{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA380144592",
  "communityStandardTitle": [
    "NM_000536.4(RAG2):c.110C>T (p.Pro37Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017451[alleleid]",
        "alleleId": 1017451,
        "preferredName": "NM_000536.4(RAG2):c.110C>T (p.Pro37Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029902",
        "RCV": [
          "RCV001331310",
          "RCV003227961"
        ],
        "variationId": 1029902
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36615609G>A?assembly=hg19",
        "id": "chr11:g.36615609G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36594059G>A?assembly=hg38",
        "id": "chr11:g.36594059G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1851104914",
        "rs": 1851104914
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 36594059,
          "referenceAllele": "G",
          "start": 36594058
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36594059G>A",
        "CM000673.2:g.36594059G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 36615609,
          "referenceAllele": "G",
          "start": 36615608
        }
      ],
      "hgvs": [
        "NC_000011.9:g.36615609G>A",
        "CM000673.1:g.36615609G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 36572185,
          "referenceAllele": "G",
          "start": 36572184
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36572185G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9178,
          "referenceAllele": "C",
          "start": 9177
        }
      ],
      "hgvs": [
        "NG_007573.1:g.9178C>T",
        "LRG_99:g.9178C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4567,
          "referenceAllele": "G",
          "start": 4566
        }
      ],
      "hgvs": [
        "NG_033154.1:g.4567G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005465"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000527033.6:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436895.2:p.Pro37Leu",
        "hgvsWellDefined": "ENSP00000436895.2:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000529083.2:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436327.2:p.Pro37Leu",
        "hgvsWellDefined": "ENSP00000436327.2:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000532616.2:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432174.2:p.Pro37Leu",
        "hgvsWellDefined": "ENSP00000432174.2:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000311485.8:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308620.4:p.Pro37Leu",
        "hgvsWellDefined": "ENSP00000308620.4:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311485.8:c.110C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000536.4:c.110C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308620.4:p.Pro37Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000527.2:p.Pro37Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000311485.7:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308620.3:p.Pro37Leu",
        "hgvsWellDefined": "ENSP00000308620.3:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 131,
          "endIntronDirection": "+",
          "endIntronOffset": 4043,
          "referenceAllele": "C",
          "start": 131,
          "startIntronDirection": "+",
          "startIntronOffset": 4042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000524423.1:n.131+4043C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000527033.5:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436895.1:p.Pro37Leu",
        "hgvsWellDefined": "ENSP00000436895.1:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000529083.1:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436327.1:p.Pro37Leu",
        "hgvsWellDefined": "ENSP00000436327.1:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000618712.4:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478672.1:p.Pro37Leu",
        "hgvsWellDefined": "ENSP00000478672.1:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825193798",
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_000536.3:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000527.2:p.Pro37Leu",
        "hgvsWellDefined": "NP_000527.2:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006594"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826338781",
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_001243785.1:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230714.1:p.Pro37Leu",
        "hgvsWellDefined": "NP_001230714.1:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499242512",
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_001243786.1:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230715.1:p.Pro37Leu",
        "hgvsWellDefined": "NP_001230715.1:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825193798",
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_000536.4:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000527.2:p.Pro37Leu",
        "hgvsWellDefined": "NP_000527.2:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311485.8:c.110C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000536.4:c.110C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308620.4:p.Pro37Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000527.2:p.Pro37Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826338781",
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_001243785.2:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230714.1:p.Pro37Leu",
        "hgvsWellDefined": "NP_001230714.1:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499242512",
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_001243786.2:c.110C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230715.1:p.Pro37Leu",
        "hgvsWellDefined": "NP_001230715.1:p.Pro37Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714525"
    }
  ],
  "type": "nucleotide"
}