{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA207010",
  "communityStandardTitle": [
    "NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1338980",
        "active": true,
        "id": "COSM1338980"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=206759[alleleid]",
        "alleleId": 206759,
        "preferredName": "NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/211987",
        "RCV": [
          "RCV000193489",
          "RCV001500500"
        ],
        "variationId": 211987
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-220330642-G-A",
        "id": "1-220330642-G-A",
        "variant": "1:220330642 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220330642G>A?assembly=hg19",
        "id": "chr1:g.220330642G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220157300G>A?assembly=hg38",
        "id": "chr1:g.220157300G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145701892",
        "rs": 145701892
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220330642-G-A?dataset=gnomad_r2_1",
        "id": "1-220330642-G-A",
        "variant": "1:220330642 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220157300-G-A?dataset=gnomad_r3",
        "id": "1-220157300-G-A",
        "variant": "1:220157300 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220157300-G-A?dataset=gnomad_r4",
        "id": "1-220157300-G-A",
        "variant": "1:220157300 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 220157300,
          "referenceAllele": "G",
          "start": 220157299
        }
      ],
      "hgvs": [
        "NC_000001.11:g.220157300G>A",
        "CM000663.2:g.220157300G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 220330642,
          "referenceAllele": "G",
          "start": 220330641
        }
      ],
      "hgvs": [
        "NC_000001.10:g.220330642G>A",
        "CM000663.1:g.220330642G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 218397265,
          "referenceAllele": "G",
          "start": 218397264
        }
      ],
      "hgvs": [
        "NC_000001.9:g.218397265G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120202,
          "referenceAllele": "C",
          "start": 120201
        }
      ],
      "hgvs": [
        "NG_015837.1:g.120202C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120202,
          "referenceAllele": "C",
          "start": 120201
        }
      ],
      "hgvs": [
        "NG_015837.2:g.120202C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673647"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000474966.2:n.1517C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000491005.6:n.1339C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000491305.2:n.808C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3560,
          "referenceAllele": "C",
          "start": 3559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685286.1:c.*850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509457.1:n.*850C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3647,
          "referenceAllele": "C",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685664.1:c.3525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509121.1:p.Thr1175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3513,
          "referenceAllele": "C",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000686381.1:c.3261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509555.1:p.Thr1087="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3560,
          "referenceAllele": "C",
          "start": 3559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687065.1:c.3261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510408.1:p.Thr1087="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3631,
          "referenceAllele": "C",
          "start": 3630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687394.1:n.3631C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3553,
          "referenceAllele": "C",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687647.1:c.3261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509205.1:p.Thr1087="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6535,
          "referenceAllele": "C",
          "start": 6534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000688035.1:n.6535C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3572,
          "referenceAllele": "C",
          "start": 3571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690315.1:c.3426C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509834.1:p.Thr1142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3864,
          "referenceAllele": "C",
          "start": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690373.1:n.3864C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3567,
          "referenceAllele": "C",
          "start": 3566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690824.1:c.3525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510709.1:p.Thr1175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3604,
          "referenceAllele": "C",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691661.1:c.3537C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510185.1:p.Thr1179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3490,
          "referenceAllele": "C",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691862.1:c.3423C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509291.1:p.Thr1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3581,
          "referenceAllele": "C",
          "start": 3580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692813.1:c.3489C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509080.1:p.Thr1163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3760,
          "referenceAllele": "C",
          "start": 3759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692972.1:c.3600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510753.1:p.Thr1200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6111,
          "referenceAllele": "C",
          "start": 6110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000693602.1:n.6111C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3641,
          "referenceAllele": "C",
          "start": 3640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.7:c.3525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Thr1175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.3525C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.3525C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Thr1175="
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Thr1175="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3642,
          "referenceAllele": "C",
          "start": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.6:c.3525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Thr1175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829732941",
      "coordinates": [
        {
          "allele": "T",
          "end": 3689,
          "referenceAllele": "C",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.3:c.3525C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Thr1175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829732941",
      "coordinates": [
        {
          "allele": "T",
          "end": 3641,
          "referenceAllele": "C",
          "start": 3640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.4:c.3525C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Thr1175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.3525C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.3525C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Thr1175="
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Thr1175="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}