{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2098131",
  "communityStandardTitle": [
    "NM_014140.4(SMARCAL1):c.2142-15C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1622898[alleleid]",
        "alleleId": 1622898,
        "preferredName": "NM_014140.4(SMARCAL1):c.2142-15C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1567256",
        "RCV": [
          "RCV002214739"
        ],
        "variationId": 1567256
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-217332652-C-A",
        "id": "2-217332652-C-A",
        "variant": "2:217332652 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.217332652C>A?assembly=hg19",
        "id": "chr2:g.217332652C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.216467929C>A?assembly=hg38",
        "id": "chr2:g.216467929C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371522763",
        "rs": 371522763
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-217332652-C-A?dataset=gnomad_r2_1",
        "id": "2-217332652-C-A",
        "variant": "2:217332652 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-216467929-C-A?dataset=gnomad_r3",
        "id": "2-216467929-C-A",
        "variant": "2:216467929 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-216467929-C-A?dataset=gnomad_r4",
        "id": "2-216467929-C-A",
        "variant": "2:216467929 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 216467929,
          "referenceAllele": "C",
          "start": 216467928
        }
      ],
      "hgvs": [
        "NC_000002.12:g.216467929C>A",
        "CM000664.2:g.216467929C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 217332652,
          "referenceAllele": "C",
          "start": 217332651
        }
      ],
      "hgvs": [
        "NC_000002.11:g.217332652C>A",
        "CM000664.1:g.217332652C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 217040897,
          "referenceAllele": "C",
          "start": 217040896
        }
      ],
      "hgvs": [
        "NC_000002.10:g.217040897C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60516,
          "referenceAllele": "C",
          "start": 60515
        }
      ],
      "hgvs": [
        "NG_009771.1:g.60516C>A",
        "LRG_108:g.60516C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001631"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2393,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2393,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000425815.6:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394410.2:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2426,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2426,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000430374.6:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405077.2:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2461,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000444508.6:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398969.2:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2502,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2502,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697898.1:n.2503-15C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2192,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2192,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697899.1:c.1908-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513470.1:n.1908-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2379,
          "endIntronDirection": "+",
          "endIntronOffset": 3262,
          "referenceAllele": "C",
          "start": 2379,
          "startIntronDirection": "+",
          "startIntronOffset": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697901.1:c.*999+3262C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513471.1:n.*999+3262C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2222,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2222,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697903.1:c.*629-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513472.1:n.*629-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2150,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2150,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697904.1:c.*629-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513473.1:n.*629-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2186,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2186,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697905.1:c.*629-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513474.1:n.*629-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2051,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2051,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697906.1:c.1908-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513475.1:n.1908-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2271,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697907.1:c.*1000-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513476.1:n.*1000-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1938,
          "endIntronDirection": "+",
          "endIntronOffset": 3262,
          "referenceAllele": "C",
          "start": 1938,
          "startIntronDirection": "+",
          "startIntronOffset": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697908.1:n.1938+3262C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1033,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 1033,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697909.1:n.1034-15C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2401,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2401,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.9:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.2142-15C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.2142-15C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:n.2142-15C>A"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:n.2142-15C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2471,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2471,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.8:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2292,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2292,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000358207.9:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350940.5:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1667,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 1667,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000392128.6:c.1668-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375974.2:n.1668-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2285,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2285,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.1:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2471,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2471,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.3:c.2142-15C>A",
        "LRG_108t1:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2409,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2409,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246631.2:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246688.1:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2461,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.1:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2388,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2388,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_006712557.1:c.2076-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712620.1:n.2076-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2402,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2402,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.2:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2263,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2263,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_017004228.2:c.1230-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859717.1:n.1230-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2270,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2270,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.2:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2401,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "C",
          "start": 2401,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.4:c.2142-15C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:n.2142-15C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.2142-15C>A"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.2142-15C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:n.2142-15C>A"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:n.2142-15C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}