{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10184523",
  "communityStandardTitle": [
    "NM_000355.4(TCN2):c.230A>T (p.Lys77Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=337812[alleleid]",
        "alleleId": 337812,
        "preferredName": "NM_000355.4(TCN2):c.230A>T (p.Lys77Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/341190",
        "RCV": [
          "RCV000351597",
          "RCV003957760"
        ],
        "variationId": 341190
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-31007023-A-T",
        "id": "22-31007023-A-T",
        "variant": "22:31007023 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.31007023A>T?assembly=hg19",
        "id": "chr22:g.31007023A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.30611036A>T?assembly=hg38",
        "id": "chr22:g.30611036A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/75680863",
        "rs": 75680863
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-31007023-A-T?dataset=gnomad_r2_1",
        "id": "22-31007023-A-T",
        "variant": "22:31007023 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-30611036-A-T?dataset=gnomad_r3",
        "id": "22-30611036-A-T",
        "variant": "22:30611036 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-30611036-A-T?dataset=gnomad_r4",
        "id": "22-30611036-A-T",
        "variant": "22:30611036 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 30611036,
          "referenceAllele": "A",
          "start": 30611035
        }
      ],
      "hgvs": [
        "NC_000022.11:g.30611036A>T",
        "CM000684.2:g.30611036A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 31007023,
          "referenceAllele": "A",
          "start": 31007022
        }
      ],
      "hgvs": [
        "NC_000022.10:g.31007023A>T",
        "CM000684.1:g.31007023A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 29337023,
          "referenceAllele": "A",
          "start": 29337022
        }
      ],
      "hgvs": [
        "NC_000022.9:g.29337023A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8863,
          "referenceAllele": "A",
          "start": 8862
        }
      ],
      "hgvs": [
        "NG_007263.1:g.8863A>T",
        "LRG_116:g.8863A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000511"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000471659.2:n.401A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698263.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513635.1:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000513635.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698264.1:n.401A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698265.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513636.1:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000513636.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698266.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513637.1:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000513637.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698267.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513638.1:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000513638.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698268.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513639.1:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000513639.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698269.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513640.1:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000513640.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698270.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513641.1:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000513641.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698271.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513642.1:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000513642.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698272.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513643.1:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000513643.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "A",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000698273.1:c.221A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513644.1:p.Lys74Met",
        "hgvsWellDefined": "ENSP00000513644.1:p.Lys74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "A",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000215838.8:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215838.3:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000215838.3:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215838.8:c.230A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000355.4:c.230A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215838.3:p.Lys77Met"
          },
          "RefSeq": {
            "hgvs": "NP_000346.2:p.Lys77Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "A",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000215838.7:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215838.3:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000215838.3:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "A",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000405742.7:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385914.3:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000385914.3:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000407817.3:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384914.3:p.Lys77Met",
        "hgvsWellDefined": "ENSP00000384914.3:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "A",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000423350.1:n.559A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "ENST00000450638.5:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394184.2:p.Lys52Met",
        "hgvsWellDefined": "ENSP00000394184.2:p.Lys52Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645373759",
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "A",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_000355.3:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000346.2:p.Lys77Met",
        "hgvsWellDefined": "NP_000346.2:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915995720",
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "A",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_001184726.1:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171655.1:p.Lys77Met",
        "hgvsWellDefined": "NP_001171655.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645373759",
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "A",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_000355.4:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000346.2:p.Lys77Met",
        "hgvsWellDefined": "NP_000346.2:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674804",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215838.8:c.230A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000355.4:c.230A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215838.3:p.Lys77Met"
          },
          "RefSeq": {
            "hgvs": "NP_000346.2:p.Lys77Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915995720",
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "A",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011653",
      "geneNCBI_id": 6948,
      "geneSymbol": "TCN2",
      "hgvs": [
        "NM_001184726.2:c.230A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171655.1:p.Lys77Met",
        "hgvsWellDefined": "NP_001171655.1:p.Lys77Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713599"
    }
  ],
  "type": "nucleotide"
}