{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA234739",
  "communityStandardTitle": [
    "NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1948751",
        "active": true,
        "id": "COSM1948751"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48992[alleleid]",
        "alleleId": 48992,
        "preferredName": "NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40522",
        "RCV": [
          "RCV000037658",
          "RCV000153788",
          "RCV000234910",
          "RCV000477501",
          "RCV000723292",
          "RCV000988915",
          "RCV001253554",
          "RCV001536068",
          "RCV002415447"
        ],
        "variationId": 40522
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-112910785-G-A",
        "id": "12-112910785-G-A",
        "variant": "12:112910785 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.112910785G>A?assembly=hg19",
        "id": "chr12:g.112910785G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.112472981G>A?assembly=hg38",
        "id": "chr12:g.112472981G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376607329",
        "rs": 376607329
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-112910785-G-A?dataset=gnomad_r2_1",
        "id": "12-112910785-G-A",
        "variant": "12:112910785 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-112472981-G-A?dataset=gnomad_r3",
        "id": "12-112472981-G-A",
        "variant": "12:112472981 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-112472981-G-A?dataset=gnomad_r4",
        "id": "12-112472981-G-A",
        "variant": "12:112472981 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 112472981,
          "referenceAllele": "G",
          "start": 112472980
        }
      ],
      "hgvs": [
        "NC_000012.12:g.112472981G>A",
        "CM000674.2:g.112472981G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 112910785,
          "referenceAllele": "G",
          "start": 112910784
        }
      ],
      "hgvs": [
        "NC_000012.11:g.112910785G>A",
        "CM000674.1:g.112910785G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 111395168,
          "referenceAllele": "G",
          "start": 111395167
        }
      ],
      "hgvs": [
        "NC_000012.10:g.111395168G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59250,
          "referenceAllele": "G",
          "start": 59249
        }
      ],
      "hgvs": [
        "NG_007459.1:g.59250G>A",
        "LRG_614:g.59250G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000585"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000639857.2:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491593.2:p.Arg265Gln",
        "hgvsWellDefined": "ENSP00000491593.2:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000685487.1:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508503.1:p.Arg265Gln",
        "hgvsWellDefined": "ENSP00000508503.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000687906.1:c.680G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509536.1:p.Arg227Gln",
        "hgvsWellDefined": "ENSP00000509536.1:p.Arg227Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000688597.1:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510628.1:p.Arg265Gln",
        "hgvsWellDefined": "ENSP00000510628.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000690210.1:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509272.1:p.Arg265Gln",
        "hgvsWellDefined": "ENSP00000509272.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000692624.1:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508953.1:p.Arg265Gln",
        "hgvsWellDefined": "ENSP00000508953.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000351677.7:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340944.3:p.Arg265Gln",
        "hgvsWellDefined": "ENSP00000340944.3:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000351677.7:c.794G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002834.5:c.794G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340944.3:p.Arg265Gln"
          },
          "RefSeq": {
            "hgvs": "NP_002825.3:p.Arg265Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "referenceAllele": "G",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000351677.6:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340944.2:p.Arg265Gln",
        "hgvsWellDefined": "ENSP00000340944.2:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000392597.5:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376376.1:p.Arg265Gln",
        "hgvsWellDefined": "ENSP00000376376.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000635625.1:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489597.1:p.Arg265Gln",
        "hgvsWellDefined": "ENSP00000489597.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA234741",
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_002834.3:c.794G>A",
        "LRG_614t1:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002825.3:p.Arg265Gln",
        "hgvsWellDefined": "NP_002825.3:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916056535",
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_080601.1:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542168.1:p.Arg265Gln",
        "hgvsWellDefined": "NP_542168.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_006719526.1:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719589.1:p.Arg265Gln",
        "hgvsWellDefined": "XP_006719589.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_006719527.1:c.680G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719590.1:p.Arg227Gln",
        "hgvsWellDefined": "XP_006719590.1:p.Arg227Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_011538613.1:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536915.1:p.Arg264Gln",
        "hgvsWellDefined": "XP_011536915.1:p.Arg264Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827313095",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_001330437.1:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317366.1:p.Arg265Gln",
        "hgvsWellDefined": "NP_001317366.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA234741",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_002834.4:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002825.3:p.Arg265Gln",
        "hgvsWellDefined": "NP_002825.3:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916056535",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_080601.2:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542168.1:p.Arg265Gln",
        "hgvsWellDefined": "NP_542168.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_011538613.2:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536915.1:p.Arg264Gln",
        "hgvsWellDefined": "XP_011536915.1:p.Arg264Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_017019722.1:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875211.1:p.Arg264Gln",
        "hgvsWellDefined": "XP_016875211.1:p.Arg264Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827313095",
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_001330437.2:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317366.1:p.Arg265Gln",
        "hgvsWellDefined": "NP_001317366.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828530581",
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_001374625.1:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361554.1:p.Arg264Gln",
        "hgvsWellDefined": "NP_001361554.1:p.Arg264Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA234741",
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_002834.5:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002825.3:p.Arg265Gln",
        "hgvsWellDefined": "NP_002825.3:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000351677.7:c.794G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002834.5:c.794G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340944.3:p.Arg265Gln"
          },
          "RefSeq": {
            "hgvs": "NP_002825.3:p.Arg265Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916056535",
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_080601.3:c.794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542168.1:p.Arg265Gln",
        "hgvsWellDefined": "NP_542168.1:p.Arg265Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699517"
    }
  ],
  "type": "nucleotide"
}