{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350501132",
  "communityStandardTitle": [
    "NM_014140.4(SMARCAL1):c.1645-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1055194[alleleid]",
        "alleleId": 1055194,
        "preferredName": "NM_014140.4(SMARCAL1):c.1645-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1066618",
        "RCV": [
          "RCV001377657"
        ],
        "variationId": 1066618
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.217303141A>G?assembly=hg19",
        "id": "chr2:g.217303141A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.216438418A>G?assembly=hg38",
        "id": "chr2:g.216438418A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2106040403",
        "rs": 2106040403
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 216438418,
          "referenceAllele": "A",
          "start": 216438417
        }
      ],
      "hgvs": [
        "NC_000002.12:g.216438418A>G",
        "CM000664.2:g.216438418A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 217303141,
          "referenceAllele": "A",
          "start": 217303140
        }
      ],
      "hgvs": [
        "NC_000002.11:g.217303141A>G",
        "CM000664.1:g.217303141A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 217011386,
          "referenceAllele": "A",
          "start": 217011385
        }
      ],
      "hgvs": [
        "NC_000002.10:g.217011386A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31005,
          "referenceAllele": "A",
          "start": 31004
        }
      ],
      "hgvs": [
        "NG_009771.1:g.31005A>G",
        "LRG_108:g.31005A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001631"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1896,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1896,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000425815.6:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394410.2:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1929,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1929,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000430374.6:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405077.2:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1964,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1964,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000444508.6:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398969.2:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2005,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2005,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697898.1:n.2006-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1695,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1695,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697899.1:c.1411-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513470.1:n.1411-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1882,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1882,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697901.1:c.*503-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513471.1:n.*503-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1876,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1876,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697902.1:n.1877-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1725,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1725,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697903.1:c.*132-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513472.1:n.*132-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1653,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1653,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697904.1:c.*132-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513473.1:n.*132-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1689,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697905.1:c.*132-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513474.1:n.*132-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1554,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697906.1:c.1411-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513475.1:n.1411-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1774,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697907.1:c.*503-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513476.1:n.*503-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1441,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1441,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697908.1:n.1442-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 536,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697909.1:n.537-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1904,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1904,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.9:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1645-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.1645-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:n.1645-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:n.1645-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1974,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.8:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1795,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000358207.9:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350940.5:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1236,
          "endIntronDirection": "+",
          "endIntronOffset": 2922,
          "referenceAllele": "A",
          "start": 1236,
          "startIntronDirection": "+",
          "startIntronOffset": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000392128.6:c.1236+2922A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375974.2:n.1236+2922A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 317,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000445153.1:c.318-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1788,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1788,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.1:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1974,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.3:c.1645-2A>G",
        "LRG_108t1:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1912,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1912,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246631.2:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246688.1:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1964,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1964,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.1:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1957,
          "endIntronDirection": "+",
          "endIntronOffset": 2922,
          "referenceAllele": "A",
          "start": 1957,
          "startIntronDirection": "+",
          "startIntronOffset": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_006712557.1:c.1644+2922A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712620.1:n.1644+2922A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1905,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1905,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.2:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1766,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_017004228.2:c.733-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859717.1:n.733-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1773,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1773,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.2:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1904,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1904,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.4:c.1645-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:n.1645-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1645-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.1645-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:n.1645-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:n.1645-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}