{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1403147",
  "communityStandardTitle": [
    "NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=696478[alleleid]",
        "alleleId": 696478,
        "preferredName": "NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/767261",
        "RCV": [
          "RCV000945958",
          "RCV001488859",
          "RCV004543544"
        ],
        "variationId": 767261
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-220445568-G-A",
        "id": "1-220445568-G-A",
        "variant": "1:220445568 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220445568G>A?assembly=hg19",
        "id": "chr1:g.220445568G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220272226G>A?assembly=hg38",
        "id": "chr1:g.220272226G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138796052",
        "rs": 138796052
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220445568-G-A?dataset=gnomad_r2_1",
        "id": "1-220445568-G-A",
        "variant": "1:220445568 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220272226-G-A?dataset=gnomad_r3",
        "id": "1-220272226-G-A",
        "variant": "1:220272226 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220272226-G-A?dataset=gnomad_r4",
        "id": "1-220272226-G-A",
        "variant": "1:220272226 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 220272226,
          "referenceAllele": "G",
          "start": 220272225
        }
      ],
      "hgvs": [
        "NC_000001.11:g.220272226G>A",
        "CM000663.2:g.220272226G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 220445568,
          "referenceAllele": "G",
          "start": 220445567
        }
      ],
      "hgvs": [
        "NC_000001.10:g.220445568G>A",
        "CM000663.1:g.220445568G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 218512191,
          "referenceAllele": "G",
          "start": 218512190
        }
      ],
      "hgvs": [
        "NC_000001.9:g.218512191G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5276,
          "referenceAllele": "C",
          "start": 5275
        }
      ],
      "hgvs": [
        "NG_015837.1:g.5276C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5276,
          "referenceAllele": "C",
          "start": 5275
        }
      ],
      "hgvs": [
        "NG_015837.2:g.5276C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673647"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000684982.1:n.164C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685286.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509457.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000509457.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "referenceAllele": "C",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685664.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509121.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000509121.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000686381.1:c.-153C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509555.1:n.-153C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "C",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687065.1:c.-153C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510408.1:n.-153C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "referenceAllele": "C",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687394.1:n.218C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 143,
          "endIntronDirection": "+",
          "endIntronOffset": 130,
          "referenceAllele": "C",
          "start": 143,
          "startIntronDirection": "+",
          "startIntronOffset": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687647.1:c.-150+130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509205.1:n.-150+130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 138,
          "referenceAllele": "C",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000688035.1:n.138C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000688281.1:n.142C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "referenceAllele": "C",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000689820.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509387.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000509387.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690315.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509834.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000509834.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140,
          "referenceAllele": "C",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690373.1:n.140C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690379.1:n.142C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690824.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510709.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000510709.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691661.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510185.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000510185.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691862.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509291.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000509291.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "referenceAllele": "C",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692208.1:n.199C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692813.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509080.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000509080.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692972.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510753.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000510753.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000693602.1:n.205C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.7:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000351832.2:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.112C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.112C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Pro38Ser"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Pro38Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000237724.9:n.189C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS249017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "referenceAllele": "C",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.6:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000351832.2:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "C",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000462353.1:n.136C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000474178.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420156.1:p.Pro38Ser",
        "hgvsWellDefined": "ENSP00000420156.1:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112,
          "referenceAllele": "C",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000475769.1:n.112C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000478976.1:n.205C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916005440",
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.3:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Pro38Ser",
        "hgvsWellDefined": "NP_036546.2:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916005440",
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.4:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Pro38Ser",
        "hgvsWellDefined": "NP_036546.2:p.Pro38Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.112C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.112C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Pro38Ser"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Pro38Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}