{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392330800",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=464313[alleleid]",
        "alleleId": 464313,
        "preferredName": "NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/457256",
        "RCV": [
          "RCV000528000"
        ],
        "variationId": 457256
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48720634A>C?assembly=hg19",
        "id": "chr15:g.48720634A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48428437A>C?assembly=hg38",
        "id": "chr15:g.48428437A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555394634",
        "rs": 1555394634
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48428437,
          "referenceAllele": "A",
          "start": 48428436
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48428437A>C",
        "CM000677.2:g.48428437A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48720634,
          "referenceAllele": "A",
          "start": 48720633
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48720634A>C",
        "CM000677.1:g.48720634A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46507926,
          "referenceAllele": "A",
          "start": 46507925
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46507926A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 222352,
          "referenceAllele": "T",
          "start": 222351
        }
      ],
      "hgvs": [
        "NG_008805.2:g.222352T>G",
        "LRG_778:g.222352T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7222,
          "referenceAllele": "T",
          "start": 7221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.6906T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Cys2302Trp",
        "hgvsWellDefined": "ENSP00000453958.2:p.Cys2302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7327,
          "referenceAllele": "T",
          "start": 7326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*357T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*357T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "T",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.515T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 141,
          "referenceAllele": "T",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682767.1:n.141T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7222,
          "referenceAllele": "T",
          "start": 7221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.6906T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys2302Trp",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys2302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6906T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6906T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys2302Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys2302Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "referenceAllele": "T",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.2010T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.2010T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7362,
          "referenceAllele": "T",
          "start": 7361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.6906T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys2302Trp",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys2302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "T",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.2213T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000560720.1:n.193T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658661267",
      "coordinates": [
        {
          "allele": "G",
          "end": 7301,
          "referenceAllele": "T",
          "start": 7300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.6906T>G",
        "LRG_778t1:c.6906T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys2302Trp",
        "hgvsWellDefined": "NP_000129.3:p.Cys2302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658661267",
      "coordinates": [
        {
          "allele": "G",
          "end": 7222,
          "referenceAllele": "T",
          "start": 7221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.6906T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys2302Trp",
        "hgvsWellDefined": "NP_000129.3:p.Cys2302Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6906T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6906T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys2302Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys2302Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}