{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412434324",
  "communityStandardTitle": [
    "NM_002063.4(GLRA2):c.887C>T (p.Thr296Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4961667",
        "active": true,
        "id": "COSM4961667"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4961668",
        "active": true,
        "id": "COSM4961668"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=798182[alleleid]",
        "alleleId": 798182,
        "preferredName": "NM_002063.4(GLRA2):c.887C>T (p.Thr296Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/810510",
        "RCV": [
          "RCV000999327",
          "RCV001809885",
          "RCV002249606"
        ],
        "variationId": 810510
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.14627284C>T?assembly=hg19",
        "id": "chrX:g.14627284C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.14609162C>T?assembly=hg38",
        "id": "chrX:g.14609162C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1601761445",
        "rs": 1601761445
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 14609162,
          "referenceAllele": "C",
          "start": 14609161
        }
      ],
      "hgvs": [
        "NC_000023.11:g.14609162C>T",
        "CM000685.2:g.14609162C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 14627284,
          "referenceAllele": "C",
          "start": 14627283
        }
      ],
      "hgvs": [
        "NC_000023.10:g.14627284C>T",
        "CM000685.1:g.14627284C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 14537205,
          "referenceAllele": "C",
          "start": 14537204
        }
      ],
      "hgvs": [
        "NC_000023.9:g.14537205C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84865,
          "referenceAllele": "C",
          "start": 84864
        }
      ],
      "hgvs": [
        "NG_016459.1:g.84865C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84865,
          "referenceAllele": "C",
          "start": 84864
        }
      ],
      "hgvs": [
        "NG_016459.2:g.84865C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673680"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "ENST00000355020.9:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347123.4:p.Thr296Met",
        "hgvsWellDefined": "ENSP00000347123.4:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "ENST00000415367.2:n.1138C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "ENST00000218075.9:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218075.4:p.Thr296Met",
        "hgvsWellDefined": "ENSP00000218075.4:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740391",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218075.9:c.887C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002063.4:c.887C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218075.4:p.Thr296Met"
          },
          "RefSeq": {
            "hgvs": "NP_002054.1:p.Thr296Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "ENST00000218075.8:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218075.4:p.Thr296Met",
        "hgvsWellDefined": "ENSP00000218075.4:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "ENST00000355020.8:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347123.4:p.Thr296Met",
        "hgvsWellDefined": "ENSP00000347123.4:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "ENST00000443437.6:c.620C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387756.2:p.Thr207Met",
        "hgvsWellDefined": "ENSP00000387756.2:p.Thr207Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825581405",
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "NM_001118885.1:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001112357.1:p.Thr296Met",
        "hgvsWellDefined": "NP_001112357.1:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825581431",
      "coordinates": [
        {
          "allele": "T",
          "end": 1647,
          "referenceAllele": "C",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "NM_001118886.1:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001112358.1:p.Thr296Met",
        "hgvsWellDefined": "NP_001112358.1:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826101689",
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "NM_001171942.1:c.620C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165413.1:p.Thr207Met",
        "hgvsWellDefined": "NP_001165413.1:p.Thr207Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1647,
          "referenceAllele": "C",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "NM_002063.3:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002054.1:p.Thr296Met",
        "hgvsWellDefined": "NP_002054.1:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_006724487.2:c.839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724550.1:p.Thr280Met",
        "hgvsWellDefined": "XP_006724550.1:p.Thr280Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1704,
          "referenceAllele": "C",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_011545495.1:c.839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543797.1:p.Thr280Met",
        "hgvsWellDefined": "XP_011543797.1:p.Thr280Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_011545496.1:c.839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543798.1:p.Thr280Met",
        "hgvsWellDefined": "XP_011543798.1:p.Thr280Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_006724487.3:c.839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724550.1:p.Thr280Met",
        "hgvsWellDefined": "XP_006724550.1:p.Thr280Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_011545496.2:c.839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543798.1:p.Thr280Met",
        "hgvsWellDefined": "XP_011543798.1:p.Thr280Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_017029427.1:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884916.1:p.Thr296Met",
        "hgvsWellDefined": "XP_016884916.1:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_017029428.2:c.620C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884917.1:p.Thr207Met",
        "hgvsWellDefined": "XP_016884917.1:p.Thr207Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_017029429.2:c.620C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884918.1:p.Thr207Met",
        "hgvsWellDefined": "XP_016884918.1:p.Thr207Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1629,
          "referenceAllele": "C",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_024452365.1:c.839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308133.1:p.Thr280Met",
        "hgvsWellDefined": "XP_024308133.1:p.Thr280Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "XM_024452366.1:c.620C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308134.1:p.Thr207Met",
        "hgvsWellDefined": "XP_024308134.1:p.Thr207Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "NM_002063.4:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002054.1:p.Thr296Met",
        "hgvsWellDefined": "NP_002054.1:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218075.9:c.887C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002063.4:c.887C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218075.4:p.Thr296Met"
          },
          "RefSeq": {
            "hgvs": "NP_002054.1:p.Thr296Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825581431",
      "coordinates": [
        {
          "allele": "T",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "NM_001118886.2:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001112358.1:p.Thr296Met",
        "hgvsWellDefined": "NP_001112358.1:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825581405",
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "NM_001118885.2:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001112357.1:p.Thr296Met",
        "hgvsWellDefined": "NP_001112357.1:p.Thr296Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712137"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826101689",
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004327",
      "geneNCBI_id": 2742,
      "geneSymbol": "GLRA2",
      "hgvs": [
        "NM_001171942.2:c.620C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165413.1:p.Thr207Met",
        "hgvsWellDefined": "NP_001165413.1:p.Thr207Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713401"
    }
  ],
  "type": "nucleotide"
}