{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393235198",
  "communityStandardTitle": [
    "NM_001080462.3(TMEM202):c.612G>T (p.Met204Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72699551G>T?assembly=hg19",
        "id": "chr15:g.72699551G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72407210G>T?assembly=hg38",
        "id": "chr15:g.72407210G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 72407210,
          "referenceAllele": "G",
          "start": 72407209
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72407210G>T",
        "CM000677.2:g.72407210G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 72699551,
          "referenceAllele": "G",
          "start": 72699550
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72699551G>T",
        "CM000677.1:g.72699551G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 70486605,
          "referenceAllele": "G",
          "start": 70486604
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70486605G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "ENST00000341689.4:c.612G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340212.3:p.Met204Ile",
        "hgvsWellDefined": "ENSP00000340212.3:p.Met204Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748011",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341689.4:c.612G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001080462.3:c.612G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340212.3:p.Met204Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001073931.1:p.Met204Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "ENST00000649825.1:c.279G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497819.1:p.Met93Ile",
        "hgvsWellDefined": "ENSP00000497819.1:p.Met93Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "G",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "ENST00000341689.3:c.612G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340212.3:p.Met204Ile",
        "hgvsWellDefined": "ENSP00000340212.3:p.Met204Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "endIntronDirection": "+",
          "endIntronOffset": 459,
          "referenceAllele": "G",
          "start": 249,
          "startIntronDirection": "+",
          "startIntronOffset": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "ENST00000567679.1:c.*45+459G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456083.1:n.*45+459G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "G",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "ENST00000568167.5:c.*170G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457632.1:n.*170G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580149876",
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "NM_001080462.1:c.612G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073931.1:p.Met204Ile",
        "hgvsWellDefined": "NP_001073931.1:p.Met204Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "XM_011521497.1:c.495G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519799.1:p.Met165Ile",
        "hgvsWellDefined": "XP_011519799.1:p.Met165Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "endIntronDirection": "+",
          "endIntronOffset": 459,
          "referenceAllele": "G",
          "start": 713,
          "startIntronDirection": "+",
          "startIntronOffset": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "XM_011521498.1:c.487+459G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519800.1:n.487+459G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "XM_011521499.1:c.279G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519801.1:p.Met93Ile",
        "hgvsWellDefined": "XP_011519801.1:p.Met93Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "XM_011521500.1:c.279G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519802.1:p.Met93Ile",
        "hgvsWellDefined": "XP_011519802.1:p.Met93Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580149876",
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "NM_001080462.2:c.612G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073931.1:p.Met204Ile",
        "hgvsWellDefined": "NP_001073931.1:p.Met204Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "NR_148418.1:n.370G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "endIntronDirection": "+",
          "endIntronOffset": 459,
          "referenceAllele": "G",
          "start": 245,
          "startIntronDirection": "+",
          "startIntronOffset": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "NR_148419.1:n.245+459G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "XM_011521497.2:c.495G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519799.1:p.Met165Ile",
        "hgvsWellDefined": "XP_011519799.1:p.Met165Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "XM_011521499.2:c.279G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519801.1:p.Met93Ile",
        "hgvsWellDefined": "XP_011519801.1:p.Met93Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "endIntronDirection": "+",
          "endIntronOffset": 459,
          "referenceAllele": "G",
          "start": 518,
          "startIntronDirection": "+",
          "startIntronOffset": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "XM_024449910.1:c.487+459G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305678.1:n.487+459G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580149876",
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "NM_001080462.3:c.612G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073931.1:p.Met204Ile",
        "hgvsWellDefined": "NP_001073931.1:p.Met204Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676261",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341689.4:c.612G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001080462.3:c.612G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340212.3:p.Met204Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001073931.1:p.Met204Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "G",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "NR_148418.2:n.378G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "endIntronDirection": "+",
          "endIntronOffset": 459,
          "referenceAllele": "G",
          "start": 253,
          "startIntronDirection": "+",
          "startIntronOffset": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033733",
      "geneNCBI_id": 338949,
      "geneSymbol": "TMEM202",
      "hgvs": [
        "NR_148419.2:n.253+459G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704740"
    }
  ],
  "type": "nucleotide"
}