{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA378258254",
  "communityStandardTitle": [
    "NM_000278.5(PAX2):c.418C>T (p.Arg140Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1055885[alleleid]",
        "alleleId": 1055885,
        "preferredName": "NM_000278.5(PAX2):c.418C>T (p.Arg140Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1066591",
        "RCV": [
          "RCV001377630",
          "RCV004531187"
        ],
        "variationId": 1066591
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102539262C>T?assembly=hg19",
        "id": "chr10:g.102539262C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.100779505C>T?assembly=hg38",
        "id": "chr10:g.100779505C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1217241110",
        "rs": 1217241110
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102539262-C-T?dataset=gnomad_r2_1",
        "id": "10-102539262-C-T",
        "variant": "10:102539262 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-100779505-C-T?dataset=gnomad_r4",
        "id": "10-100779505-C-T",
        "variant": "10:100779505 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 100779505,
          "referenceAllele": "C",
          "start": 100779504
        }
      ],
      "hgvs": [
        "NC_000010.11:g.100779505C>T",
        "CM000672.2:g.100779505C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 102539262,
          "referenceAllele": "C",
          "start": 102539261
        }
      ],
      "hgvs": [
        "NC_000010.10:g.102539262C>T",
        "CM000672.1:g.102539262C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 102529252,
          "referenceAllele": "C",
          "start": 102529251
        }
      ],
      "hgvs": [
        "NC_000010.9:g.102529252C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38795,
          "referenceAllele": "C",
          "start": 38794
        }
      ],
      "hgvs": [
        "NG_008680.1:g.38795C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48797,
          "referenceAllele": "C",
          "start": 48796
        }
      ],
      "hgvs": [
        "NG_008680.2:g.48797C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616108"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000707078.1:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516729.1:p.Arg171Trp",
        "hgvsWellDefined": "ENSP00000516729.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000707079.1:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516730.1:p.Arg140Trp",
        "hgvsWellDefined": "ENSP00000516730.1:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000355243.8:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347385.3:p.Arg140Trp",
        "hgvsWellDefined": "ENSP00000347385.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.418C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.418C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Arg140Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Arg140Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000427256.6:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398652.2:p.Arg140Trp",
        "hgvsWellDefined": "ENSP00000398652.2:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000679374.1:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506041.1:p.Arg134Trp",
        "hgvsWellDefined": "ENSP00000506041.1:p.Arg134Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000355243.7:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347385.2:p.Arg140Trp",
        "hgvsWellDefined": "ENSP00000347385.2:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000361791.7:c.415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355069.4:p.Arg139Trp",
        "hgvsWellDefined": "ENSP00000355069.4:p.Arg139Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000370296.6:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359319.3:p.Arg140Trp",
        "hgvsWellDefined": "ENSP00000359319.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000427256.5:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398652.1:p.Arg140Trp",
        "hgvsWellDefined": "ENSP00000398652.1:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000428433.5:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396259.1:p.Arg140Trp",
        "hgvsWellDefined": "ENSP00000396259.1:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000553492.5:n.139C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000554172.2:c.430C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452489.2:p.Arg144Trp",
        "hgvsWellDefined": "ENSP00000452489.2:p.Arg144Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "referenceAllele": "C",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000554363.2:n.133C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.3:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.2:p.Arg140Trp",
        "hgvsWellDefined": "NP_000269.2:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499247352",
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.1:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Arg171Trp",
        "hgvsWellDefined": "NP_001291498.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.3:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.2:p.Arg140Trp",
        "hgvsWellDefined": "NP_003978.2:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479801",
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.3:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Arg140Trp",
        "hgvsWellDefined": "NP_003979.2:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.3:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.2:p.Arg140Trp",
        "hgvsWellDefined": "NP_003980.2:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.3:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.2:p.Arg140Trp",
        "hgvsWellDefined": "NP_003981.2:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138402",
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.4:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Arg140Trp",
        "hgvsWellDefined": "NP_000269.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479474",
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.4:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Arg140Trp",
        "hgvsWellDefined": "NP_003978.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479801",
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.4:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Arg140Trp",
        "hgvsWellDefined": "NP_003979.2:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480209",
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.4:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Arg140Trp",
        "hgvsWellDefined": "NP_003980.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480480",
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.4:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Arg140Trp",
        "hgvsWellDefined": "NP_003981.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138402",
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.5:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Arg140Trp",
        "hgvsWellDefined": "NP_000269.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.418C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.418C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Arg140Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Arg140Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499247352",
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.2:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Arg171Trp",
        "hgvsWellDefined": "NP_001291498.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479474",
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.5:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Arg140Trp",
        "hgvsWellDefined": "NP_003978.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829479801",
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Arg140Trp",
        "hgvsWellDefined": "NP_003979.2:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480209",
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Arg140Trp",
        "hgvsWellDefined": "NP_003980.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480480",
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.5:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Arg140Trp",
        "hgvsWellDefined": "NP_003981.3:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}