{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376544428", "communityStandardTitle": [ "NM_020975.6(RET):c.664G>T (p.Glu222Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2799140[alleleid]", "alleleId": 2799140, "preferredName": "NM_020975.6(RET):c.664G>T (p.Glu222Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2633813", "RCV": [ "RCV004531651" ], "variationId": 2633813 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43600438G>T?assembly=hg19", "id": "chr10:g.43600438G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.43104990G>T?assembly=hg38", "id": "chr10:g.43104990G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1837729713", "rs": 1837729713 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-43104990-G-T?dataset=gnomad_r4", "id": "10-43104990-G-T", "variant": "10:43104990 G / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 43104990, "referenceAllele": "G", "start": 43104989 } ], "hgvs": [ "NC_000010.11:g.43104990G>T", "CM000672.2:g.43104990G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 43600438, "referenceAllele": "G", "start": 43600437 } ], "hgvs": [ "NC_000010.10:g.43600438G>T", "CM000672.1:g.43600438G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 42920444, "referenceAllele": "G", "start": 42920443 } ], "hgvs": [ "NC_000010.9:g.42920444G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 32922, "referenceAllele": "G", "start": 32921 } ], "hgvs": [ "NG_007489.1:g.32922G>T", "LRG_518:g.32922G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000611" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.5:c.664G>T" ], "proteinEffect": { "hgvs": "ENSP00000480088.2:p.Glu222Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS826472" }, { "coordinates": [ { "allele": "T", "end": 238, "referenceAllele": "G", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000683007.1:n.238G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827994" }, { "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.6:c.664G>T" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Glu222Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747868" }, { "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.8:c.664G>T" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Glu222Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748710", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.664G>T" }, "RefSeq": { "hgvs": "NM_020975.6:c.664G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Glu222Ter" }, "RefSeq": { "hgvs": "NP_066124.1:p.Glu222Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 820, "endIntronDirection": "+", "endIntronOffset": 2361, "referenceAllele": "G", "start": 820, "startIntronDirection": "+", "startIntronOffset": 2360 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000671844.1:c.625+2361G>T" ], "proteinEffect": { "hgvs": "ENSP00000500541.1:n.625+2361G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773184" }, { "coordinates": [ { "allele": "T", "end": 263, "endIntronDirection": "-", "endIntronOffset": 6216, "referenceAllele": "G", "start": 263, "startIntronDirection": "-", "startIntronOffset": 6217 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000672389.1:c.74-6217G>T" ], "proteinEffect": { "hgvs": "ENSP00000500252.1:n.74-6217G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773367" }, { "coordinates": [ { "allele": "T", "end": 844, "referenceAllele": "G", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000340058.5:c.664G>T" ], "proteinEffect": { "hgvs": "ENSP00000344798.4:p.Glu222Ter", "hgvsWellDefined": "ENSP00000344798.4:p.Glu222_Phe1072delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247408" }, { "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "G", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000355710.7:c.664G>T" ], "proteinEffect": { "hgvs": "ENSP00000347942.3:p.Glu222Ter", "hgvsWellDefined": "ENSP00000347942.3:p.Glu222_Ser1114delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247251" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "G", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000479913.1:n.259G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320185" }, { "coordinates": [ { "allele": "T", "end": 258, "endIntronDirection": "-", "endIntronOffset": 7108, "referenceAllele": "G", "start": 258, "startIntronDirection": "-", "startIntronOffset": 7109 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000498820.5:c.74-7109G>T" ], "proteinEffect": { "hgvs": "ENSP00000419080.1:n.74-7109G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247185" }, { "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "ENST00000615310.4:c.664G>T" ], "proteinEffect": { "hgvs": "ENSP00000480088.1:p.Glu222Ter", "hgvsWellDefined": "ENSP00000480088.1:p.Glu222_Ser458delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysLeuAlaAspLeuThrGlyAspAlaValSerGlyArgAspGluAlaArgSerSerGlyLeuGlySerGlnLysHisProGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402558" }, { "@id": "http://reg.genome.network/allele/PA2829939924", "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.4:c.664G>T", "LRG_518t2:c.664G>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Glu222Ter", "hgvsWellDefined": "NP_065681.1:p.Glu222_Phe1072delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036456" }, { "@id": "http://reg.genome.network/allele/PA2741979947", "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.4:c.664G>T", "LRG_518t1:c.664G>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Glu222Ter", "hgvsWellDefined": "NP_066124.1:p.Glu222_Ser1114delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036733" }, { "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "G", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "XM_011540027.1:c.664G>T" ], "proteinEffect": { "hgvs": "XP_011538329.1:p.Glu222Ter", "hgvsWellDefined": "XP_011538329.1:p.Glu222_Ser1114delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106977" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "G", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_001355216.1:c.-99G>T" ], "proteinEffect": { "hgvs": "NP_001342145.1:n.-99G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522845" }, { "@id": "http://reg.genome.network/allele/PA2829939924", "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "G", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.5:c.664G>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Glu222Ter", "hgvsWellDefined": "NP_065681.1:p.Glu222_Phe1072delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525983" }, { "@id": "http://reg.genome.network/allele/PA2741979947", "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "G", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.5:c.664G>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Glu222Ter", "hgvsWellDefined": "NP_066124.1:p.Glu222_Ser1114delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526025" }, { "@id": "http://reg.genome.network/allele/PA2741979947", "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020975.6:c.664G>T" ], "proteinEffect": { "hgvs": "NP_066124.1:p.Glu222Ter", "hgvsWellDefined": "NP_066124.1:p.Glu222_Ser1114delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670171", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355710.8:c.664G>T" }, "RefSeq": { "hgvs": "NM_020975.6:c.664G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347942.3:p.Glu222Ter" }, "RefSeq": { "hgvs": "NP_066124.1:p.Glu222Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829939924", "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "G", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN009967", "geneNCBI_id": 5979, "geneSymbol": "RET", "hgvs": [ "NM_020630.6:c.664G>T" ], "proteinEffect": { "hgvs": "NP_065681.1:p.Glu222Ter", "hgvsWellDefined": "NP_065681.1:p.Glu222_Phe1072delinsValSerThrArgTrpAlaLeuAspArgGluGlnArgGluLysTyrGluLeuValAlaValCysThrValHisAlaGlyAlaArgGluGluValValMetValProPheProValThrValTyrAspGluAspAspSerAlaProThrPheProAlaGlyValAspThrAlaSerAlaValValGluPheLysArgLysGluAspThrValValAlaThrLeuArgValPheAspAlaAspValValProAlaSerGlyGluLeuValArgArgTyrThrSerThrLeuLeuProGlyAspThrTrpAlaGlnGlnThrPheArgValGluHisTrpProAsnGluThrSerValGlnAlaAsnGlySerPheValArgAlaThrValHisAspTyrArgLeuValLeuAsnArgAsnLeuSerIleSerGluAsnArgThrMetGlnLeuAlaValLeuValAsnAspSerAspPheGlnGlyProGlyAlaGlyValLeuLeuLeuHisPheAsnValSerValLeuProValSerLeuHisLeuProSerThrTyrSerLeuSerValSerArgArgAlaArgArgPheAlaGlnIleGlyLysValCysValGluAsnCysGlnAlaPheSerGlyIleAsnValGlnTyrLysLeuHisSerSerGlyAlaAsnCysSerThrLeuGlyValValThrSerAlaGluAspThrSerGlyIleLeuPheValAsnAspThrLysAlaLeuArgArgProLysCysAlaGluLeuHisTyrMetValValAlaThrAspGlnGlnThrSerArgGlnAlaGlnAlaGlnLeuLeuValThrValGluGlySerTyrValAlaGluGluAlaGlyCysProLeuSerCysAlaValSerLysArgArgLeuGluCysGluGluCysGlyGlyLeuGlySerProThrGlyArgCysGluTrpArgGlnGlyAspGlyLysGlyIleThrArgAsnPheSerThrCysSerProSerThrLysThrCysProAspGlyHisCysAspValValGluThrGlnAspIleAsnIleCysProGlnAspCysLeuArgGlySerIleValGlyGlyHisGluProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728447" } ], "type": "nucleotide" }