{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381644005",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.688C>G (p.Gln230Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=480537[alleleid]",
        "alleleId": 480537,
        "preferredName": "NM_002180.3(IGHMBP2):c.688C>G (p.Gln230Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/487481",
        "RCV": [
          "RCV000677234"
        ],
        "variationId": 487481
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68679048C>G?assembly=hg19",
        "id": "chr11:g.68679048C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68911580C>G?assembly=hg38",
        "id": "chr11:g.68911580C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555243325",
        "rs": 1555243325
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68911580-C-G?dataset=gnomad_r4",
        "id": "11-68911580-C-G",
        "variant": "11:68911580 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68911580,
          "referenceAllele": "C",
          "start": 68911579
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68911580C>G",
        "CM000673.2:g.68911580C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68679048,
          "referenceAllele": "C",
          "start": 68679047
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68679048C>G",
        "CM000673.1:g.68679048C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68435624,
          "referenceAllele": "C",
          "start": 68435623
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68435624C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12730,
          "referenceAllele": "C",
          "start": 12729
        }
      ],
      "hgvs": [
        "NG_007976.1:g.12730C>G",
        "LRG_250:g.12730C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Gln230Glu",
        "hgvsWellDefined": "ENSP00000255078.4:p.Gln230Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.688C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.688C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Gln230Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Gln230Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539224.2:c.651C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759589"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674583.1:c.651C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674955.1:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502463.1:p.Gln230Glu",
        "hgvsWellDefined": "ENSP00000502463.1:p.Gln230Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35,
          "referenceAllele": "C",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675118.1:c.35C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675142.1:n.651C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:p.Gln230Glu",
        "hgvsWellDefined": "ENSP00000502413.1:p.Gln230Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675674.1:n.651C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775461"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98,
          "endIntronDirection": "+",
          "endIntronOffset": 2949,
          "referenceAllele": "C",
          "start": 98,
          "startIntronDirection": "+",
          "startIntronOffset": 2948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675683.1:c.98+2949C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675873.1:c.651C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.732C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676228.1:c.*11C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502375.1:n.*11C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Gln230Glu",
        "hgvsWellDefined": "ENSP00000255078.3:p.Gln230Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539224.1:c.*11C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440465.1:n.*11C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827846",
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.688C>G",
        "LRG_250t1:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Gln230Glu",
        "hgvsWellDefined": "NP_002171.2:p.Gln230Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "C",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.-324C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:n.-324C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273976.1:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274033.1:p.Gln230Glu",
        "hgvsWellDefined": "XP_005274033.1:p.Gln230Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_247198.1:n.790C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.790C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273976.2:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274033.1:p.Gln230Glu",
        "hgvsWellDefined": "XP_005274033.1:p.Gln230Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.-324C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:n.-324C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017671.2:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873160.1:p.Gln230Glu",
        "hgvsWellDefined": "XP_016873160.1:p.Gln230Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.786C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827846",
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.688C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Gln230Glu",
        "hgvsWellDefined": "NP_002171.2:p.Gln230Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.688C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.688C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Gln230Glu"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Gln230Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}