{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA174026",
  "communityStandardTitle": [
    "NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=177614",
        "active": true,
        "id": "COSM177614"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1060360",
        "active": true,
        "id": "COSM1060360"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171281[alleleid]",
        "alleleId": 171281,
        "preferredName": "NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161445",
        "RCV": [
          "RCV000148948",
          "RCV000468154",
          "RCV000680529",
          "RCV002311021",
          "RCV003313043"
        ],
        "variationId": 161445
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-127674667-C-T",
        "id": "5-127674667-C-T",
        "variant": "5:127674667 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.127674667C>T?assembly=hg19",
        "id": "chr5:g.127674667C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.128338975C>T?assembly=hg38",
        "id": "chr5:g.128338975C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200060005",
        "rs": 200060005
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-127674667-C-T?dataset=gnomad_r2_1",
        "id": "5-127674667-C-T",
        "variant": "5:127674667 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-128338975-C-T?dataset=gnomad_r3",
        "id": "5-128338975-C-T",
        "variant": "5:128338975 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-128338975-C-T?dataset=gnomad_r4",
        "id": "5-128338975-C-T",
        "variant": "5:128338975 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 128338975,
          "referenceAllele": "C",
          "start": 128338974
        }
      ],
      "hgvs": [
        "NC_000005.10:g.128338975C>T",
        "CM000667.2:g.128338975C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 127674667,
          "referenceAllele": "C",
          "start": 127674666
        }
      ],
      "hgvs": [
        "NC_000005.9:g.127674667C>T",
        "CM000667.1:g.127674667C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 127702566,
          "referenceAllele": "C",
          "start": 127702565
        }
      ],
      "hgvs": [
        "NC_000005.8:g.127702566C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204069,
          "referenceAllele": "G",
          "start": 204068
        }
      ],
      "hgvs": [
        "NG_008750.1:g.204069G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001199"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000703783.1:n.214G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000703785.1:n.295G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4072,
          "referenceAllele": "G",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000262464.9:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262464.4:p.Glu1144Lys",
        "hgvsWellDefined": "ENSP00000262464.4:p.Glu1144Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742354",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262464.9:c.3430G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001999.4:c.3430G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262464.4:p.Glu1144Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001990.2:p.Glu1144Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3869,
          "referenceAllele": "G",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000262464.8:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262464.4:p.Glu1144Lys",
        "hgvsWellDefined": "ENSP00000262464.4:p.Glu1144Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000507835.5:c.-21G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426839.1:n.-21G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4405,
          "referenceAllele": "G",
          "start": 4404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000508053.5:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424571.1:p.Glu1144Lys",
        "hgvsWellDefined": "ENSP00000424571.1:p.Glu1144Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3549,
          "referenceAllele": "G",
          "start": 3548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000508989.5:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425596.1:p.Glu1111Lys",
        "hgvsWellDefined": "ENSP00000425596.1:p.Glu1111Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3427,
          "referenceAllele": "G",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000619499.4:c.3427G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482132.1:p.Glu1143Lys",
        "hgvsWellDefined": "ENSP00000482132.1:p.Glu1143Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101807",
      "coordinates": [
        {
          "allele": "A",
          "end": 3869,
          "referenceAllele": "G",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NM_001999.3:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001990.2:p.Glu1144Lys",
        "hgvsWellDefined": "NP_001990.2:p.Glu1144Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3551,
          "referenceAllele": "G",
          "start": 3550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "XM_017009228.2:c.3277G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864717.1:p.Glu1093Lys",
        "hgvsWellDefined": "XP_016864717.1:p.Glu1093Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101807",
      "coordinates": [
        {
          "allele": "A",
          "end": 4072,
          "referenceAllele": "G",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NM_001999.4:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001990.2:p.Glu1144Lys",
        "hgvsWellDefined": "NP_001990.2:p.Glu1144Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262464.9:c.3430G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001999.4:c.3430G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262464.4:p.Glu1144Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001990.2:p.Glu1144Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}