{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6153979",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=868719[alleleid]",
        "alleleId": 868719,
        "preferredName": "NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/882654",
        "RCV": [
          "RCV001112495",
          "RCV001441798"
        ],
        "variationId": 882654
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-68705705-C-T",
        "id": "11-68705705-C-T",
        "variant": "11:68705705 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68705705C>T?assembly=hg19",
        "id": "chr11:g.68705705C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68938237C>T?assembly=hg38",
        "id": "chr11:g.68938237C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770556515",
        "rs": 770556515
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68705705-C-T?dataset=gnomad_r2_1",
        "id": "11-68705705-C-T",
        "variant": "11:68705705 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68938237-C-T?dataset=gnomad_r3",
        "id": "11-68938237-C-T",
        "variant": "11:68938237 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68938237-C-T?dataset=gnomad_r4",
        "id": "11-68938237-C-T",
        "variant": "11:68938237 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68938237,
          "referenceAllele": "C",
          "start": 68938236
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68938237C>T",
        "CM000673.2:g.68938237C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68705705,
          "referenceAllele": "C",
          "start": 68705704
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68705705C>T",
        "CM000673.1:g.68705705C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68462281,
          "referenceAllele": "C",
          "start": 68462280
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68462281C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39387,
          "referenceAllele": "C",
          "start": 39386
        }
      ],
      "hgvs": [
        "NG_007976.1:g.39387C>T",
        "LRG_250:g.39387C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2729,
          "referenceAllele": "C",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.2667C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Ala889="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.2667C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.2667C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Ala889="
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Ala889="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674675.1:c.812C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674878.1:c.772C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2155,
          "referenceAllele": "C",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675118.1:c.2155C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2701,
          "endIntronDirection": "+",
          "endIntronOffset": 1146,
          "referenceAllele": "C",
          "start": 2701,
          "startIntronDirection": "+",
          "startIntronOffset": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.2611+1146C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:n.2611+1146C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675648.1:n.2042C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675916.1:c.911C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3412,
          "referenceAllele": "C",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.3412C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2778,
          "referenceAllele": "C",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.2667C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Ala889="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000543739.5:n.1660C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000544521.1:n.498C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829362289",
      "coordinates": [
        {
          "allele": "T",
          "end": 2769,
          "referenceAllele": "C",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.2667C>T",
        "LRG_250t1:c.2667C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Ala889="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2733,
          "referenceAllele": "C",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.1656C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.2:c.1539C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Ala513="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2251,
          "referenceAllele": "C",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_011544994.1:c.1434C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543296.1:p.Ala478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2769,
          "referenceAllele": "C",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.2769C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1864,
          "referenceAllele": "C",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.3:c.1539C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Ala513="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2615,
          "referenceAllele": "C",
          "start": 2614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.1656C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3488,
          "referenceAllele": "C",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017670.2:c.1656C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873159.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2765,
          "referenceAllele": "C",
          "start": 2764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.2765C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829362289",
      "coordinates": [
        {
          "allele": "T",
          "end": 2729,
          "referenceAllele": "C",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.2667C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Ala889="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.2667C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.2667C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Ala889="
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Ala889="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}