      "coordinates": [
        {
          "allele": "C",
          "end": 7181,
          "referenceAllele": "T",
          "start": 7180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.6865T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys2289Arg",
        "hgvsWellDefined": "NP_000129.3:p.Cys2289Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6865T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6865T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys2289Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys2289Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}