{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381649599",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.1422C>G (p.Asp474Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68701266C>G?assembly=hg19",
        "id": "chr11:g.68701266C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68933798C>G?assembly=hg38",
        "id": "chr11:g.68933798C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68933798,
          "referenceAllele": "C",
          "start": 68933797
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68933798C>G",
        "CM000673.2:g.68933798C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68701266,
          "referenceAllele": "C",
          "start": 68701265
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68701266C>G",
        "CM000673.1:g.68701266C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68457842,
          "referenceAllele": "C",
          "start": 68457841
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68457842C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34948,
          "referenceAllele": "C",
          "start": 34947
        }
      ],
      "hgvs": [
        "NG_007976.1:g.34948C>G",
        "LRG_250:g.34948C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.1422C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Asp474Glu",
        "hgvsWellDefined": "ENSP00000255078.4:p.Asp474Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.1422C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.1422C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Asp474Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Asp474Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674955.1:c.*139C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502463.1:n.*139C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675118.1:c.910C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 183,
          "endIntronDirection": "+",
          "endIntronOffset": 317,
          "referenceAllele": "C",
          "start": 183,
          "startIntronDirection": "+",
          "startIntronOffset": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675205.1:n.183+317C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.1422C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:p.Asp474Glu",
        "hgvsWellDefined": "ENSP00000502413.1:p.Asp474Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675648.1:n.797C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 112,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675997.1:n.113-666C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2167,
          "referenceAllele": "C",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.2167C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676228.1:c.*745C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502375.1:n.*745C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1533,
          "referenceAllele": "C",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.1422C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Asp474Glu",
        "hgvsWellDefined": "ENSP00000255078.3:p.Asp474Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000537458.5:n.539C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539064.5:n.1181C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 117,
          "referenceAllele": "C",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000541229.5:n.117C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000543739.5:n.539C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483233",
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.1422C>G",
        "LRG_250t1:c.1422C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Asp474Glu",
        "hgvsWellDefined": "NP_002171.2:p.Asp474Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1488,
          "referenceAllele": "C",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.411C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:p.Asp137Glu",
        "hgvsWellDefined": "XP_005274031.1:p.Asp137Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.2:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Asp98Glu",
        "hgvsWellDefined": "XP_005274032.1:p.Asp98Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1006,
          "referenceAllele": "C",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_011544994.1:c.189C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543296.1:p.Asp63Glu",
        "hgvsWellDefined": "XP_011543296.1:p.Asp63Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.1524C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.3:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Asp98Glu",
        "hgvsWellDefined": "XP_005274032.1:p.Asp98Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.411C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:p.Asp137Glu",
        "hgvsWellDefined": "XP_016873158.1:p.Asp137Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2243,
          "referenceAllele": "C",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017670.2:c.411C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873159.1:p.Asp137Glu",
        "hgvsWellDefined": "XP_016873159.1:p.Asp137Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017671.2:c.1422C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873160.1:p.Asp474Glu",
        "hgvsWellDefined": "XP_016873160.1:p.Asp474Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.1520C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483233",
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.1422C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Asp474Glu",
        "hgvsWellDefined": "NP_002171.2:p.Asp474Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.1422C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.1422C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Asp474Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Asp474Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}