{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344734725",
  "communityStandardTitle": [
    "NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1192796[alleleid]",
        "alleleId": 1192796,
        "preferredName": "NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1204990",
        "RCV": [
          "RCV001571507",
          "RCV001882680"
        ],
        "variationId": 1204990
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220445647G>C?assembly=hg19",
        "id": "chr1:g.220445647G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220272305G>C?assembly=hg38",
        "id": "chr1:g.220272305G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1446997240",
        "rs": 1446997240
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220445647-G-C?dataset=gnomad_r2_1",
        "id": "1-220445647-G-C",
        "variant": "1:220445647 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220272305-G-C?dataset=gnomad_r3",
        "id": "1-220272305-G-C",
        "variant": "1:220272305 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220272305-G-C?dataset=gnomad_r4",
        "id": "1-220272305-G-C",
        "variant": "1:220272305 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 220272305,
          "referenceAllele": "G",
          "start": 220272304
        }
      ],
      "hgvs": [
        "NC_000001.11:g.220272305G>C",
        "CM000663.2:g.220272305G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 220445647,
          "referenceAllele": "G",
          "start": 220445646
        }
      ],
      "hgvs": [
        "NC_000001.10:g.220445647G>C",
        "CM000663.1:g.220445647G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 218512270,
          "referenceAllele": "G",
          "start": 218512269
        }
      ],
      "hgvs": [
        "NC_000001.9:g.218512270G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5197,
          "referenceAllele": "C",
          "start": 5196
        }
      ],
      "hgvs": [
        "NG_015837.1:g.5197C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5197,
          "referenceAllele": "C",
          "start": 5196
        }
      ],
      "hgvs": [
        "NG_015837.2:g.5197C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673647"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000684982.1:n.85C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685286.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509457.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000509457.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "referenceAllele": "C",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685664.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509121.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000509121.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 24,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000686381.1:c.-228-4C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509555.1:n.-228-4C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 71,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 71,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687065.1:c.-228-4C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510408.1:n.-228-4C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687394.1:n.139C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 143,
          "endIntronDirection": "+",
          "endIntronOffset": 51,
          "referenceAllele": "C",
          "start": 143,
          "startIntronDirection": "+",
          "startIntronOffset": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687647.1:c.-150+51C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509205.1:n.-150+51C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000688035.1:n.59C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63,
          "referenceAllele": "C",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000688281.1:n.63C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000689820.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509387.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000509387.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690315.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509834.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000509834.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61,
          "referenceAllele": "C",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690373.1:n.61C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63,
          "referenceAllele": "C",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690379.1:n.63C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 75,
          "referenceAllele": "C",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690824.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510709.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000510709.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691661.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510185.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000510185.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691862.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509291.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000509291.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 120,
          "referenceAllele": "C",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692208.1:n.120C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833601"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692813.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509080.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000509080.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692972.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510753.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000510753.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000693602.1:n.126C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.7:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000351832.2:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.33C>G"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.33C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Phe11Leu"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Phe11Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000237724.9:n.110C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS249017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150,
          "referenceAllele": "C",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.6:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000351832.2:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000462353.1:n.57C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "referenceAllele": "C",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000474178.1:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420156.1:p.Phe11Leu",
        "hgvsWellDefined": "ENSP00000420156.1:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33,
          "referenceAllele": "C",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000475769.1:n.33C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316975"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000478976.1:n.126C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499276765",
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.3:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Phe11Leu",
        "hgvsWellDefined": "NP_036546.2:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499276765",
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.4:c.33C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Phe11Leu",
        "hgvsWellDefined": "NP_036546.2:p.Phe11Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.33C>G"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.33C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Phe11Leu"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Phe11Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}