{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2097613",
  "communityStandardTitle": [
    "NM_014140.4(SMARCAL1):c.565A>G (p.Lys189Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=557878[alleleid]",
        "alleleId": 557878,
        "preferredName": "NM_014140.4(SMARCAL1):c.565A>G (p.Lys189Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/568780",
        "RCV": [
          "RCV000689239"
        ],
        "variationId": 568780
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-217279992-A-G",
        "id": "2-217279992-A-G",
        "variant": "2:217279992 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.217279992A>G?assembly=hg19",
        "id": "chr2:g.217279992A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.216415269A>G?assembly=hg38",
        "id": "chr2:g.216415269A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754147208",
        "rs": 754147208
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-217279992-A-G?dataset=gnomad_r2_1",
        "id": "2-217279992-A-G",
        "variant": "2:217279992 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-216415269-A-G?dataset=gnomad_r4",
        "id": "2-216415269-A-G",
        "variant": "2:216415269 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 216415269,
          "referenceAllele": "A",
          "start": 216415268
        }
      ],
      "hgvs": [
        "NC_000002.12:g.216415269A>G",
        "CM000664.2:g.216415269A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 217279992,
          "referenceAllele": "A",
          "start": 217279991
        }
      ],
      "hgvs": [
        "NC_000002.11:g.217279992A>G",
        "CM000664.1:g.217279992A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 216988237,
          "referenceAllele": "A",
          "start": 216988236
        }
      ],
      "hgvs": [
        "NC_000002.10:g.216988237A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7856,
          "referenceAllele": "A",
          "start": 7855
        }
      ],
      "hgvs": [
        "NG_009771.1:g.7856A>G",
        "LRG_108:g.7856A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001631"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "referenceAllele": "A",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000425815.6:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394410.2:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000394410.2:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "referenceAllele": "A",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000430374.6:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405077.2:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000405077.2:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "A",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000444508.6:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398969.2:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000398969.2:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "referenceAllele": "A",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697898.1:n.926A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "referenceAllele": "A",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697899.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513470.1:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000513470.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "A",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697900.1:n.841A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "A",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697901.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513471.1:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000513471.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "referenceAllele": "A",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697902.1:n.797A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "referenceAllele": "A",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697903.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513472.1:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000513472.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "A",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697904.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513473.1:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000513473.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "referenceAllele": "A",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697905.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513474.1:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000513474.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697906.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513475.1:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000513475.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "referenceAllele": "A",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697907.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513476.1:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000513476.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 825,
          "referenceAllele": "A",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.9:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000349823.4:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.565A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.565A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:p.Lys189Glu"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:p.Lys189Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "A",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.8:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000349823.4:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000358207.9:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350940.5:p.Lys189Glu",
        "hgvsWellDefined": "ENSP00000350940.5:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157,
          "referenceAllele": "A",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000392128.6:c.157A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375974.2:p.Lys53Glu",
        "hgvsWellDefined": "ENSP00000375974.2:p.Lys53Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 262,
          "referenceAllele": "A",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000427645.5:c.262A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392997.1:p.Lys88Glu",
        "hgvsWellDefined": "ENSP00000392997.1:p.Lys88Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825629569",
      "coordinates": [
        {
          "allele": "G",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:p.Lys189Glu",
        "hgvsWellDefined": "NP_001120679.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891854732",
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "A",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.3:c.565A>G",
        "LRG_108t1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:p.Lys189Glu",
        "hgvsWellDefined": "NP_054859.2:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 833,
          "referenceAllele": "A",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246631.2:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246688.1:p.Lys189Glu",
        "hgvsWellDefined": "XP_005246688.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "A",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Lys189Glu",
        "hgvsWellDefined": "XP_005246689.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "referenceAllele": "A",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_006712557.1:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712620.1:p.Lys189Glu",
        "hgvsWellDefined": "XP_006712620.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.2:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Lys189Glu",
        "hgvsWellDefined": "XP_005246689.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 683,
          "referenceAllele": "A",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_017004228.2:c.-352A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859717.1:n.-352A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825629569",
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "referenceAllele": "A",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.2:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:p.Lys189Glu",
        "hgvsWellDefined": "NP_001120679.1:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891854732",
      "coordinates": [
        {
          "allele": "G",
          "end": 825,
          "referenceAllele": "A",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.4:c.565A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:p.Lys189Glu",
        "hgvsWellDefined": "NP_054859.2:p.Lys189Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.565A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.565A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:p.Lys189Glu"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:p.Lys189Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}