{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392332714",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671868[alleleid]",
        "alleleId": 1671868,
        "preferredName": "NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679954",
        "RCV": [
          "RCV002236396",
          "RCV002363726",
          "RCV003774684"
        ],
        "variationId": 1679954
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48722967A>C?assembly=hg19",
        "id": "chr15:g.48722967A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48430770A>C?assembly=hg38",
        "id": "chr15:g.48430770A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520617",
        "rs": 1057520617
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48430770-A-C?dataset=gnomad_r3",
        "id": "15-48430770-A-C",
        "variant": "15:48430770 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48430770-A-C?dataset=gnomad_r4",
        "id": "15-48430770-A-C",
        "variant": "15:48430770 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48430770,
          "referenceAllele": "A",
          "start": 48430769
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48430770A>C",
        "CM000677.2:g.48430770A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48722967,
          "referenceAllele": "A",
          "start": 48722966
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48722967A>C",
        "CM000677.1:g.48722967A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46510259,
          "referenceAllele": "A",
          "start": 46510258
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46510259A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220019,
          "referenceAllele": "T",
          "start": 220018
        }
      ],
      "hgvs": [
        "NG_008805.2:g.220019T>G",
        "LRG_778:g.220019T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7088,
          "referenceAllele": "T",
          "start": 7087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.6772T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:p.Cys2258Gly",
        "hgvsWellDefined": "ENSP00000453958.2:p.Cys2258Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7193,
          "referenceAllele": "T",
          "start": 7192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*223T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*223T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.381T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7088,
          "referenceAllele": "T",
          "start": 7087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.6772T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys2258Gly",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys2258Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6772T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6772T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys2258Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys2258Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1876,
          "referenceAllele": "T",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.1876T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.1876T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7228,
          "referenceAllele": "T",
          "start": 7227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.6772T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Cys2258Gly",
        "hgvsWellDefined": "ENSP00000325527.5:p.Cys2258Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3760,
          "referenceAllele": "T",
          "start": 3759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000537463.6:c.*2535T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440294.2:n.*2535T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "T",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.2079T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "referenceAllele": "T",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000560720.1:n.59T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163527",
      "coordinates": [
        {
          "allele": "G",
          "end": 7167,
          "referenceAllele": "T",
          "start": 7166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.6772T>G",
        "LRG_778t1:c.6772T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys2258Gly",
        "hgvsWellDefined": "NP_000129.3:p.Cys2258Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163527",
      "coordinates": [
        {
          "allele": "G",
          "end": 7088,
          "referenceAllele": "T",
          "start": 7087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.6772T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Cys2258Gly",
        "hgvsWellDefined": "NP_000129.3:p.Cys2258Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6772T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6772T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Cys2258Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Cys2258Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}