{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1402392",
  "communityStandardTitle": [
    "NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=280913[alleleid]",
        "alleleId": 280913,
        "preferredName": "NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/295647",
        "RCV": [
          "RCV000275636",
          "RCV000370134",
          "RCV002519494"
        ],
        "variationId": 295647
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-220345270-A-C",
        "id": "1-220345270-A-C",
        "variant": "1:220345270 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220345270A>C?assembly=hg19",
        "id": "chr1:g.220345270A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220171928A>C?assembly=hg38",
        "id": "chr1:g.220171928A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368216093",
        "rs": 368216093
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220345270-A-C?dataset=gnomad_r2_1",
        "id": "1-220345270-A-C",
        "variant": "1:220345270 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220171928-A-C?dataset=gnomad_r3",
        "id": "1-220171928-A-C",
        "variant": "1:220171928 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220171928-A-C?dataset=gnomad_r4",
        "id": "1-220171928-A-C",
        "variant": "1:220171928 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 220171928,
          "referenceAllele": "A",
          "start": 220171927
        }
      ],
      "hgvs": [
        "NC_000001.11:g.220171928A>C",
        "CM000663.2:g.220171928A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 220345270,
          "referenceAllele": "A",
          "start": 220345269
        }
      ],
      "hgvs": [
        "NC_000001.10:g.220345270A>C",
        "CM000663.1:g.220345270A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 218411893,
          "referenceAllele": "A",
          "start": 218411892
        }
      ],
      "hgvs": [
        "NC_000001.9:g.218411893A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 105574,
          "referenceAllele": "T",
          "start": 105573
        }
      ],
      "hgvs": [
        "NG_015837.1:g.105574T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 105574,
          "referenceAllele": "T",
          "start": 105573
        }
      ],
      "hgvs": [
        "NG_015837.2:g.105574T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673647"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2590,
          "referenceAllele": "T",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685286.1:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509457.1:p.Ser846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2660,
          "referenceAllele": "T",
          "start": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685664.1:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509121.1:p.Ser846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2526,
          "referenceAllele": "T",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000686381.1:c.2274T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509555.1:p.Ser758="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2573,
          "referenceAllele": "T",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687065.1:c.2274T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510408.1:p.Ser758="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2644,
          "referenceAllele": "T",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687394.1:n.2644T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2566,
          "referenceAllele": "T",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687647.1:c.2274T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509205.1:p.Ser758="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2953,
          "referenceAllele": "T",
          "start": 2952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000688035.1:n.2953T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2585,
          "referenceAllele": "T",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690315.1:c.2439T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509834.1:p.Ser813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2877,
          "referenceAllele": "T",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690373.1:n.2877T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2580,
          "referenceAllele": "T",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690824.1:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510709.1:p.Ser846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2617,
          "referenceAllele": "T",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691661.1:c.2550T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510185.1:p.Ser850="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2503,
          "referenceAllele": "T",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691862.1:c.2436T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509291.1:p.Ser812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2630,
          "referenceAllele": "T",
          "start": 2629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692813.1:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509080.1:p.Ser846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2773,
          "referenceAllele": "T",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692972.1:c.2613T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510753.1:p.Ser871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2631,
          "referenceAllele": "T",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000693602.1:n.2631T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2654,
          "referenceAllele": "T",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.7:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Ser846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.2538T>G"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.2538T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Ser846="
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Ser846="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.6:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Ser846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829732898",
      "coordinates": [
        {
          "allele": "G",
          "end": 2702,
          "referenceAllele": "T",
          "start": 2701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.3:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Ser846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829732898",
      "coordinates": [
        {
          "allele": "G",
          "end": 2654,
          "referenceAllele": "T",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.4:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Ser846="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.2538T>G"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.2538T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Ser846="
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Ser846="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}