{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2394979",
  "communityStandardTitle": [
    "NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=295428[alleleid]",
        "alleleId": 295428,
        "preferredName": "NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/346012",
        "RCV": [
          "RCV000305973",
          "RCV000360815",
          "RCV000649516",
          "RCV003480613"
        ],
        "variationId": 346012
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-49169835-C-T",
        "id": "3-49169835-C-T",
        "variant": "3:49169835 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49169835C>T?assembly=hg19",
        "id": "chr3:g.49169835C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49132402C>T?assembly=hg38",
        "id": "chr3:g.49132402C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140371771",
        "rs": 140371771
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-49169835-C-T?dataset=gnomad_r2_1",
        "id": "3-49169835-C-T",
        "variant": "3:49169835 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-49132402-C-T?dataset=gnomad_r3",
        "id": "3-49132402-C-T",
        "variant": "3:49132402 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-49132402-C-T?dataset=gnomad_r4",
        "id": "3-49132402-C-T",
        "variant": "3:49132402 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 49132402,
          "referenceAllele": "C",
          "start": 49132401
        }
      ],
      "hgvs": [
        "NC_000003.12:g.49132402C>T",
        "CM000665.2:g.49132402C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 49169835,
          "referenceAllele": "C",
          "start": 49169834
        }
      ],
      "hgvs": [
        "NC_000003.11:g.49169835C>T",
        "CM000665.1:g.49169835C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 49144839,
          "referenceAllele": "C",
          "start": 49144838
        }
      ],
      "hgvs": [
        "NC_000003.10:g.49144839C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5765,
          "referenceAllele": "G",
          "start": 5764
        }
      ],
      "hgvs": [
        "NG_008094.1:g.5765G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000305544.9:c.253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307156.4:p.Glu85Lys",
        "hgvsWellDefined": "ENSP00000307156.4:p.Glu85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.253G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.253G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:p.Glu85Lys"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:p.Glu85Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "G",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000305544.8:c.253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307156.4:p.Glu85Lys",
        "hgvsWellDefined": "ENSP00000307156.4:p.Glu85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000418109.5:c.253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388325.1:p.Glu85Lys",
        "hgvsWellDefined": "ENSP00000388325.1:p.Glu85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "endIntronDirection": "-",
          "endIntronOffset": 247,
          "referenceAllele": "G",
          "start": 102,
          "startIntronDirection": "-",
          "startIntronOffset": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000494831.1:c.-27-248G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444751.1:n.-27-248G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485352",
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.3:c.253G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:p.Glu85Lys",
        "hgvsWellDefined": "NP_002283.3:p.Glu85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.3:c.253G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:p.Glu85Lys",
        "hgvsWellDefined": "XP_005265184.1:p.Glu85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.4:c.253G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:p.Glu85Lys",
        "hgvsWellDefined": "XP_005265184.1:p.Glu85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485352",
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.4:c.253G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:p.Glu85Lys",
        "hgvsWellDefined": "NP_002283.3:p.Glu85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.253G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.253G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:p.Glu85Lys"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:p.Glu85Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}