{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6153868",
  "communityStandardTitle": [
    "NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=433633[alleleid]",
        "alleleId": 433633,
        "preferredName": "NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/439816",
        "RCV": [
          "RCV000505881",
          "RCV000705696",
          "RCV002446986"
        ],
        "variationId": 439816
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-68704208-G-A",
        "id": "11-68704208-G-A",
        "variant": "11:68704208 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68704208G>A?assembly=hg19",
        "id": "chr11:g.68704208G>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68704208_68704223delinsAACAGGCTGCGGGTCC?assembly=hg19",
        "id": "chr11:g.68704208_68704223delinsAACAGGCTGCGGGTCC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68936740G>A?assembly=hg38",
        "id": "chr11:g.68936740G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200499838",
        "rs": 200499838
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68704208-G-A?dataset=gnomad_r2_1",
        "id": "11-68704208-G-A",
        "variant": "11:68704208 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68936740-G-A?dataset=gnomad_r3",
        "id": "11-68936740-G-A",
        "variant": "11:68936740 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68936740-G-A?dataset=gnomad_r4",
        "id": "11-68936740-G-A",
        "variant": "11:68936740 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68936740,
          "referenceAllele": "G",
          "start": 68936739
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68936740G>A",
        "CM000673.2:g.68936740G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68704208,
          "referenceAllele": "G",
          "start": 68704207
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68704208G>A",
        "CM000673.1:g.68704208G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 68460784,
          "referenceAllele": "G",
          "start": 68460783
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68460784G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37890,
          "referenceAllele": "G",
          "start": 37889
        }
      ],
      "hgvs": [
        "NG_007976.1:g.37890G>A",
        "LRG_250:g.37890G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2322,
          "referenceAllele": "G",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.8:c.2260G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.4:p.Asp754Asn",
        "hgvsWellDefined": "ENSP00000255078.4:p.Asp754Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.2260G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.2260G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Asp754Asn"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Asp754Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "referenceAllele": "G",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674675.1:c.504G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "referenceAllele": "G",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674878.1:c.504G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2392,
          "referenceAllele": "G",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000674955.1:c.*977G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502463.1:n.*977G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675118.1:c.1748G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675389.1:n.535G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2350,
          "referenceAllele": "G",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675615.1:c.2260G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502413.1:p.Asp754Asn",
        "hgvsWellDefined": "ENSP00000502413.1:p.Asp754Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675648.1:n.1635G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "referenceAllele": "G",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000675916.1:c.504G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3005,
          "referenceAllele": "G",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676173.1:n.3005G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "referenceAllele": "G",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676182.1:c.691G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2252,
          "referenceAllele": "G",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000676228.1:c.*1583G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502375.1:n.*1583G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2371,
          "referenceAllele": "G",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000255078.7:c.2260G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255078.3:p.Asp754Asn",
        "hgvsWellDefined": "ENSP00000255078.3:p.Asp754Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "referenceAllele": "G",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000539064.5:n.2019G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1253,
          "referenceAllele": "G",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "ENST00000543739.5:n.1253G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510568",
      "coordinates": [
        {
          "allele": "A",
          "end": 2362,
          "referenceAllele": "G",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.2:c.2260G>A",
        "LRG_250t1:c.2260G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Asp754Asn",
        "hgvsWellDefined": "NP_002171.2:p.Asp754Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2326,
          "referenceAllele": "G",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273974.2:c.1249G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274031.1:p.Asp417Asn",
        "hgvsWellDefined": "XP_005274031.1:p.Asp417Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.2:c.1132G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Asp378Asn",
        "hgvsWellDefined": "XP_005274032.1:p.Asp378Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_011544994.1:c.1027G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543296.1:p.Asp343Asn",
        "hgvsWellDefined": "XP_011543296.1:p.Asp343Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2362,
          "referenceAllele": "G",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.1:n.2362G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1457,
          "referenceAllele": "G",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_005273975.3:c.1132G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274032.1:p.Asp378Asn",
        "hgvsWellDefined": "XP_005274032.1:p.Asp378Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "referenceAllele": "G",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017669.2:c.1249G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873158.1:p.Asp417Asn",
        "hgvsWellDefined": "XP_016873158.1:p.Asp417Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3081,
          "referenceAllele": "G",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XM_017017670.2:c.1249G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873159.1:p.Asp417Asn",
        "hgvsWellDefined": "XP_016873159.1:p.Asp417Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2358,
          "referenceAllele": "G",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "XR_949903.3:n.2358G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510568",
      "coordinates": [
        {
          "allele": "A",
          "end": 2322,
          "referenceAllele": "G",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NM_002180.3:c.2260G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002171.2:p.Asp754Asn",
        "hgvsWellDefined": "NP_002171.2:p.Asp754Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000255078.8:c.2260G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002180.3:c.2260G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000255078.4:p.Asp754Asn"
          },
          "RefSeq": {
            "hgvs": "NP_002171.2:p.Asp754Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}