{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3735480",
  "communityStandardTitle": [
    "NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359768[alleleid]",
        "alleleId": 359768,
        "preferredName": "NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373424",
        "RCV": [
          "RCV000413590",
          "RCV002288987",
          "RCV003343804",
          "RCV003401402"
        ],
        "variationId": 373424
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-32057054-G-A",
        "id": "6-32057054-G-A",
        "variant": "6:32057054 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32057054G>A?assembly=hg19",
        "id": "chr6:g.32057054G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32089277G>A?assembly=hg38",
        "id": "chr6:g.32089277G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749890642",
        "rs": 749890642
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32057054-G-A?dataset=gnomad_r2_1",
        "id": "6-32057054-G-A",
        "variant": "6:32057054 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32089277-G-A?dataset=gnomad_r3",
        "id": "6-32089277-G-A",
        "variant": "6:32089277 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32089277-G-A?dataset=gnomad_r4",
        "id": "6-32089277-G-A",
        "variant": "6:32089277 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32089277,
          "referenceAllele": "G",
          "start": 32089276
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32089277G>A",
        "CM000668.2:g.32089277G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32057054,
          "referenceAllele": "G",
          "start": 32057053
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32057054G>A",
        "CM000668.1:g.32057054G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32165032,
          "referenceAllele": "G",
          "start": 32165031
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32165032G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25098,
          "referenceAllele": "C",
          "start": 25097
        }
      ],
      "hgvs": [
        "NG_008337.2:g.25098C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001038"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000644971.2:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496448.1:p.Arg821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644971.2:c.2461C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365276.2:c.2461C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496448.1:p.Arg821Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001352205.1:p.Arg821Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2621,
          "referenceAllele": "C",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000647633.1:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497649.1:p.Arg821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2663,
          "referenceAllele": "C",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000375244.7:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364393.3:p.Arg821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000613214.4:c.2317C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480067.1:p.Arg773Ter",
        "hgvsWellDefined": "ENSP00000480067.1:p.Arg773_Thr1545del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2663,
          "referenceAllele": "C",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_019105.6:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061978.6:p.Arg821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_001365276.1:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352205.1:p.Arg821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_019105.7:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061978.6:p.Arg821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_001365276.2:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352205.1:p.Arg821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644971.2:c.2461C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365276.2:c.2461C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496448.1:p.Arg821Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001352205.1:p.Arg821Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_019105.8:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061978.6:p.Arg821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698142"
    }
  ],
  "type": "nucleotide"
}