{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381648752",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=461439[alleleid]",
        "alleleId": 461439,
        "preferredName": "NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/466575",
        "RCV": [
          "RCV000557849"
        ],
        "variationId": 466575
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68700808T>G?assembly=hg19",
        "id": "chr11:g.68700808T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68933340T>G?assembly=hg38",
        "id": "chr11:g.68933340T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555247218",
        "rs": 1555247218
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68933340-T-G?dataset=gnomad_r3",
        "id": "11-68933340-T-G",
        "variant": "11:68933340 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68933340-T-G?dataset=gnomad_r4",
        "id": "11-68933340-T-G",
        "variant": "11:68933340 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68933340,
          "referenceAllele": "T",
          "start": 68933339
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68933340T>G",
        "CM000673.2:g.68933340T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68700808,
          "referenceAllele": "T",
          "start": 68700807
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68700808T>G",
        "CM000673.1:g.68700808T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68457384,
          "referenceAllele": "T",
          "start": 68457383
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68457384T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34490,
          "referenceAllele": "T",
          "start": 34489
        }
      ],
      "hgvs": [
        "NG_007976.1:g.34490T>G",
        "LRG_250:g.34490T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "T",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.1277T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Leu426Arg",
        "hgvsWellDefined": "ENSP00000255078.4:p.Leu426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.1277T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.1277T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Leu426Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Leu426Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 188,
          "referenceAllele": "T",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000536803.2:n.188T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "T",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674955.1:c.1389T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502463.1:p.Pro463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "T",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675118.1:c.765T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42,
          "referenceAllele": "T",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675205.1:n.42T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "T",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675310.1:n.414T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "T",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.1277T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:p.Leu426Arg",
        "hgvsWellDefined": "ENSP00000502413.1:p.Leu426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "T",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675648.1:n.652T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "endIntronDirection": "-",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 112,
          "startIntronDirection": "-",
          "startIntronOffset": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675997.1:n.113-1124T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "referenceAllele": "T",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676149.1:n.351T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2022,
          "referenceAllele": "T",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.2022T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676228.1:c.*600T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502375.1:n.*600T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1388,
          "referenceAllele": "T",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.1277T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Leu426Arg",
        "hgvsWellDefined": "ENSP00000255078.3:p.Leu426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000536803.1:n.386T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 394,
          "referenceAllele": "T",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000537458.5:n.394T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1036,
          "referenceAllele": "T",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539064.5:n.1036T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 394,
          "referenceAllele": "T",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000543739.5:n.394T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "T",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000568742.1:n.499T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658675227",
      "coordinates": [
        {
          "allele": "G",
          "end": 1379,
          "referenceAllele": "T",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.1277T>G",
        "LRG_250t1:c.1277T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Leu426Arg",
        "hgvsWellDefined": "NP_002171.2:p.Leu426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1343,
          "referenceAllele": "T",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.266T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:p.Leu89Arg",
        "hgvsWellDefined": "XP_005274031.1:p.Leu89Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.2:c.149T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Leu50Arg",
        "hgvsWellDefined": "XP_005274032.1:p.Leu50Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "T",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_011544994.1:c.44T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543296.1:p.Leu15Arg",
        "hgvsWellDefined": "XP_011543296.1:p.Leu15Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2080,
          "referenceAllele": "T",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_247198.1:n.2080T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1379,
          "referenceAllele": "T",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.1379T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.3:c.149T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Leu50Arg",
        "hgvsWellDefined": "XP_005274032.1:p.Leu50Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1225,
          "referenceAllele": "T",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.266T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:p.Leu89Arg",
        "hgvsWellDefined": "XP_016873158.1:p.Leu89Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2098,
          "referenceAllele": "T",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017670.2:c.266T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873159.1:p.Leu89Arg",
        "hgvsWellDefined": "XP_016873159.1:p.Leu89Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1375,
          "referenceAllele": "T",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017671.2:c.1277T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873160.1:p.Leu426Arg",
        "hgvsWellDefined": "XP_016873160.1:p.Leu426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1375,
          "referenceAllele": "T",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.1375T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658675227",
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "T",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.1277T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Leu426Arg",
        "hgvsWellDefined": "NP_002171.2:p.Leu426Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.1277T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.1277T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Leu426Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Leu426Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}