{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401708993", "communityStandardTitle": [ "NM_001375808.2(LPIN2):c.475A>T (p.Arg159Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2907496[alleleid]", "alleleId": 2907496, "preferredName": "NM_001375808.2(LPIN2):c.475A>T (p.Arg159Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2745437", "RCV": [ "RCV003504635" ], "variationId": 2745437 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.2951168T>A?assembly=hg19", "id": "chr18:g.2951168T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.2951170T>A?assembly=hg38", "id": "chr18:g.2951170T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2510282875", "rs": 2510282875 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 2951170, "referenceAllele": "T", "start": 2951169 } ], "hgvs": [ "NC_000018.10:g.2951170T>A", "CM000680.2:g.2951170T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 2951168, "referenceAllele": "T", "start": 2951167 } ], "hgvs": [ "NC_000018.9:g.2951168T>A", "CM000680.1:g.2951168T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 2941168, "referenceAllele": "T", "start": 2941167 } ], "hgvs": [ "NC_000018.8:g.2941168T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "T", "end": 65778, "referenceAllele": "A", "start": 65777 } ], "hgvs": [ "NG_007507.1:g.65778A>T", "LRG_174:g.65778A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000627" } ], "transcriptAlleles": [ { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS904318" }, { "coordinates": [ { "allele": "T", "end": 690, "referenceAllele": "A", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000584915.2:c.586A>T" ], "proteinEffect": { "hgvs": "ENSP00000463810.2:p.Arg196Ter", "hgvsWellDefined": "ENSP00000463810.2:p.Arg196_Lys198del" }, "referenceSequence": "http://reg.genome.network/refseq/RS906050" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "A", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697039.1:c.475A>T" ], "proteinEffect": { "hgvs": "ENSP00000513061.1:p.Arg159Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS908470" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "A", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697040.1:c.475A>T" ], "proteinEffect": { "hgvs": "ENSP00000513062.1:p.Arg159Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS908471" }, { "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "A", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697042.1:c.475A>T" ], "proteinEffect": { "hgvs": "ENSP00000513064.1:p.Arg159Ter", "hgvsWellDefined": "ENSP00000513064.1:p.Arg159_Lys648del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908473" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "A", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697043.1:c.475A>T" ], "proteinEffect": { "hgvs": "ENSP00000513065.1:p.Arg159Ter", "hgvsWellDefined": "ENSP00000513065.1:p.Arg159_Glu170del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908474" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "A", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000677752.1:c.475A>T" ], "proteinEffect": { "hgvs": "ENSP00000504857.1:p.Arg159Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS777405", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677752.1:c.475A>T" }, "RefSeq": { "hgvs": "NM_001375808.2:c.475A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504857.1:p.Arg159Ter" }, "RefSeq": { "hgvs": "NP_001362737.1:p.Arg159Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "A", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000261596.8:c.475A>T" ], "proteinEffect": { "hgvs": "ENSP00000261596.4:p.Arg159Ter", "hgvsWellDefined": "ENSP00000261596.4:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250788" }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "A", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000584294.1:c.475A>T" ], "proteinEffect": { "hgvs": "ENSP00000463026.1:p.Arg159Ter", "hgvsWellDefined": "ENSP00000463026.1:p.Arg159_Thr233del" }, "referenceSequence": "http://reg.genome.network/refseq/RS388144" }, { "@id": "http://reg.genome.network/allele/PA2741942065", "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "A", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_014646.2:c.475A>T", "LRG_174t1:c.475A>T" ], "proteinEffect": { "hgvs": "NP_055461.1:p.Arg159Ter", "hgvsWellDefined": "NP_055461.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033335" }, { "coordinates": [ { "allele": "T", "end": 710, "referenceAllele": "A", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258177.3:c.586A>T" ], "proteinEffect": { "hgvs": "XP_005258234.1:p.Arg196Ter", "hgvsWellDefined": "XP_005258234.1:p.Arg196_Ser933delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061978" }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "A", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258178.2:c.475A>T" ], "proteinEffect": { "hgvs": "XP_005258235.1:p.Arg159Ter", "hgvsWellDefined": "XP_005258235.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061979" }, { "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "A", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258179.3:c.475A>T" ], "proteinEffect": { "hgvs": "XP_005258236.1:p.Arg159Ter", "hgvsWellDefined": "XP_005258236.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061980" }, { "coordinates": [ { "allele": "T", "end": 604, "referenceAllele": "A", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XR_935074.1:n.604A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS130354" }, { "coordinates": [ { "allele": "T", "end": 784, "referenceAllele": "A", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258177.4:c.586A>T" ], "proteinEffect": { "hgvs": "XP_005258234.1:p.Arg196Ter", "hgvsWellDefined": "XP_005258234.1:p.Arg196_Ser933delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534793" }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "A", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258178.3:c.475A>T" ], "proteinEffect": { "hgvs": "XP_005258235.1:p.Arg159Ter", "hgvsWellDefined": "XP_005258235.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534794" }, { "coordinates": [ { "allele": "T", "end": 648, "referenceAllele": "A", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258179.5:c.475A>T" ], "proteinEffect": { "hgvs": "XP_005258236.1:p.Arg159Ter", "hgvsWellDefined": "XP_005258236.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534795" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "A", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_017026098.1:c.475A>T" ], "proteinEffect": { "hgvs": "XP_016881587.1:p.Arg159Ter", "hgvsWellDefined": "XP_016881587.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576306" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "A", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_017026099.1:c.475A>T" ], "proteinEffect": { "hgvs": "XP_016881588.1:p.Arg159Ter", "hgvsWellDefined": "XP_016881588.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576307" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "A", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XR_935074.2:n.649A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610881" }, { "@id": "http://reg.genome.network/allele/PA2828628806", "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "A", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_001375808.1:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001362737.1:p.Arg159Ter", "hgvsWellDefined": "NP_001362737.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693890" }, { "@id": "http://reg.genome.network/allele/PA2828629281", "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "A", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_001375809.1:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001362738.1:p.Arg159Ter", "hgvsWellDefined": "NP_001362738.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693891" }, { "@id": "http://reg.genome.network/allele/PA2828628806", "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "A", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_001375808.2:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001362737.1:p.Arg159Ter", "hgvsWellDefined": "NP_001362737.1:p.Arg159_Ser896delinsLysLysTyrLysGlnAspSerLysLysGluGluGlnAlaAlaSerAlaAlaAlaGluAspThrCysAspValGlyValSerSerAspAspAspLysGlyAlaGlnAlaAlaArgGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677752.1:c.475A>T" }, "RefSeq": { "hgvs": "NM_001375808.2:c.475A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504857.1:p.Arg159Ter" }, "RefSeq": { "hgvs": "NP_001362737.1:p.Arg159Ter" } } } } ], "type": "nucleotide" }