{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6153540",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5051101",
        "active": true,
        "id": "COSM5051101"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=327867[alleleid]",
        "alleleId": 327867,
        "preferredName": "NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/305843",
        "RCV": [
          "RCV000308054",
          "RCV001397488",
          "RCV002338882"
        ],
        "variationId": 305843
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-68696784-G-A",
        "id": "11-68696784-G-A",
        "variant": "11:68696784 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68696784G>A?assembly=hg19",
        "id": "chr11:g.68696784G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68929316G>A?assembly=hg38",
        "id": "chr11:g.68929316G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745534850",
        "rs": 745534850
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68696784-G-A?dataset=gnomad_r2_1",
        "id": "11-68696784-G-A",
        "variant": "11:68696784 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68929316-G-A?dataset=gnomad_r3",
        "id": "11-68929316-G-A",
        "variant": "11:68929316 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68929316-G-A?dataset=gnomad_r4",
        "id": "11-68929316-G-A",
        "variant": "11:68929316 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68929316,
          "referenceAllele": "G",
          "start": 68929315
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68929316G>A",
        "CM000673.2:g.68929316G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68696784,
          "referenceAllele": "G",
          "start": 68696783
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68696784G>A",
        "CM000673.1:g.68696784G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68453360,
          "referenceAllele": "G",
          "start": 68453359
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68453360G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30466,
          "referenceAllele": "G",
          "start": 30465
        }
      ],
      "hgvs": [
        "NG_007976.1:g.30466G>A",
        "LRG_250:g.30466G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "referenceAllele": "G",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Ala398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.1194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.1194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Ala398="
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Ala398="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674698.1:n.134G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674745.1:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502738.1:n.359G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 394,
          "referenceAllele": "G",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674775.1:n.394G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674955.1:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502463.1:p.Ala398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "G",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675118.1:c.682G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675305.1:c.514G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502365.1:n.514G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675310.1:n.134G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675493.1:n.355G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:p.Ala398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "referenceAllele": "G",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675648.1:n.569G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675684.1:c.321G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502192.1:p.Ala107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675755.1:n.134G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676083.1:n.134G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1238,
          "referenceAllele": "G",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.1238G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1186,
          "referenceAllele": "G",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676228.1:c.*517G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502375.1:n.*517G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676240.1:n.134G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676400.1:n.134G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Ala398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000568742.1:n.304G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829361932",
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.1194G>A",
        "LRG_250t1:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Ala398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.183G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:p.Ala61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273976.1:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274033.1:p.Ala398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_247198.1:n.1296G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.1296G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273976.2:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274033.1:p.Ala398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "G",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.183G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:p.Ala61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2015,
          "referenceAllele": "G",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017670.2:c.183G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873159.1:p.Ala61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017671.2:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873160.1:p.Ala398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.1292G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829361932",
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "referenceAllele": "G",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Ala398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.1194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.1194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Ala398="
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Ala398="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}