{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042785",
  "communityStandardTitle": [
    "NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359938[alleleid]",
        "alleleId": 359938,
        "preferredName": "NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372488",
        "RCV": [
          "RCV000414066",
          "RCV000542154",
          "RCV003476001"
        ],
        "variationId": 372488
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36597828A>G?assembly=hg19",
        "id": "chr11:g.36597828A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36576278A>G?assembly=hg38",
        "id": "chr11:g.36576278A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/539590514",
        "rs": 539590514
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36597828-A-G?dataset=gnomad_r2_1",
        "id": "11-36597828-A-G",
        "variant": "11:36597828 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36576278-A-G?dataset=gnomad_r3",
        "id": "11-36576278-A-G",
        "variant": "11:36576278 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36576278-A-G?dataset=gnomad_r4",
        "id": "11-36576278-A-G",
        "variant": "11:36576278 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 36576278,
          "referenceAllele": "A",
          "start": 36576277
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36576278A>G",
        "CM000673.2:g.36576278A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 36597828,
          "referenceAllele": "A",
          "start": 36597827
        }
      ],
      "hgvs": [
        "NC_000011.9:g.36597828A>G",
        "CM000673.1:g.36597828A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 36554404,
          "referenceAllele": "A",
          "start": 36554403
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36554404A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13266,
          "referenceAllele": "A",
          "start": 13265
        }
      ],
      "hgvs": [
        "NG_007528.1:g.13266A>G",
        "LRG_98:g.13266A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3270,
          "referenceAllele": "A",
          "start": 3269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697713.1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513411.1:p.Lys992Glu",
        "hgvsWellDefined": "ENSP00000513411.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3154,
          "referenceAllele": "A",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697714.1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513412.1:p.Lys992Glu",
        "hgvsWellDefined": "ENSP00000513412.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3397,
          "referenceAllele": "A",
          "start": 3396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697715.1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513413.1:p.Lys992Glu",
        "hgvsWellDefined": "ENSP00000513413.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3104,
          "referenceAllele": "A",
          "start": 3103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.6:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Lys992Glu",
        "hgvsWellDefined": "ENSP00000299440.5:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.2974A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.2974A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Lys992Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Lys992Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3086,
          "referenceAllele": "A",
          "start": 3085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.5:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Lys992Glu",
        "hgvsWellDefined": "ENSP00000299440.5:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 131,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "T",
          "start": 131,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "ENST00000524423.1:n.132-307T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3425,
          "endIntronDirection": "+",
          "endIntronOffset": 185,
          "referenceAllele": "A",
          "start": 3425,
          "startIntronDirection": "+",
          "startIntronOffset": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000534663.1:c.2789+185A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434610.1:n.2789+185A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359238"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426893",
      "coordinates": [
        {
          "allele": "G",
          "end": 3098,
          "referenceAllele": "A",
          "start": 3097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.2:c.2974A>G",
        "LRG_98t1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.1:p.Lys992Glu",
        "hgvsWellDefined": "NP_000439.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3126,
          "referenceAllele": "A",
          "start": 3125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.3:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Lys992Glu",
        "hgvsWellDefined": "XP_005253098.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3240,
          "referenceAllele": "A",
          "start": 3239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Lys992Glu",
        "hgvsWellDefined": "XP_011518552.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3338,
          "referenceAllele": "A",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520251.1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518553.1:p.Lys992Glu",
        "hgvsWellDefined": "XP_011518553.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3160,
          "referenceAllele": "A",
          "start": 3159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.4:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Lys992Glu",
        "hgvsWellDefined": "XP_005253098.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3274,
          "referenceAllele": "A",
          "start": 3273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.2:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Lys992Glu",
        "hgvsWellDefined": "XP_011518552.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825177750",
      "coordinates": [
        {
          "allele": "G",
          "end": 3104,
          "referenceAllele": "A",
          "start": 3103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.3:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.2:p.Lys992Glu",
        "hgvsWellDefined": "NP_000439.2:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.2974A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.2974A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Lys992Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Lys992Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828707105",
      "coordinates": [
        {
          "allele": "G",
          "end": 3447,
          "referenceAllele": "A",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377277.1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364206.1:p.Lys992Glu",
        "hgvsWellDefined": "NP_001364206.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828707786",
      "coordinates": [
        {
          "allele": "G",
          "end": 3385,
          "referenceAllele": "A",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377278.1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364207.1:p.Lys992Glu",
        "hgvsWellDefined": "NP_001364207.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828708467",
      "coordinates": [
        {
          "allele": "G",
          "end": 3287,
          "referenceAllele": "A",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377279.1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364208.1:p.Lys992Glu",
        "hgvsWellDefined": "NP_001364208.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573074465",
      "coordinates": [
        {
          "allele": "G",
          "end": 3173,
          "referenceAllele": "A",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377280.1:c.2974A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364209.1:p.Lys992Glu",
        "hgvsWellDefined": "NP_001364209.1:p.Lys992Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695066"
    }
  ],
  "type": "nucleotide"
}