{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1402470",
  "communityStandardTitle": [
    "NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237363[alleleid]",
        "alleleId": 237363,
        "preferredName": "NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235683",
        "RCV": [
          "RCV000224837",
          "RCV000347930",
          "RCV000528699",
          "RCV000283527",
          "RCV000502830",
          "RCV004541363"
        ],
        "variationId": 235683
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-220355619-G-A",
        "id": "1-220355619-G-A",
        "variant": "1:220355619 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220355619G>A?assembly=hg19",
        "id": "chr1:g.220355619G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220182277G>A?assembly=hg38",
        "id": "chr1:g.220182277G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139337049",
        "rs": 139337049
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220355619-G-A?dataset=gnomad_r2_1",
        "id": "1-220355619-G-A",
        "variant": "1:220355619 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220182277-G-A?dataset=gnomad_r3",
        "id": "1-220182277-G-A",
        "variant": "1:220182277 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220182277-G-A?dataset=gnomad_r4",
        "id": "1-220182277-G-A",
        "variant": "1:220182277 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 220182277,
          "referenceAllele": "G",
          "start": 220182276
        }
      ],
      "hgvs": [
        "NC_000001.11:g.220182277G>A",
        "CM000663.2:g.220182277G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 220355619,
          "referenceAllele": "G",
          "start": 220355618
        }
      ],
      "hgvs": [
        "NC_000001.10:g.220355619G>A",
        "CM000663.1:g.220355619G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 218422242,
          "referenceAllele": "G",
          "start": 218422241
        }
      ],
      "hgvs": [
        "NC_000001.9:g.218422242G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 95225,
          "referenceAllele": "C",
          "start": 95224
        }
      ],
      "hgvs": [
        "NG_015837.1:g.95225C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 95225,
          "referenceAllele": "C",
          "start": 95224
        }
      ],
      "hgvs": [
        "NG_015837.2:g.95225C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673647"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "referenceAllele": "C",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685286.1:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509457.1:p.Leu764Phe",
        "hgvsWellDefined": "ENSP00000509457.1:p.Leu764Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2412,
          "referenceAllele": "C",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685664.1:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509121.1:p.Leu764Phe",
        "hgvsWellDefined": "ENSP00000509121.1:p.Leu764Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2278,
          "referenceAllele": "C",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000686381.1:c.2026C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509555.1:p.Leu676Phe",
        "hgvsWellDefined": "ENSP00000509555.1:p.Leu676Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2325,
          "referenceAllele": "C",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687065.1:c.2026C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510408.1:p.Leu676Phe",
        "hgvsWellDefined": "ENSP00000510408.1:p.Leu676Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2396,
          "referenceAllele": "C",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687394.1:n.2396C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2318,
          "referenceAllele": "C",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687647.1:c.2026C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509205.1:p.Leu676Phe",
        "hgvsWellDefined": "ENSP00000509205.1:p.Leu676Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2705,
          "referenceAllele": "C",
          "start": 2704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000688035.1:n.2705C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690315.1:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509834.1:p.Leu731Phe",
        "hgvsWellDefined": "ENSP00000509834.1:p.Leu731Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2629,
          "referenceAllele": "C",
          "start": 2628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690373.1:n.2629C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2332,
          "referenceAllele": "C",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690824.1:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510709.1:p.Leu764Phe",
        "hgvsWellDefined": "ENSP00000510709.1:p.Leu764Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691661.1:c.2302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510185.1:p.Leu768Phe",
        "hgvsWellDefined": "ENSP00000510185.1:p.Leu768Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "referenceAllele": "C",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691862.1:c.2188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509291.1:p.Leu730Phe",
        "hgvsWellDefined": "ENSP00000509291.1:p.Leu730Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2382,
          "referenceAllele": "C",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692813.1:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509080.1:p.Leu764Phe",
        "hgvsWellDefined": "ENSP00000509080.1:p.Leu764Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2525,
          "referenceAllele": "C",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692972.1:c.2365C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510753.1:p.Leu789Phe",
        "hgvsWellDefined": "ENSP00000510753.1:p.Leu789Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000693454.1:n.1500C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2383,
          "referenceAllele": "C",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000693602.1:n.2383C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.7:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Leu764Phe",
        "hgvsWellDefined": "ENSP00000351832.2:p.Leu764Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.2290C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.2290C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Leu764Phe"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Leu764Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2407,
          "referenceAllele": "C",
          "start": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.6:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Leu764Phe",
        "hgvsWellDefined": "ENSP00000351832.2:p.Leu764Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645492666",
      "coordinates": [
        {
          "allele": "T",
          "end": 2454,
          "referenceAllele": "C",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.3:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Leu764Phe",
        "hgvsWellDefined": "NP_036546.2:p.Leu764Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645492666",
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.4:c.2290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Leu764Phe",
        "hgvsWellDefined": "NP_036546.2:p.Leu764Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.2290C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.2290C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Leu764Phe"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Leu764Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}