{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16602726", "communityStandardTitle": [ "NM_005228.5(EGFR):c.2428G>A (p.Gly810Ser)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=13192", "active": true, "id": "COSM13192" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363157[alleleid]", "alleleId": 363157, "preferredName": "NM_005228.5(EGFR):c.2428G>A (p.Gly810Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376278", "RCV": [ "RCV000444211" ], "variationId": 376278 }, { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4639274", "RCV": [ "RCV006383853" ], "variationId": 4639274 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.55249130G>A?assembly=hg19", "id": "chr7:g.55249130G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.55181437G>A?assembly=hg38", "id": "chr7:g.55181437G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121913230", "rs": 121913230 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 55181437, "referenceAllele": "G", "start": 55181436 } ], "hgvs": [ "NC_000007.14:g.55181437G>A", "CM000669.2:g.55181437G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 55249130, "referenceAllele": "G", "start": 55249129 } ], "hgvs": [ "NC_000007.13:g.55249130G>A", "CM000669.1:g.55249130G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 55216624, "referenceAllele": "G", "start": 55216623 } ], "hgvs": [ "NC_000007.12:g.55216624G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 167406, "referenceAllele": "G", "start": 167405 } ], "hgvs": [ "NG_007726.3:g.167406G>A", "LRG_304:g.167406G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000672" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2576, "referenceAllele": "G", "start": 2575 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000450046.2:c.2269G>A" ], "proteinEffect": { "hgvs": "ENSP00000413354.2:p.Gly757Ser", "hgvsWellDefined": "ENSP00000413354.2:p.Gly757Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS904989" }, { "coordinates": [ { "allele": "A", "end": 777, "referenceAllele": "G", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000700145.1:c.777G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910995" }, { "coordinates": [ { "allele": "A", "end": 2689, "referenceAllele": "G", "start": 2688 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000275493.7:c.2428G>A" ], "proteinEffect": { "hgvs": "ENSP00000275493.2:p.Gly810Ser", "hgvsWellDefined": "ENSP00000275493.2:p.Gly810Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS743395", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275493.7:c.2428G>A" }, "RefSeq": { "hgvs": "NM_005228.5:c.2428G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275493.2:p.Gly810Ser" }, "RefSeq": { "hgvs": "NP_005219.2:p.Gly810Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 2605, "referenceAllele": "G", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000275493.6:c.2428G>A" ], "proteinEffect": { "hgvs": "ENSP00000275493.2:p.Gly810Ser", "hgvsWellDefined": "ENSP00000275493.2:p.Gly810Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS252621" }, { "coordinates": [ { "allele": "A", "end": 2162, "endIntronDirection": "+", "endIntronOffset": 8509, "referenceAllele": "G", "start": 2162, "startIntronDirection": "+", "startIntronOffset": 8508 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000442591.5:c.*28+8509G>A" ], "proteinEffect": { "hgvs": "ENSP00000410031.1:n.*28+8509G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS296950" }, { "coordinates": [ { "allele": "A", "end": 2539, "referenceAllele": "G", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000454757.6:c.2293G>A" ], "proteinEffect": { "hgvs": "ENSP00000395243.3:p.Gly765Ser", "hgvsWellDefined": "ENSP00000395243.3:p.Gly765Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS302708" }, { "coordinates": [ { "allele": "A", "end": 2550, "referenceAllele": "G", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000455089.5:c.2293G>A" ], "proteinEffect": { "hgvs": "ENSP00000415559.1:p.Gly765Ser", "hgvsWellDefined": "ENSP00000415559.1:p.Gly765Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS302870" }, { "@id": "http://reg.genome.network/allele/PA645473754", "coordinates": [ { "allele": "A", "end": 2674, "referenceAllele": "G", "start": 2673 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.3:c.2428G>A", "LRG_304t1:c.2428G>A" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Gly810Ser", "hgvsWellDefined": "NP_005219.2:p.Gly810Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS030340" }, { "coordinates": [ { "allele": "T", "end": 1134, "referenceAllele": "C", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN040207", "geneNCBI_id": 100507500, "geneSymbol": "EGFR-AS1", "hgvs": [ "NR_047551.1:n.1134C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS051997" }, { "@id": "http://reg.genome.network/allele/PA2827388167", "coordinates": [ { "allele": "A", "end": 2550, "referenceAllele": "G", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346897.1:c.2293G>A" ], "proteinEffect": { "hgvs": "NP_001333826.1:p.Gly765Ser", "hgvsWellDefined": "NP_001333826.1:p.Gly765Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS517697" }, { "@id": "http://reg.genome.network/allele/PA2827389990", "coordinates": [ { "allele": "A", "end": 2685, "referenceAllele": "G", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346898.1:c.2428G>A" ], "proteinEffect": { "hgvs": "NP_001333827.1:p.Gly810Ser", "hgvsWellDefined": "NP_001333827.1:p.Gly810Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS517698" }, { "@id": "http://reg.genome.network/allele/PA2827391727", "coordinates": [ { "allele": "A", "end": 2550, "referenceAllele": "G", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346899.1:c.2293G>A" ], "proteinEffect": { "hgvs": "NP_001333828.1:p.Gly765Ser", "hgvsWellDefined": "NP_001333828.1:p.Gly765Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS517699" }, { "@id": "http://reg.genome.network/allele/PA2827393503", "coordinates": [ { "allele": "A", "end": 2482, "referenceAllele": "G", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346900.1:c.2269G>A" ], "proteinEffect": { "hgvs": "NP_001333829.1:p.Gly757Ser", "hgvsWellDefined": "NP_001333829.1:p.Gly757Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS517700" }, { "@id": "http://reg.genome.network/allele/PA2827395365", "coordinates": [ { "allele": "A", "end": 1884, "referenceAllele": "G", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346941.1:c.1627G>A" ], "proteinEffect": { "hgvs": "NP_001333870.1:p.Gly543Ser", "hgvsWellDefined": "NP_001333870.1:p.Gly543Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS517714" }, { "@id": "http://reg.genome.network/allele/PA645473754", "coordinates": [ { "allele": "A", "end": 2685, "referenceAllele": "G", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.4:c.2428G>A" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Gly810Ser", "hgvsWellDefined": "NP_005219.2:p.Gly810Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS525294" }, { "@id": "http://reg.genome.network/allele/PA645473754", "coordinates": [ { "allele": "A", "end": 2689, "referenceAllele": "G", "start": 2688 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.5:c.2428G>A" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Gly810Ser", "hgvsWellDefined": "NP_005219.2:p.Gly810Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS666873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275493.7:c.2428G>A" }, "RefSeq": { "hgvs": "NM_005228.5:c.2428G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275493.2:p.Gly810Ser" }, "RefSeq": { "hgvs": "NP_005219.2:p.Gly810Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2827388167", "coordinates": [ { "allele": "A", "end": 2554, "referenceAllele": "G", "start": 2553 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346897.2:c.2293G>A" ], "proteinEffect": { "hgvs": "NP_001333826.1:p.Gly765Ser", "hgvsWellDefined": "NP_001333826.1:p.Gly765Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS687442" }, { "@id": "http://reg.genome.network/allele/PA2827389990", "coordinates": [ { "allele": "A", "end": 2689, "referenceAllele": "G", "start": 2688 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346898.2:c.2428G>A" ], "proteinEffect": { "hgvs": "NP_001333827.1:p.Gly810Ser", "hgvsWellDefined": "NP_001333827.1:p.Gly810Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS687443" }, { "@id": "http://reg.genome.network/allele/PA2827393503", "coordinates": [ { "allele": "A", "end": 2460, "referenceAllele": "G", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346900.2:c.2269G>A" ], "proteinEffect": { "hgvs": "NP_001333829.1:p.Gly757Ser", "hgvsWellDefined": "NP_001333829.1:p.Gly757Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS687444" }, { "@id": "http://reg.genome.network/allele/PA2827395365", "coordinates": [ { "allele": "A", "end": 1888, "referenceAllele": "G", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346941.2:c.1627G>A" ], "proteinEffect": { "hgvs": "NP_001333870.1:p.Gly543Ser", "hgvsWellDefined": "NP_001333870.1:p.Gly543Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS687456" }, { "@id": "http://reg.genome.network/allele/PA2827391727", "coordinates": [ { "allele": "A", "end": 2554, "referenceAllele": "G", "start": 2553 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346899.2:c.2293G>A" ], "proteinEffect": { "hgvs": "NP_001333828.1:p.Gly765Ser", "hgvsWellDefined": "NP_001333828.1:p.Gly765Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS719000" } ], "type": "nucleotide" }