{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1402036",
  "communityStandardTitle": [
    "NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271433[alleleid]",
        "alleleId": 271433,
        "preferredName": "NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287196",
        "RCV": [
          "RCV000658150",
          "RCV001078526",
          "RCV004543099"
        ],
        "variationId": 287196
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-220326552-T-C",
        "id": "1-220326552-T-C",
        "variant": "1:220326552 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220326552T>C?assembly=hg19",
        "id": "chr1:g.220326552T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.220153210T>C?assembly=hg38",
        "id": "chr1:g.220153210T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34081806",
        "rs": 34081806
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220326552-T-C?dataset=gnomad_r2_1",
        "id": "1-220326552-T-C",
        "variant": "1:220326552 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220153210-T-C?dataset=gnomad_r3",
        "id": "1-220153210-T-C",
        "variant": "1:220153210 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-220153210-T-C?dataset=gnomad_r4",
        "id": "1-220153210-T-C",
        "variant": "1:220153210 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 220153210,
          "referenceAllele": "T",
          "start": 220153209
        }
      ],
      "hgvs": [
        "NC_000001.11:g.220153210T>C",
        "CM000663.2:g.220153210T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 220326552,
          "referenceAllele": "T",
          "start": 220326551
        }
      ],
      "hgvs": [
        "NC_000001.10:g.220326552T>C",
        "CM000663.1:g.220326552T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 218393175,
          "referenceAllele": "T",
          "start": 218393174
        }
      ],
      "hgvs": [
        "NC_000001.9:g.218393175T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124292,
          "referenceAllele": "A",
          "start": 124291
        }
      ],
      "hgvs": [
        "NG_015837.1:g.124292A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124292,
          "referenceAllele": "A",
          "start": 124291
        }
      ],
      "hgvs": [
        "NG_015837.2:g.124292A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673647"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1834,
          "referenceAllele": "A",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000474966.2:n.1834A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4868,
          "referenceAllele": "A",
          "start": 4867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000491005.6:n.4868A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4337,
          "referenceAllele": "A",
          "start": 4336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000491305.2:n.4337A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3877,
          "referenceAllele": "A",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685286.1:c.*1167A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509457.1:n.*1167A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3964,
          "referenceAllele": "A",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000685664.1:c.3842A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509121.1:p.Tyr1281Cys",
        "hgvsWellDefined": "ENSP00000509121.1:p.Tyr1281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3830,
          "referenceAllele": "A",
          "start": 3829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000686381.1:c.3578A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509555.1:p.Tyr1193Cys",
        "hgvsWellDefined": "ENSP00000509555.1:p.Tyr1193Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3877,
          "referenceAllele": "A",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687065.1:c.3578A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510408.1:p.Tyr1193Cys",
        "hgvsWellDefined": "ENSP00000510408.1:p.Tyr1193Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3948,
          "referenceAllele": "A",
          "start": 3947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687394.1:n.3948A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3870,
          "referenceAllele": "A",
          "start": 3869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000687647.1:c.3578A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509205.1:p.Tyr1193Cys",
        "hgvsWellDefined": "ENSP00000509205.1:p.Tyr1193Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6852,
          "referenceAllele": "A",
          "start": 6851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000688035.1:n.6852A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3889,
          "referenceAllele": "A",
          "start": 3888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690315.1:c.3743A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509834.1:p.Tyr1248Cys",
        "hgvsWellDefined": "ENSP00000509834.1:p.Tyr1248Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4181,
          "referenceAllele": "A",
          "start": 4180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690373.1:n.4181A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3834,
          "endIntronDirection": "+",
          "endIntronOffset": 50,
          "referenceAllele": "A",
          "start": 3834,
          "startIntronDirection": "+",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000690824.1:c.3792+50A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510709.1:n.3792+50A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3921,
          "referenceAllele": "A",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691661.1:c.3854A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510185.1:p.Tyr1285Cys",
        "hgvsWellDefined": "ENSP00000510185.1:p.Tyr1285Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3807,
          "referenceAllele": "A",
          "start": 3806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000691862.1:c.3740A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509291.1:p.Tyr1247Cys",
        "hgvsWellDefined": "ENSP00000509291.1:p.Tyr1247Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3898,
          "referenceAllele": "A",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692813.1:c.3806A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509080.1:p.Tyr1269Cys",
        "hgvsWellDefined": "ENSP00000509080.1:p.Tyr1269Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4077,
          "referenceAllele": "A",
          "start": 4076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000692972.1:c.3917A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510753.1:p.Tyr1306Cys",
        "hgvsWellDefined": "ENSP00000510753.1:p.Tyr1306Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6428,
          "referenceAllele": "A",
          "start": 6427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000693602.1:n.6428A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3958,
          "referenceAllele": "A",
          "start": 3957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.7:c.3842A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Tyr1281Cys",
        "hgvsWellDefined": "ENSP00000351832.2:p.Tyr1281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.3842A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.3842A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Tyr1281Cys"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Tyr1281Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3959,
          "referenceAllele": "A",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.6:c.3842A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Tyr1281Cys",
        "hgvsWellDefined": "ENSP00000351832.2:p.Tyr1281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "A",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000474966.1:n.513A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 290,
          "referenceAllele": "A",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000491005.5:n.290A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000491305.1:n.658A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645492787",
      "coordinates": [
        {
          "allele": "G",
          "end": 4006,
          "referenceAllele": "A",
          "start": 4005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.3:c.3842A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Tyr1281Cys",
        "hgvsWellDefined": "NP_036546.2:p.Tyr1281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645492787",
      "coordinates": [
        {
          "allele": "G",
          "end": 3958,
          "referenceAllele": "A",
          "start": 3957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.4:c.3842A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Tyr1281Cys",
        "hgvsWellDefined": "NP_036546.2:p.Tyr1281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.3842A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.3842A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Tyr1281Cys"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Tyr1281Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}