{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16602405", "communityStandardTitle": [ "NM_000222.3(KIT):c.1965T>G (p.Asn655Lys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=235682", "active": true, "id": "COSM235682" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362803[alleleid]", "alleleId": 362803, "preferredName": "NM_000222.3(KIT):c.1965T>G (p.Asn655Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375924", "RCV": [ "RCV000428319", "RCV000549644" ], "variationId": 375924 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.55594262T>G?assembly=hg19", "id": "chr4:g.55594262T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.54728096T>G?assembly=hg38", "id": "chr4:g.54728096T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519708", "rs": 1057519708 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 54728096, "referenceAllele": "T", "start": 54728095 } ], "hgvs": [ "NC_000004.12:g.54728096T>G", "CM000666.2:g.54728096T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 55594262, "referenceAllele": "T", "start": 55594261 } ], "hgvs": [ "NC_000004.11:g.55594262T>G", "CM000666.1:g.55594262T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "G", "end": 55289019, "referenceAllele": "T", "start": 55289018 } ], "hgvs": [ "NC_000004.10:g.55289019T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "G", "end": 75102, "referenceAllele": "T", "start": 75101 } ], "hgvs": [ "NG_007456.1:g.75102T>G", "LRG_307:g.75102T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000582" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2048, "referenceAllele": "T", "start": 2047 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.7:c.1956T>G" ], "proteinEffect": { "hgvs": "ENSP00000390987.3:p.Asn652Lys", "hgvsWellDefined": "ENSP00000390987.3:p.Asn652Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824624" }, { "coordinates": [ { "allele": "G", "end": 2043, "referenceAllele": "T", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000685269.1:n.2043T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829977" }, { "coordinates": [ { "allele": "G", "end": 2026, "referenceAllele": "T", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000686011.1:c.1953T>G" ], "proteinEffect": { "hgvs": "ENSP00000509704.1:p.Asn651Lys", "hgvsWellDefined": "ENSP00000509704.1:p.Asn651Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS830351" }, { "coordinates": [ { "allele": "G", "end": 2070, "referenceAllele": "T", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687109.1:c.1968T>G" ], "proteinEffect": { "hgvs": "ENSP00000509371.1:p.Asn656Lys", "hgvsWellDefined": "ENSP00000509371.1:p.Asn656Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS830913" }, { "coordinates": [ { "allele": "G", "end": 2380, "referenceAllele": "T", "start": 2379 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687208.1:n.2380T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830972" }, { "coordinates": [ { "allele": "G", "end": 2021, "referenceAllele": "T", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687246.1:c.1953T>G" ], "proteinEffect": { "hgvs": "ENSP00000509114.1:p.Asn651Lys", "hgvsWellDefined": "ENSP00000509114.1:p.Asn651Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS830998" }, { "coordinates": [ { "allele": "G", "end": 2123, "referenceAllele": "T", "start": 2122 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687265.1:n.2123T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831006" }, { "coordinates": [ { "allele": "G", "end": 2079, "referenceAllele": "T", "start": 2078 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000687295.1:c.1953T>G" ], "proteinEffect": { "hgvs": "ENSP00000509450.1:p.Asn651Lys", "hgvsWellDefined": "ENSP00000509450.1:p.Asn651Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS831020" }, { "coordinates": [ { "allele": "G", "end": 2016, "referenceAllele": "T", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689832.1:c.1968T>G" ], "proteinEffect": { "hgvs": "ENSP00000509084.1:p.Asn656Lys", "hgvsWellDefined": "ENSP00000509084.1:p.Asn656Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS832391" }, { "coordinates": [ { "allele": "G", "end": 1987, "referenceAllele": "T", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000689994.1:c.1455T>G" ], "proteinEffect": { "hgvs": "ENSP00000509156.1:p.Asn485Lys", "hgvsWellDefined": "ENSP00000509156.1:p.Asn485Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS832482" }, { "coordinates": [ { "allele": "G", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690543.1:c.1956T>G" ], "proteinEffect": { "hgvs": "ENSP00000508831.1:p.Asn652Lys", "hgvsWellDefined": "ENSP00000508831.1:p.Asn652Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS832753" }, { "coordinates": [ { "allele": "G", "end": 2183, "referenceAllele": "T", "start": 2182 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000690917.1:n.2183T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832943" }, { "coordinates": [ { "allele": "G", "end": 875, "referenceAllele": "T", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000691361.1:n.875T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS833177" }, { "coordinates": [ { "allele": "G", "end": 2057, "referenceAllele": "T", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692783.1:c.1965T>G" ], "proteinEffect": { "hgvs": "ENSP00000508733.1:p.Asn655Lys", "hgvsWellDefined": "ENSP00000508733.1:p.Asn655Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS833884" }, { "coordinates": [ { "allele": "G", "end": 2062, "referenceAllele": "T", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000692991.1:n.2062T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834006" }, { "coordinates": [ { "allele": "G", "end": 2023, "referenceAllele": "T", "start": 2022 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.6:c.1965T>G" ], "proteinEffect": { "hgvs": "ENSP00000288135.6:p.Asn655Lys", "hgvsWellDefined": "ENSP00000288135.6:p.Asn655Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS743936", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.1965T>G" }, "RefSeq": { "hgvs": "NM_000222.3:c.1965T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Asn655Lys" }, "RefSeq": { "hgvs": "NP_000213.1:p.Asn655Lys" } } } }, { "coordinates": [ { "allele": "G", "end": 2062, "referenceAllele": "T", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000288135.5:c.1965T>G" ], "proteinEffect": { "hgvs": "ENSP00000288135.5:p.Asn655Lys", "hgvsWellDefined": "ENSP00000288135.5:p.Asn655Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS253496" }, { "coordinates": [ { "allele": "G", "end": 2050, "referenceAllele": "T", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "ENST00000412167.6:c.1953T>G" ], "proteinEffect": { "hgvs": "ENSP00000390987.2:p.Asn651Lys", "hgvsWellDefined": "ENSP00000390987.2:p.Asn651Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS282486" }, { "@id": "http://reg.genome.network/allele/PA645488373", "coordinates": [ { "allele": "G", "end": 2052, "referenceAllele": "T", "start": 2051 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.2:c.1965T>G", "LRG_307t1:c.1965T>G" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Asn655Lys", "hgvsWellDefined": "NP_000213.1:p.Asn655Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006286" }, { "@id": "http://reg.genome.network/allele/PA2825523305", "coordinates": [ { "allele": "G", "end": 2040, "referenceAllele": "T", "start": 2039 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.1:c.1953T>G" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Asn651Lys", "hgvsWellDefined": "NP_001087241.1:p.Asn651Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010514" }, { "coordinates": [ { "allele": "G", "end": 2026, "referenceAllele": "T", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265740.1:c.1968T>G" ], "proteinEffect": { "hgvs": "XP_005265797.1:p.Asn656Lys", "hgvsWellDefined": "XP_005265797.1:p.Asn656Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064764" }, { "coordinates": [ { "allele": "G", "end": 2026, "referenceAllele": "T", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265741.1:c.1968T>G" ], "proteinEffect": { "hgvs": "XP_005265798.1:p.Asn656Lys", "hgvsWellDefined": "XP_005265798.1:p.Asn656Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064765" }, { "coordinates": [ { "allele": "G", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.1:c.1956T>G" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Asn652Lys", "hgvsWellDefined": "XP_005265799.1:p.Asn652Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS064766" }, { "coordinates": [ { "allele": "G", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_005265742.3:c.1956T>G" ], "proteinEffect": { "hgvs": "XP_005265799.1:p.Asn652Lys", "hgvsWellDefined": "XP_005265799.1:p.Asn652Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS536112" }, { "coordinates": [ { "allele": "G", "end": 2023, "referenceAllele": "T", "start": 2022 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008178.1:c.1965T>G" ], "proteinEffect": { "hgvs": "XP_016863667.1:p.Asn655Lys", "hgvsWellDefined": "XP_016863667.1:p.Asn655Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS562733" }, { "coordinates": [ { "allele": "G", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008179.1:c.1956T>G" ], "proteinEffect": { "hgvs": "XP_016863668.1:p.Asn652Lys", "hgvsWellDefined": "XP_016863668.1:p.Asn652Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS562734" }, { "coordinates": [ { "allele": "G", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "XM_017008180.1:c.1953T>G" ], "proteinEffect": { "hgvs": "XP_016863669.1:p.Asn651Lys", "hgvsWellDefined": "XP_016863669.1:p.Asn651Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS562735" }, { "@id": "http://reg.genome.network/allele/PA645488373", "coordinates": [ { "allele": "G", "end": 2023, "referenceAllele": "T", "start": 2022 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_000222.3:c.1965T>G" ], "proteinEffect": { "hgvs": "NP_000213.1:p.Asn655Lys", "hgvsWellDefined": "NP_000213.1:p.Asn655Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674751", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000288135.6:c.1965T>G" }, "RefSeq": { "hgvs": "NM_000222.3:c.1965T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000288135.6:p.Asn655Lys" }, "RefSeq": { "hgvs": "NP_000213.1:p.Asn655Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825523305", "coordinates": [ { "allele": "G", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001093772.2:c.1953T>G" ], "proteinEffect": { "hgvs": "NP_001087241.1:p.Asn651Lys", "hgvsWellDefined": "NP_001087241.1:p.Asn651Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711888" }, { "@id": "http://reg.genome.network/allele/PA2828963409", "coordinates": [ { "allele": "G", "end": 2026, "referenceAllele": "T", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385284.1:c.1968T>G" ], "proteinEffect": { "hgvs": "NP_001372213.1:p.Asn656Lys", "hgvsWellDefined": "NP_001372213.1:p.Asn656Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS723620" }, { "@id": "http://reg.genome.network/allele/PA2828966526", "coordinates": [ { "allele": "G", "end": 2023, "referenceAllele": "T", "start": 2022 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385285.1:c.1965T>G" ], "proteinEffect": { "hgvs": "NP_001372214.1:p.Asn655Lys", "hgvsWellDefined": "NP_001372214.1:p.Asn655Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS723621" }, { "@id": "http://reg.genome.network/allele/PA2828970594", "coordinates": [ { "allele": "G", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385286.1:c.1953T>G" ], "proteinEffect": { "hgvs": "NP_001372215.1:p.Asn651Lys", "hgvsWellDefined": "NP_001372215.1:p.Asn651Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS723622" }, { "@id": "http://reg.genome.network/allele/PA2829019942", "coordinates": [ { "allele": "G", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385288.1:c.1956T>G" ], "proteinEffect": { "hgvs": "NP_001372217.1:p.Asn652Lys", "hgvsWellDefined": "NP_001372217.1:p.Asn652Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS723624" }, { "@id": "http://reg.genome.network/allele/PA2573077911", "coordinates": [ { "allele": "G", "end": 2026, "referenceAllele": "T", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385290.1:c.1968T>G" ], "proteinEffect": { "hgvs": "NP_001372219.1:p.Asn656Lys", "hgvsWellDefined": "NP_001372219.1:p.Asn656Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS723626" }, { "@id": "http://reg.genome.network/allele/PA2829022900", "coordinates": [ { "allele": "G", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN006342", "geneNCBI_id": 3815, "geneSymbol": "KIT", "hgvs": [ "NM_001385292.1:c.1956T>G" ], "proteinEffect": { "hgvs": "NP_001372221.1:p.Asn652Lys", "hgvsWellDefined": "NP_001372221.1:p.Asn652Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS723628" } ], "type": "nucleotide" }