{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043098",
  "communityStandardTitle": [
    "NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360413[alleleid]",
        "alleleId": 360413,
        "preferredName": "NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372911",
        "RCV": [
          "RCV000413937",
          "RCV001782889"
        ],
        "variationId": 372911
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.9916151A>C?assembly=hg19",
        "id": "chr16:g.9916151A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.9822294A>C?assembly=hg38",
        "id": "chr16:g.9822294A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518070",
        "rs": 1057518070
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9822294,
          "referenceAllele": "A",
          "start": 9822293
        }
      ],
      "hgvs": [
        "NC_000016.10:g.9822294A>C",
        "CM000678.2:g.9822294A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9916151,
          "referenceAllele": "A",
          "start": 9916150
        }
      ],
      "hgvs": [
        "NC_000016.9:g.9916151A>C",
        "CM000678.1:g.9916151A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9823652,
          "referenceAllele": "A",
          "start": 9823651
        }
      ],
      "hgvs": [
        "NC_000016.8:g.9823652A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365461,
          "referenceAllele": "T",
          "start": 365460
        }
      ],
      "hgvs": [
        "NG_011812.1:g.365461T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365461,
          "referenceAllele": "T",
          "start": 365460
        }
      ],
      "hgvs": [
        "NG_011812.2:g.365461T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673563"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2708,
          "referenceAllele": "T",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.4:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.Val713Gly",
        "hgvsWellDefined": "ENSP00000332549.3:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.2138T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.2138T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.Val713Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.Val713Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1808,
          "referenceAllele": "T",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.6:c.1667T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.3:p.Val556Gly",
        "hgvsWellDefined": "ENSP00000441572.3:p.Val556Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "T",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000636273.2:n.1731T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1973,
          "referenceAllele": "T",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000674742.1:c.1667T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502200.1:p.Val556Gly",
        "hgvsWellDefined": "ENSP00000502200.1:p.Val556Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2591,
          "referenceAllele": "T",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000675398.1:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502752.1:p.Val713Gly",
        "hgvsWellDefined": "ENSP00000502752.1:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "referenceAllele": "T",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.3:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.Val713Gly",
        "hgvsWellDefined": "ENSP00000332549.3:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2448,
          "referenceAllele": "T",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396573.6:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379818.2:p.Val713Gly",
        "hgvsWellDefined": "ENSP00000379818.2:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1727,
          "referenceAllele": "T",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396575.6:c.1727T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379820.3:p.Val576Gly",
        "hgvsWellDefined": "ENSP00000379820.3:p.Val576Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1777,
          "referenceAllele": "T",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000461292.3:n.1777T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "T",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.5:c.1727T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.2:p.Val576Gly",
        "hgvsWellDefined": "ENSP00000441572.2:p.Val576Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2167,
          "referenceAllele": "T",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000562109.5:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454998.1:p.Val713Gly",
        "hgvsWellDefined": "ENSP00000454998.1:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645403870",
      "coordinates": [
        {
          "allele": "G",
          "end": 2448,
          "referenceAllele": "T",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.4:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.Val713Gly",
        "hgvsWellDefined": "NP_000824.1:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825778840",
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "referenceAllele": "T",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.2:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.Val713Gly",
        "hgvsWellDefined": "NP_001127879.1:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975998",
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "referenceAllele": "T",
          "start": 2346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134408.2:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127880.1:p.Val713Gly",
        "hgvsWellDefined": "NP_001127880.1:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1994,
          "referenceAllele": "T",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522456.1:c.1979T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520758.1:p.Val660Gly",
        "hgvsWellDefined": "XP_011520758.1:p.Val660Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1890,
          "referenceAllele": "T",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522457.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520759.1:p.Val627Gly",
        "hgvsWellDefined": "XP_011520759.1:p.Val627Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1948,
          "referenceAllele": "T",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.1:c.1667T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:p.Val556Gly",
        "hgvsWellDefined": "XP_011520760.1:p.Val556Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "T",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522459.1:c.1667T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520761.1:p.Val556Gly",
        "hgvsWellDefined": "XP_011520761.1:p.Val556Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2088,
          "referenceAllele": "T",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522460.1:c.1667T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520762.1:p.Val556Gly",
        "hgvsWellDefined": "XP_011520762.1:p.Val556Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3058,
          "referenceAllele": "T",
          "start": 3057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.1:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.Val713Gly",
        "hgvsWellDefined": "XP_011520763.1:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1932,
          "referenceAllele": "T",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.3:c.1667T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:p.Val556Gly",
        "hgvsWellDefined": "XP_011520760.1:p.Val556Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2622,
          "referenceAllele": "T",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.3:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.Val713Gly",
        "hgvsWellDefined": "XP_011520763.1:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2559,
          "referenceAllele": "T",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023172.1:c.2294T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878661.1:p.Val765Gly",
        "hgvsWellDefined": "XP_016878661.1:p.Val765Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2559,
          "referenceAllele": "T",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023173.1:c.2294T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878662.1:p.Val765Gly",
        "hgvsWellDefined": "XP_016878662.1:p.Val765Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825778840",
      "coordinates": [
        {
          "allele": "G",
          "end": 2708,
          "referenceAllele": "T",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.3:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.Val713Gly",
        "hgvsWellDefined": "NP_001127879.1:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.2138T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.2138T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.Val713Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.Val713Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645403870",
      "coordinates": [
        {
          "allele": "G",
          "end": 2602,
          "referenceAllele": "T",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.5:c.2138T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.Val713Gly",
        "hgvsWellDefined": "NP_000824.1:p.Val713Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674962"
    }
  ],
  "type": "nucleotide"
}