{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118599",
  "communityStandardTitle": [
    "NM_012233.3(RAB3GAP1):c.649-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22096[alleleid]",
        "alleleId": 22096,
        "preferredName": "NM_012233.3(RAB3GAP1):c.649-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7057",
        "RCV": [
          "RCV000007473"
        ],
        "variationId": 7057
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.135878387A>G?assembly=hg19",
        "id": "chr2:g.135878387A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.135120817A>G?assembly=hg38",
        "id": "chr2:g.135120817A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730882183",
        "rs": 730882183
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-135120817-A-G?dataset=gnomad_r4",
        "id": "2-135120817-A-G",
        "variant": "2:135120817 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 135120817,
          "referenceAllele": "A",
          "start": 135120816
        }
      ],
      "hgvs": [
        "NC_000002.12:g.135120817A>G",
        "CM000664.2:g.135120817A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 135878387,
          "referenceAllele": "A",
          "start": 135878386
        }
      ],
      "hgvs": [
        "NC_000002.11:g.135878387A>G",
        "CM000664.1:g.135878387A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 135594857,
          "referenceAllele": "A",
          "start": 135594856
        }
      ],
      "hgvs": [
        "NC_000002.10:g.135594857A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73553,
          "referenceAllele": "A",
          "start": 73552
        }
      ],
      "hgvs": [
        "NG_016972.1:g.73553A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003341"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 667,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000539493.3:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444306.2:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 280,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 280,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000685967.1:c.*106-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508423.1:n.*106-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 661,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 661,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000686114.1:n.662-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 907,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000687199.1:c.*717-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510319.1:n.*717-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 667,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000688088.1:n.668-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150,
          "endIntronDirection": "-",
          "endIntronOffset": 46875,
          "referenceAllele": "A",
          "start": 150,
          "startIntronDirection": "-",
          "startIntronOffset": 46876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000688182.1:c.151-46876A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509324.1:n.151-46876A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 667,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000689880.1:n.668-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000690208.1:c.*327-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510746.1:n.*327-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 667,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000690785.1:n.668-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 438,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000691339.1:c.*272-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509953.1:n.*272-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 871,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 871,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000691478.1:c.*748-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509081.1:n.*748-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 667,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000693554.1:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509030.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000264158.13:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264158.8:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742627",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264158.13:c.649-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012233.3:c.649-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264158.8:n.649-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_036365.1:n.649-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 691,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000264158.12:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264158.7:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000442034.5:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411418.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 717,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 717,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000487003.5:n.718-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 516,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000539493.2:c.517-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444306.1:n.517-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 691,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.1:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 691,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.2:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032418"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 691,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510822.1:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509124.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 691,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.1:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 691,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510824.1:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509126.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 691,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.1:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 675,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.3:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 675,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.3:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 675,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XR_001738674.2:n.676-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.2:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.3:c.649-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:n.649-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264158.13:c.649-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012233.3:c.649-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264158.8:n.649-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_036365.1:n.649-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}