{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16602662", "communityStandardTitle": [ "NM_005228.5(EGFR):c.323G>A (p.Arg108Lys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=21683", "active": true, "id": "COSM21683" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1559806", "active": true, "id": "COSM1559806" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4970170", "active": true, "id": "COSM4970170" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5576118", "active": true, "id": "COSM5576118" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363086[alleleid]", "alleleId": 363086, "preferredName": "NM_005228.5(EGFR):c.323G>A (p.Arg108Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376207", "RCV": [ "RCV000432019" ], "variationId": 376207 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.55211080G>A?assembly=hg19", "id": "chr7:g.55211080G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.55143387G>A?assembly=hg38", "id": "chr7:g.55143387G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519828", "rs": 1057519828 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 55143387, "referenceAllele": "G", "start": 55143386 } ], "hgvs": [ "NC_000007.14:g.55143387G>A", "CM000669.2:g.55143387G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 55211080, "referenceAllele": "G", "start": 55211079 } ], "hgvs": [ "NC_000007.13:g.55211080G>A", "CM000669.1:g.55211080G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 55178574, "referenceAllele": "G", "start": 55178573 } ], "hgvs": [ "NC_000007.12:g.55178574G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 129356, "referenceAllele": "G", "start": 129355 } ], "hgvs": [ "NG_007726.3:g.129356G>A", "LRG_304:g.129356G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000672" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "G", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000450046.2:c.164G>A" ], "proteinEffect": { "hgvs": "ENSP00000413354.2:p.Arg55Lys", "hgvsWellDefined": "ENSP00000413354.2:p.Arg55Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS904989" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000700144.1:n.513G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910994" }, { "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000344576.7:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000345973.2:p.Arg108Lys", "hgvsWellDefined": "ENSP00000345973.2:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824038" }, { "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000275493.7:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000275493.2:p.Arg108Lys", "hgvsWellDefined": "ENSP00000275493.2:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS743395", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275493.7:c.323G>A" }, "RefSeq": { "hgvs": "NM_005228.5:c.323G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275493.2:p.Arg108Lys" }, "RefSeq": { "hgvs": "NP_005219.2:p.Arg108Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 500, "referenceAllele": "G", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000275493.6:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000275493.2:p.Arg108Lys", "hgvsWellDefined": "ENSP00000275493.2:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS252621" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000342916.7:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000342376.3:p.Arg108Lys", "hgvsWellDefined": "ENSP00000342376.3:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS261653" }, { "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000344576.6:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000345973.2:p.Arg108Lys", "hgvsWellDefined": "ENSP00000345973.2:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS262001" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "G", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000420316.6:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000413843.2:p.Arg108Lys", "hgvsWellDefined": "ENSP00000413843.2:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS286263" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000442591.5:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000410031.1:p.Arg108Lys", "hgvsWellDefined": "ENSP00000410031.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS296950" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "G", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000450046.1:c.164G>A" ], "proteinEffect": { "hgvs": "ENSP00000413354.1:p.Arg55Lys", "hgvsWellDefined": "ENSP00000413354.1:p.Arg55Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS300517" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000454757.6:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000395243.3:p.Arg108Lys", "hgvsWellDefined": "ENSP00000395243.3:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS302708" }, { "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "G", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000455089.5:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000415559.1:p.Arg108Lys", "hgvsWellDefined": "ENSP00000415559.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS302870" }, { "@id": "http://reg.genome.network/allele/PA645473421", "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.3:c.323G>A", "LRG_304t1:c.323G>A" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Arg108Lys", "hgvsWellDefined": "NP_005219.2:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS030340" }, { "@id": "http://reg.genome.network/allele/PA2830470629", "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_201282.1:c.323G>A" ], "proteinEffect": { "hgvs": "NP_958439.1:p.Arg108Lys", "hgvsWellDefined": "NP_958439.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS044991" }, { "@id": "http://reg.genome.network/allele/PA2830472426", "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_201283.1:c.323G>A" ], "proteinEffect": { "hgvs": "NP_958440.1:p.Arg108Lys", "hgvsWellDefined": "NP_958440.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS044992" }, { "@id": "http://reg.genome.network/allele/PA2830473441", "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_201284.1:c.323G>A" ], "proteinEffect": { "hgvs": "NP_958441.1:p.Arg108Lys", "hgvsWellDefined": "NP_958441.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS044993" }, { "@id": "http://reg.genome.network/allele/PA2827387058", "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "G", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346897.1:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001333826.1:p.Arg108Lys", "hgvsWellDefined": "NP_001333826.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS517697" }, { "@id": "http://reg.genome.network/allele/PA2827388802", "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "G", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346898.1:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001333827.1:p.Arg108Lys", "hgvsWellDefined": "NP_001333827.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS517698" }, { "@id": "http://reg.genome.network/allele/PA2827390620", "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "G", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346899.1:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001333828.1:p.Arg108Lys", "hgvsWellDefined": "NP_001333828.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS517699" }, { "@id": "http://reg.genome.network/allele/PA916029084", "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346900.1:c.164G>A" ], "proteinEffect": { "hgvs": "NP_001333829.1:p.Arg55Lys", "hgvsWellDefined": "NP_001333829.1:p.Arg55Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS517700" }, { "coordinates": [ { "allele": "A", "end": 345, "endIntronDirection": "-", "endIntronOffset": 12442, "referenceAllele": "G", "start": 345, "startIntronDirection": "-", "startIntronOffset": 12443 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346941.1:c.89-12443G>A" ], "proteinEffect": { "hgvs": "NP_001333870.1:n.89-12443G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS517714" }, { "@id": "http://reg.genome.network/allele/PA645473421", "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "G", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.4:c.323G>A" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Arg108Lys", "hgvsWellDefined": "NP_005219.2:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS525294" }, { "@id": "http://reg.genome.network/allele/PA645473421", "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.5:c.323G>A" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Arg108Lys", "hgvsWellDefined": "NP_005219.2:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS666873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275493.7:c.323G>A" }, "RefSeq": { "hgvs": "NM_005228.5:c.323G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275493.2:p.Arg108Lys" }, "RefSeq": { "hgvs": "NP_005219.2:p.Arg108Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2827387058", "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346897.2:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001333826.1:p.Arg108Lys", "hgvsWellDefined": "NP_001333826.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS687442" }, { "@id": "http://reg.genome.network/allele/PA2827388802", "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346898.2:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001333827.1:p.Arg108Lys", "hgvsWellDefined": "NP_001333827.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS687443" }, { "@id": "http://reg.genome.network/allele/PA916029084", "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346900.2:c.164G>A" ], "proteinEffect": { "hgvs": "NP_001333829.1:p.Arg55Lys", "hgvsWellDefined": "NP_001333829.1:p.Arg55Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS687444" }, { "coordinates": [ { "allele": "A", "end": 349, "endIntronDirection": "-", "endIntronOffset": 12442, "referenceAllele": "G", "start": 349, "startIntronDirection": "-", "startIntronOffset": 12443 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346941.2:c.89-12443G>A" ], "proteinEffect": { "hgvs": "NP_001333870.1:n.89-12443G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS687456" }, { "@id": "http://reg.genome.network/allele/PA2830470629", "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_201282.2:c.323G>A" ], "proteinEffect": { "hgvs": "NP_958439.1:p.Arg108Lys", "hgvsWellDefined": "NP_958439.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS701527" }, { "@id": "http://reg.genome.network/allele/PA2830473441", "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_201284.2:c.323G>A" ], "proteinEffect": { "hgvs": "NP_958441.1:p.Arg108Lys", "hgvsWellDefined": "NP_958441.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS701528" }, { "@id": "http://reg.genome.network/allele/PA2827390620", "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346899.2:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001333828.1:p.Arg108Lys", "hgvsWellDefined": "NP_001333828.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS719000" }, { "@id": "http://reg.genome.network/allele/PA2830472426", "coordinates": [ { "allele": "A", "end": 584, "referenceAllele": "G", "start": 583 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_201283.2:c.323G>A" ], "proteinEffect": { "hgvs": "NP_958440.1:p.Arg108Lys", "hgvsWellDefined": "NP_958440.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS730003" } ], "type": "nucleotide" }