{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2906762",
  "communityStandardTitle": [
    "NM_000807.4(GABRA2):c.188-3T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1154788[alleleid]",
        "alleleId": 1154788,
        "preferredName": "NM_000807.4(GABRA2):c.188-3T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1168078",
        "RCV": [
          "RCV001518007",
          "RCV003980562"
        ],
        "variationId": 1168078
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-46334702-A-G",
        "id": "4-46334702-A-G",
        "variant": "4:46334702 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.46334702A>G?assembly=hg19",
        "id": "chr4:g.46334702A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.46332685A>G?assembly=hg38",
        "id": "chr4:g.46332685A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/279827",
        "rs": 279827
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-46334702-A-G?dataset=gnomad_r2_1",
        "id": "4-46334702-A-G",
        "variant": "4:46334702 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-46332685-A-G?dataset=gnomad_r3",
        "id": "4-46332685-A-G",
        "variant": "4:46332685 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-46332685-A-G?dataset=gnomad_r4",
        "id": "4-46332685-A-G",
        "variant": "4:46332685 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 46332685,
          "referenceAllele": "A",
          "start": 46332684
        }
      ],
      "hgvs": [
        "NC_000004.12:g.46332685A>G",
        "CM000666.2:g.46332685A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 46334702,
          "referenceAllele": "A",
          "start": 46334701
        }
      ],
      "hgvs": [
        "NC_000004.11:g.46334702A>G",
        "CM000666.1:g.46334702A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 46029459,
          "referenceAllele": "A",
          "start": 46029458
        }
      ],
      "hgvs": [
        "NC_000004.10:g.46029459A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 62355,
          "referenceAllele": "T",
          "start": 62354
        }
      ],
      "hgvs": [
        "NG_012835.1:g.62355T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 62355,
          "referenceAllele": "T",
          "start": 62354
        }
      ],
      "hgvs": [
        "NG_012835.2:g.62355T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616191"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000381620.9:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371033.4:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752557",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381620.9:c.188-3T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000807.4:c.188-3T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371033.4:n.188-3T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000798.2:n.188-3T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 860,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 860,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000356504.5:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348897.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 391,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000381620.8:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371033.4:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 328,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000503806.5:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424362.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 357,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 357,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000506961.5:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424093.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 194,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000507069.5:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427603.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 194,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000510233.5:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422642.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 361,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 361,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000510861.5:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421828.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 194,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000513005.5:c.188-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421639.1:n.188-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 368,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000514090.5:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421300.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 251,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000514193.5:c.188-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425526.1:n.188-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 340,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000515082.5:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423840.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000540012.5:c.-65-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444409.2:n.-65-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 251,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "ENST00000630416.2:c.188-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486333.1:n.188-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_000807.2:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000798.2:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 860,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 860,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001114175.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107647.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001286827.1:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273756.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 197,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_005248080.2:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248137.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_011513675.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511977.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 328,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_011513676.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511978.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_000807.3:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000798.2:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 860,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 860,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001114175.2:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107647.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001286827.2:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273756.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 515,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001330690.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317619.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 328,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_017007982.2:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863471.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_017007983.2:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863472.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 583,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453963.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309731.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 624,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453964.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309732.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 281,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453965.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309733.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 555,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453966.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309734.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 536,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453967.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309735.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 285,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 285,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453968.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309736.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 357,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 357,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453969.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309737.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453970.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309738.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 520,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453971.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309739.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 413,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 413,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453972.1:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309740.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 603,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453973.1:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309741.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 263,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 263,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "XM_024453974.1:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309742.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_000807.4:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000798.2:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381620.9:c.188-3T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000807.4:c.188-3T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371033.4:n.188-3T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000798.2:n.188-3T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001114175.3:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107647.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001286827.3:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273756.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001330690.2:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317619.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377144.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364073.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377145.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364074.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377146.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364075.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377147.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364076.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 379,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377148.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364077.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 384,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377149.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364078.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 296,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377150.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364079.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 395,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377151.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364080.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377152.1:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364081.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 384,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377153.1:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364082.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 19968,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 19969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377154.1:c.91-19969T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364083.1:n.91-19969T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004076",
      "geneNCBI_id": 2555,
      "geneSymbol": "GABRA2",
      "hgvs": [
        "NM_001377155.1:c.188-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364084.1:n.188-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694947"
    }
  ],
  "type": "nucleotide"
}