{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253209", "communityStandardTitle": [ "NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19588[alleleid]", "alleleId": 19588, "preferredName": "NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4549", "RCV": [ "RCV000004809" ], "variationId": 4549 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3870317C>G?assembly=hg19", "id": "chr20:g.3870317C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3889670C>G?assembly=hg38", "id": "chr20:g.3889670C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852960", "rs": 137852960 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3889670-C-G?dataset=gnomad_r4", "id": "20-3889670-C-G", "variant": "20:3889670 C / G" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "G", "end": 3889670, "referenceAllele": "C", "start": 3889669 } ], "hgvs": [ "NC_000020.11:g.3889670C>G", "CM000682.2:g.3889670C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "G", "end": 3870317, "referenceAllele": "C", "start": 3870316 } ], "hgvs": [ "NC_000020.10:g.3870317C>G", "CM000682.1:g.3870317C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "G", "end": 3818317, "referenceAllele": "C", "start": 3818316 } ], "hgvs": [ "NC_000020.9:g.3818317C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "G", "end": 5832, "referenceAllele": "C", "start": 5831 } ], "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS826386", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.240C>G" }, "RefSeq": { "hgvs": "NM_001386393.1:c.240C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Tyr80Ter" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Tyr80Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.9:c.570C>G" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Tyr190Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746071" }, { "coordinates": [ { "allele": "G", "end": 282, "referenceAllele": "C", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.8:c.240C>G" ], "proteinEffect": { "hgvs": "ENSP00000477229.2:p.Tyr80Ter", "hgvsWellDefined": "ENSP00000477229.2:p.Tyr80_Arg171delinsSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747545" }, { "coordinates": [ { "allele": "G", "end": 284, "referenceAllele": "C", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.6:c.240C>G" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Tyr80Ter", "hgvsWellDefined": "ENSP00000477429.2:p.Tyr80_Pro460delinsSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761766" }, { "coordinates": [ { "allele": "G", "end": 284, "referenceAllele": "C", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000643504.2:c.240C>G" ], "proteinEffect": { "hgvs": "ENSP00000495157.2:p.Tyr80Ter", "hgvsWellDefined": "ENSP00000495157.2:p.Tyr80_Leu154delinsSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProGlnMetGlySerLeuMetLeuProArgLeuValLeuAsnSerSerTrpSerGlnAlaIlePheProLeuArgProProLysValLeuGlyTyrArgArgGluProLeuCysProThrTrpGlnSerSerThrLysSerPheGlyAsnSerLeuAlaSerTrpLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767317" }, { "coordinates": [ { "allele": "G", "end": 1, "referenceAllele": "C", "start": 0 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000646394.1:c.1C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768849" }, { "coordinates": [ { "allele": "G", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.8:c.570C>G" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Tyr190Ter", "hgvsWellDefined": "ENSP00000313377.4:p.Tyr190_Pro570delinsSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257247" }, { "coordinates": [ { "allele": "G", "end": 282, "referenceAllele": "C", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.7:c.201C>G" ], "proteinEffect": { "hgvs": "ENSP00000477229.1:p.Tyr67Ter", "hgvsWellDefined": "ENSP00000477229.1:p.Tyr67_Arg158delinsSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260236" }, { "coordinates": [ { "allele": "G", "end": 83, "endIntronDirection": "+", "endIntronOffset": 654, "referenceAllele": "C", "start": 83, "startIntronDirection": "+", "startIntronOffset": 653 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000495692.5:c.-538+654C>G" ], "proteinEffect": { "hgvs": "ENSP00000476745.1:n.-538+654C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS332340" }, { "coordinates": [ { "allele": "G", "end": 66, "endIntronDirection": "+", "endIntronOffset": 766, "referenceAllele": "C", "start": 66, "startIntronDirection": "+", "startIntronOffset": 765 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000497424.5:c.-246+766C>G" ], "proteinEffect": { "hgvs": "ENSP00000417609.1:n.-246+766C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS333665" }, { "coordinates": [ { "allele": "G", "end": 256, "referenceAllele": "C", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.5:c.201C>G" ], "proteinEffect": { "hgvs": "ENSP00000477429.1:p.Tyr67Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS400339" }, { "coordinates": [ { "allele": "G", "end": 66, "endIntronDirection": "+", "endIntronOffset": 766, "referenceAllele": "C", "start": 66, "startIntronDirection": "+", "startIntronOffset": 765 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.4:c.-246+766C>G" ], "proteinEffect": { "hgvs": "NP_079236.3:n.-246+766C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS038143" }, { "@id": "http://reg.genome.network/allele/PA253210", "coordinates": [ { "allele": "G", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.2:c.570C>G" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Tyr190Ter", "hgvsWellDefined": "NP_705902.2:p.Tyr190_Pro570delinsSerGlyProThrSerValSerArgGlnArgValGluSerLeuArgLysLysArgProLeuPheProTrpPheGlyLeuAspIleGlyGlyThrLeuValLysLeuValTyrPheGluProLysAspIleThrAlaGluGluGluGluGluGluValGluSerLeuLysSerIleArgLysTyrLeuThrSerAsnValAlaTyrGlySerThrGlyIleArgAspValHisLeuGluLeuLysAspLeuThrLeuCysGlyArgLysGlyAsnLeuHisPheIleArgPheProThrHisAspMetProAlaPheIleGlnMetGlyArgAspLysAsnPheSerSerLeuHisThrValPheCysAlaThrGlyGlyGlyAlaTyrLysPheGluGlnAspPheLeuThrIleGlyAspLeuGlnLeuCysLysLeuAspGluLeuAspCysLeuIleLysGlyIleLeuTyrIleAspSerValGlyPheAsnGlyArgSerGlnCysTyrTyrPheGluAsnProAlaAspSerGluLysCysGlnLysLeuProPheAspLeuLysAsnProTyrProLeuLeuLeuValAsnIleGlySerGlyValSerIleLeuAlaValTyrSerLysAspAsnTyrLysArgValThrGlyThrSerLeuGlyGlyGlyThrPhePheGlyLeuCysCysLeuLeuThrGlyCysThrThrPheGluGluAlaLeuGluMetAlaSerArgGlyAspSerThrLysValAspLysLeuValArgAspIleTyrGlyGlyAspTyrGluArgPheGlyLeuProGlyTrpAlaValAlaSerSerPheGlyAsnMetMetSerLysGluLysArgGluAlaValSerLysGluAspLeuAlaArgAlaThrLeuIleThrIleThrAsnAsnIleGlySerIleAlaArgMetCysAlaLeuAsnGluAsnIleAsnGlnValValPheValGlyAsnPheLeuArgIleAsnThrIleAlaMetArgLeuLeuAlaTyrAlaLeuAspTyrTrpSerLysGlyGlnLeuLysAlaLeuPheSerGluHisGluGlyTyrPheGlyAlaValGlyAlaLeuLeuGluLeuLeuLysIleProTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS729485" } ], "type": "nucleotide" }