{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411215847",
  "communityStandardTitle": [
    "NM_000355.4(TCN2):c.1099G>C (p.Gly367Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.31013475G>C?assembly=hg19",
        "id": "chr22:g.31013475G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.30617488G>C?assembly=hg38",
        "id": "chr22:g.30617488G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520098",
        "rs": 1057520098
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-30617488-G-C?dataset=gnomad_r4",
        "id": "22-30617488-G-C",
        "variant": "22:30617488 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 30617488,
          "referenceAllele": "G",
          "start": 30617487
        }
      ],
      "hgvs": [
        "NC_000022.11:g.30617488G>C",
        "CM000684.2:g.30617488G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 31013475,
          "referenceAllele": "G",
          "start": 31013474
        }
      ],
      "hgvs": [
        "NC_000022.10:g.31013475G>C",
        "CM000684.1:g.31013475G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 29343475,
          "referenceAllele": "G",
          "start": 29343474
        }
      ],
      "hgvs": [
        "NC_000022.9:g.29343475G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15315,
          "referenceAllele": "G",
          "start": 15314
        }
      ],
      "hgvs": [
        "NG_007263.1:g.15315G>C",
        "LRG_116:g.15315G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000511"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2576,
          "referenceAllele": "G",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000471659.2:n.2576G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698263.1:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513635.1:p.Gly367Arg",
        "hgvsWellDefined": "ENSP00000513635.1:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2576,
          "referenceAllele": "G",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698264.1:n.2576G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "G",
          "start": 1262,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698265.1:c.1091+8G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513636.1:n.1091+8G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909268"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698266.1:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513637.1:p.Gly367Arg",
        "hgvsWellDefined": "ENSP00000513637.1:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1111,
          "endIntronDirection": "+",
          "endIntronOffset": 1701,
          "referenceAllele": "G",
          "start": 1111,
          "startIntronDirection": "+",
          "startIntronOffset": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698267.1:c.940+1701G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513638.1:n.940+1701G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698268.1:c.1126G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513639.1:p.Gly376Arg",
        "hgvsWellDefined": "ENSP00000513639.1:p.Gly376Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "G",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698269.1:c.*665G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513640.1:n.*665G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698270.1:c.946G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513641.1:p.Gly316Arg",
        "hgvsWellDefined": "ENSP00000513641.1:p.Gly316Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1300,
          "referenceAllele": "G",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698271.1:c.1129G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513642.1:p.Gly377Arg",
        "hgvsWellDefined": "ENSP00000513642.1:p.Gly377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698272.1:c.1090G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513643.1:p.Gly364Arg",
        "hgvsWellDefined": "ENSP00000513643.1:p.Gly364Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698273.1:c.1090G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513644.1:p.Gly364Arg",
        "hgvsWellDefined": "ENSP00000513644.1:p.Gly364Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1257,
          "referenceAllele": "G",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000215838.8:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215838.3:p.Gly367Arg",
        "hgvsWellDefined": "ENSP00000215838.3:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215838.8:c.1099G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000355.4:c.1099G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215838.3:p.Gly367Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000346.2:p.Gly367Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000215838.7:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215838.3:p.Gly367Arg",
        "hgvsWellDefined": "ENSP00000215838.3:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000405742.7:c.1087G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385914.3:p.Gly363Arg",
        "hgvsWellDefined": "ENSP00000385914.3:p.Gly363Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000407817.3:c.1018G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384914.3:p.Gly340Arg",
        "hgvsWellDefined": "ENSP00000384914.3:p.Gly340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000450638.5:c.1024G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394184.2:p.Gly342Arg",
        "hgvsWellDefined": "ENSP00000394184.2:p.Gly342Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000471659.1:n.255G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313802"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "referenceAllele": "G",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000493542.1:n.231G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088797342",
      "coordinates": [
        {
          "allele": "C",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_000355.3:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000346.2:p.Gly367Arg",
        "hgvsWellDefined": "NP_000346.2:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_001184726.1:c.1018G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171655.1:p.Gly340Arg",
        "hgvsWellDefined": "NP_001171655.1:p.Gly340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088797342",
      "coordinates": [
        {
          "allele": "C",
          "end": 1257,
          "referenceAllele": "G",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_000355.4:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000346.2:p.Gly367Arg",
        "hgvsWellDefined": "NP_000346.2:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674804",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215838.8:c.1099G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000355.4:c.1099G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215838.3:p.Gly367Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000346.2:p.Gly367Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_001184726.2:c.1018G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171655.1:p.Gly340Arg",
        "hgvsWellDefined": "NP_001171655.1:p.Gly340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713599"
    }
  ],
  "type": "nucleotide"
}