{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466571561",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.310G= (p.Gly104=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267608445",
        "rs": 267608445
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154032310,
          "referenceAllele": "C",
          "start": 154032309
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154032310C=",
        "CM000685.2:g.154032310C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153297761,
          "referenceAllele": "C",
          "start": 153297760
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153297761C=",
        "CM000685.1:g.153297761C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 152950955,
          "referenceAllele": "C",
          "start": 152950954
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152950955C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 109818,
          "referenceAllele": "G",
          "start": 109817
        }
      ],
      "hgvs": [
        "NG_007107.2:g.109818G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 109794,
          "referenceAllele": "G",
          "start": 109793
        }
      ],
      "hgvs": [
        "NG_007107.3:g.109794G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.274G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Gly92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.274G="
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.274G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Gly92="
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Gly92="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.310G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Gly104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.310G="
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.310G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Gly104="
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Gly104="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.274G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Gly92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000369957.5:c.*328G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358973.4:n.*328G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.310G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:p.Gly104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.310G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Gly104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2622,
          "referenceAllele": "G",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000486506.5:n.2622G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000611468.1:c.262G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479736.1:p.Gly88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.274G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Gly92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000622433.4:c.262G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484470.1:p.Gly88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "G",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.274G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:p.Gly92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825559185",
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.310G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Gly104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829564919",
      "coordinates": [
        {
          "allele": "G",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.274G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Gly92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.274G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Gly92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.-287G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:n.-287G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "G",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825559185",
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.310G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Gly104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.310G="
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.310G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Gly104="
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Gly104="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.-287G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:n.-287G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.-287G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:n.-287G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.-287G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:n.-287G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829564919",
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.274G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Gly92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.274G="
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.274G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Gly92="
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Gly92="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}