{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387882045",
  "communityStandardTitle": [
    "NM_207361.6(FREM2):c.349C>T (p.Gln117Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2927988[alleleid]",
        "alleleId": 2927988,
        "preferredName": "NM_207361.6(FREM2):c.349C>T (p.Gln117Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2762927",
        "RCV": [
          "RCV003570327"
        ],
        "variationId": 2762927
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.39261830C>T?assembly=hg19",
        "id": "chr13:g.39261830C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.38687693C>T?assembly=hg38",
        "id": "chr13:g.38687693C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2541348375",
        "rs": 2541348375
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 38687693,
          "referenceAllele": "C",
          "start": 38687692
        }
      ],
      "hgvs": [
        "NC_000013.11:g.38687693C>T",
        "CM000675.2:g.38687693C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 39261830,
          "referenceAllele": "C",
          "start": 39261829
        }
      ],
      "hgvs": [
        "NC_000013.10:g.39261830C>T",
        "CM000675.1:g.39261830C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 38159830,
          "referenceAllele": "C",
          "start": 38159829
        }
      ],
      "hgvs": [
        "NC_000013.9:g.38159830C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5658,
          "referenceAllele": "C",
          "start": 5657
        }
      ],
      "hgvs": [
        "NG_008125.2:g.5658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000870"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "ENST00000280481.9:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280481.7:p.Gln117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280481.9:c.349C>T"
          },
          "RefSeq": {
            "hgvs": "NM_207361.6:c.349C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280481.7:p.Gln117Ter"
          },
          "RefSeq": {
            "hgvs": "NP_997244.4:p.Gln117Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "ENST00000280481.8:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280481.7:p.Gln117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NM_207361.5:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997244.4:p.Gln117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "XM_011535057.1:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533359.1:p.Gln117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "XR_941571.1:n.657C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "XM_017020554.1:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876043.1:p.Gln117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "XR_941571.2:n.653C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NM_207361.6:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997244.4:p.Gln117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673302",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280481.9:c.349C>T"
          },
          "RefSeq": {
            "hgvs": "NM_207361.6:c.349C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280481.7:p.Gln117Ter"
          },
          "RefSeq": {
            "hgvs": "NP_997244.4:p.Gln117Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}