{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409651109",
  "communityStandardTitle": [
    "NM_001958.5(EEF1A2):c.324+2T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2990203[alleleid]",
        "alleleId": 2990203,
        "preferredName": "NM_001958.5(EEF1A2):c.324+2T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2828265",
        "RCV": [
          "RCV003754392"
        ],
        "variationId": 2828265
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62127207A>C?assembly=hg19",
        "id": "chr20:g.62127207A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63495854A>C?assembly=hg38",
        "id": "chr20:g.63495854A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113570888",
        "rs": 113570888
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 63495854,
          "referenceAllele": "A",
          "start": 63495853
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63495854A>C",
        "CM000682.2:g.63495854A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 62127207,
          "referenceAllele": "A",
          "start": 62127206
        }
      ],
      "hgvs": [
        "NC_000020.10:g.62127207A>C",
        "CM000682.1:g.62127207A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 61597651,
          "referenceAllele": "A",
          "start": 61597650
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61597651A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8462,
          "referenceAllele": "T",
          "start": 8461
        }
      ],
      "hgvs": [
        "NG_034083.1:g.8462T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005738"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000706948.1:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516668.1:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000706949.1:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516669.1:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000217182.6:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217182.3:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740356",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217182.6:c.324+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001958.5:c.324+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217182.3:n.324+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001949.1:n.324+2T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000298049.12:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298049.8:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 515,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000642899.1:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493767.1:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 484,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000645357.1:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494971.1:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2893,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2893,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000645586.1:n.2893+2T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 629,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 629,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000675519.1:c.*196+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501859.1:n.*196+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 653,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000217182.4:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217182.3:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 395,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "ENST00000298049.11:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298049.7:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 653,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "NM_001958.3:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001949.1:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "NM_001958.4:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001949.1:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003192",
      "geneNCBI_id": 1917,
      "geneSymbol": "EEF1A2",
      "hgvs": [
        "NM_001958.5:c.324+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001949.1:n.324+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217182.6:c.324+2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001958.5:c.324+2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217182.3:n.324+2T>G"
          },
          "RefSeq": {
            "hgvs": "NP_001949.1:n.324+2T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}