{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381648742",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2043132",
        "active": true,
        "id": "COSM2043132"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=625232[alleleid]",
        "alleleId": 625232,
        "preferredName": "NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/637695",
        "RCV": [
          "RCV000789974",
          "RCV000853264",
          "RCV000806743",
          "RCV003489865"
        ],
        "variationId": 637695
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68700804C>T?assembly=hg19",
        "id": "chr11:g.68700804C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68933336C>T?assembly=hg38",
        "id": "chr11:g.68933336C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1303837541",
        "rs": 1303837541
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68700804-C-T?dataset=gnomad_r2_1",
        "id": "11-68700804-C-T",
        "variant": "11:68700804 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68933336-C-T?dataset=gnomad_r3",
        "id": "11-68933336-C-T",
        "variant": "11:68933336 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68933336-C-T?dataset=gnomad_r4",
        "id": "11-68933336-C-T",
        "variant": "11:68933336 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68933336,
          "referenceAllele": "C",
          "start": 68933335
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68933336C>T",
        "CM000673.2:g.68933336C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68700804,
          "referenceAllele": "C",
          "start": 68700803
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68700804C>T",
        "CM000673.1:g.68700804C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68457380,
          "referenceAllele": "C",
          "start": 68457379
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68457380C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34486,
          "referenceAllele": "C",
          "start": 34485
        }
      ],
      "hgvs": [
        "NG_007976.1:g.34486C>T",
        "LRG_250:g.34486C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Arg425Cys",
        "hgvsWellDefined": "ENSP00000255078.4:p.Arg425Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.1273C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.1273C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Arg425Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Arg425Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000536803.2:n.184C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674955.1:c.1385C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502463.1:p.Thr462Met",
        "hgvsWellDefined": "ENSP00000502463.1:p.Thr462Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675118.1:c.761C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "referenceAllele": "C",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675205.1:n.38C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675310.1:n.410C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:p.Arg425Cys",
        "hgvsWellDefined": "ENSP00000502413.1:p.Arg425Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675648.1:n.648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112,
          "endIntronDirection": "-",
          "endIntronOffset": 1127,
          "referenceAllele": "C",
          "start": 112,
          "startIntronDirection": "-",
          "startIntronOffset": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675997.1:n.113-1128C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676149.1:n.347C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2018,
          "referenceAllele": "C",
          "start": 2017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.2018C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676228.1:c.*596C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502375.1:n.*596C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Arg425Cys",
        "hgvsWellDefined": "ENSP00000255078.3:p.Arg425Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000536803.1:n.382C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000537458.5:n.390C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539064.5:n.1032C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000543739.5:n.390C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000568742.1:n.495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915985772",
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.1273C>T",
        "LRG_250t1:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Arg425Cys",
        "hgvsWellDefined": "NP_002171.2:p.Arg425Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:p.Arg88Cys",
        "hgvsWellDefined": "XP_005274031.1:p.Arg88Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.2:c.145C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Arg49Cys",
        "hgvsWellDefined": "XP_005274032.1:p.Arg49Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_011544994.1:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543296.1:p.Arg14Cys",
        "hgvsWellDefined": "XP_011543296.1:p.Arg14Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_247198.1:n.2076C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.1375C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.3:c.145C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Arg49Cys",
        "hgvsWellDefined": "XP_005274032.1:p.Arg49Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1221,
          "referenceAllele": "C",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:p.Arg88Cys",
        "hgvsWellDefined": "XP_016873158.1:p.Arg88Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2094,
          "referenceAllele": "C",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017670.2:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873159.1:p.Arg88Cys",
        "hgvsWellDefined": "XP_016873159.1:p.Arg88Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1371,
          "referenceAllele": "C",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017671.2:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873160.1:p.Arg425Cys",
        "hgvsWellDefined": "XP_016873160.1:p.Arg425Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1371,
          "referenceAllele": "C",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.1371C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915985772",
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Arg425Cys",
        "hgvsWellDefined": "NP_002171.2:p.Arg425Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.1273C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.1273C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Arg425Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Arg425Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}