{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10184999",
  "communityStandardTitle": [
    "NM_000355.4(TCN2):c.1149C>T (p.Ser383=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3716537",
        "active": true,
        "id": "COSM3716537"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1931340[alleleid]",
        "alleleId": 1931340,
        "preferredName": "NM_000355.4(TCN2):c.1149C>T (p.Ser383=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2202217",
        "RCV": [
          "RCV002647881"
        ],
        "variationId": 2202217
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-31018997-C-T",
        "id": "22-31018997-C-T",
        "variant": "22:31018997 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.31018997C>T?assembly=hg19",
        "id": "chr22:g.31018997C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.30623010C>T?assembly=hg38",
        "id": "chr22:g.30623010C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770090669",
        "rs": 770090669
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-31018997-C-T?dataset=gnomad_r2_1",
        "id": "22-31018997-C-T",
        "variant": "22:31018997 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-30623010-C-T?dataset=gnomad_r4",
        "id": "22-30623010-C-T",
        "variant": "22:30623010 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 30623010,
          "referenceAllele": "C",
          "start": 30623009
        }
      ],
      "hgvs": [
        "NC_000022.11:g.30623010C>T",
        "CM000684.2:g.30623010C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 31018997,
          "referenceAllele": "C",
          "start": 31018996
        }
      ],
      "hgvs": [
        "NC_000022.10:g.31018997C>T",
        "CM000684.1:g.31018997C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 29348997,
          "referenceAllele": "C",
          "start": 29348996
        }
      ],
      "hgvs": [
        "NC_000022.9:g.29348997C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20837,
          "referenceAllele": "C",
          "start": 20836
        }
      ],
      "hgvs": [
        "NG_007263.1:g.20837C>T",
        "LRG_116:g.20837C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000511"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3240,
          "referenceAllele": "C",
          "start": 3239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000471659.2:n.3240C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "endIntronDirection": "-",
          "endIntronOffset": 3449,
          "referenceAllele": "C",
          "start": 1277,
          "startIntronDirection": "-",
          "startIntronOffset": 3450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698263.1:c.1107-3450C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513635.1:n.1107-3450C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2885,
          "referenceAllele": "C",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698264.1:n.2885C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698265.1:c.1134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513636.1:p.Ser378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698266.1:c.1149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513637.1:p.Ser383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698267.1:c.*5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513638.1:n.*5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698268.1:c.1176C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513639.1:p.Ser392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698269.1:c.*715C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513640.1:n.*715C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "C",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698270.1:c.996C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513641.1:p.Ser332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "C",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698271.1:c.1179C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513642.1:p.Ser393="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698272.1:c.1140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513643.1:p.Ser380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698273.1:c.1140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513644.1:p.Ser380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000215838.8:c.1149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215838.3:p.Ser383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215838.8:c.1149C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000355.4:c.1149C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215838.3:p.Ser383="
          },
          "RefSeq": {
            "hgvs": "NP_000346.2:p.Ser383="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000215838.7:c.1149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215838.3:p.Ser383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000405742.7:c.1137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385914.3:p.Ser379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000407817.3:c.1068C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384914.3:p.Ser356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000450638.5:c.1074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394184.2:p.Ser358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000493542.1:n.281C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825149561",
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_000355.3:c.1149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000346.2:p.Ser383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826143327",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_001184726.1:c.1068C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171655.1:p.Ser356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825149561",
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_000355.4:c.1149C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000346.2:p.Ser383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674804",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215838.8:c.1149C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000355.4:c.1149C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215838.3:p.Ser383="
          },
          "RefSeq": {
            "hgvs": "NP_000346.2:p.Ser383="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826143327",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_001184726.2:c.1068C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171655.1:p.Ser356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713599"
    }
  ],
  "type": "nucleotide"
}