{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8873522", "communityStandardTitle": [ "NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=570061[alleleid]", "alleleId": 570061, "preferredName": "NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/567272", "RCV": [ "RCV000687297" ], "variationId": 567272 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/18-2951054-G-A", "id": "18-2951054-G-A", "variant": "18:2951054 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.2951054G>A?assembly=hg19", "id": "chr18:g.2951054G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.2951056G>A?assembly=hg38", "id": "chr18:g.2951056G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/750126005", "rs": 750126005 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-2951054-G-A?dataset=gnomad_r2_1", "id": "18-2951054-G-A", "variant": "18:2951054 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-2951056-G-A?dataset=gnomad_r3", "id": "18-2951056-G-A", "variant": "18:2951056 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/18-2951056-G-A?dataset=gnomad_r4", "id": "18-2951056-G-A", "variant": "18:2951056 G / A" } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 2951056, "referenceAllele": "G", "start": 2951055 } ], "hgvs": [ "NC_000018.10:g.2951056G>A", "CM000680.2:g.2951056G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 2951054, "referenceAllele": "G", "start": 2951053 } ], "hgvs": [ "NC_000018.9:g.2951054G>A", "CM000680.1:g.2951054G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "A", "end": 2941054, "referenceAllele": "G", "start": 2941053 } ], "hgvs": [ "NC_000018.8:g.2941054G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "T", "end": 65892, "referenceAllele": "C", "start": 65891 } ], "hgvs": [ "NG_007507.1:g.65892C>T", "LRG_174:g.65892C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000627" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000261596.9:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000261596.4:p.Arg197Ter", "hgvsWellDefined": "ENSP00000261596.4:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904318" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697039.1:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000513061.1:p.Arg197Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS908470" }, { "coordinates": [ { "allele": "T", "end": 704, "referenceAllele": "C", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697040.1:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000513062.1:p.Arg197Ter", "hgvsWellDefined": "ENSP00000513062.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908471" }, { "coordinates": [ { "allele": "T", "end": 684, "referenceAllele": "C", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697042.1:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000513064.1:p.Arg197Ter", "hgvsWellDefined": "ENSP00000513064.1:p.Arg197_Lys648del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908473" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000677752.1:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000504857.1:p.Arg197Ter", "hgvsWellDefined": "ENSP00000504857.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777405", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677752.1:c.589C>T" }, "RefSeq": { "hgvs": "NM_001375808.2:c.589C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504857.1:p.Arg197Ter" }, "RefSeq": { "hgvs": "NP_001362737.1:p.Arg197Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000261596.8:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000261596.4:p.Arg197Ter", "hgvsWellDefined": "ENSP00000261596.4:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250788" }, { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000584294.1:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000463026.1:p.Arg197Ter", "hgvsWellDefined": "ENSP00000463026.1:p.Arg197_Thr233del" }, "referenceSequence": "http://reg.genome.network/refseq/RS388144" }, { "@id": "http://reg.genome.network/allele/PA891856665", "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_014646.2:c.589C>T", "LRG_174t1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_055461.1:p.Arg197Ter", "hgvsWellDefined": "NP_055461.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033335" }, { "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258177.3:c.700C>T" ], "proteinEffect": { "hgvs": "XP_005258234.1:p.Arg234Ter", "hgvsWellDefined": "XP_005258234.1:p.Arg234_Ser933delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061978" }, { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258178.2:c.589C>T" ], "proteinEffect": { "hgvs": "XP_005258235.1:p.Arg197Ter", "hgvsWellDefined": "XP_005258235.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061979" }, { "coordinates": [ { "allele": "T", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258179.3:c.589C>T" ], "proteinEffect": { "hgvs": "XP_005258236.1:p.Arg197Ter", "hgvsWellDefined": "XP_005258236.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061980" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XR_935074.1:n.718C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS130354" }, { "coordinates": [ { "allele": "T", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258177.4:c.700C>T" ], "proteinEffect": { "hgvs": "XP_005258234.1:p.Arg234Ter", "hgvsWellDefined": "XP_005258234.1:p.Arg234_Ser933delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534793" }, { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258178.3:c.589C>T" ], "proteinEffect": { "hgvs": "XP_005258235.1:p.Arg197Ter", "hgvsWellDefined": "XP_005258235.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534794" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258179.5:c.589C>T" ], "proteinEffect": { "hgvs": "XP_005258236.1:p.Arg197Ter", "hgvsWellDefined": "XP_005258236.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534795" }, { "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_017026098.1:c.589C>T" ], "proteinEffect": { "hgvs": "XP_016881587.1:p.Arg197Ter", "hgvsWellDefined": "XP_016881587.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576306" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_017026099.1:c.589C>T" ], "proteinEffect": { "hgvs": "XP_016881588.1:p.Arg197Ter", "hgvsWellDefined": "XP_016881588.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576307" }, { "coordinates": [ { "allele": "T", "end": 763, "referenceAllele": "C", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XR_935074.2:n.763C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610881" }, { "@id": "http://reg.genome.network/allele/PA2828628830", "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_001375808.1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001362737.1:p.Arg197Ter", "hgvsWellDefined": "NP_001362737.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693890" }, { "@id": "http://reg.genome.network/allele/PA2828629304", "coordinates": [ { "allele": "T", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_001375809.1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001362738.1:p.Arg197Ter", "hgvsWellDefined": "NP_001362738.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693891" }, { "@id": "http://reg.genome.network/allele/PA2828628830", "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_001375808.2:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001362737.1:p.Arg197Ter", "hgvsWellDefined": "NP_001362737.1:p.Arg197_Ser896delinsGlySerSerAsnAlaSerLeuLysGluGluGluCysLysGluProLeuLeuPheHisSerGlyAspHisTyrProLeuSerAspGlyAspTrpSerProLeuGluThrThrTyrProGlnThrAlaCysProLysSerAspSerGluLeuGluValLysProAlaGluSerLeuLeuArgSerGluSerHisMetGluTrpThrTrpGlyGlyPheProGluSerThrLysValSerLysArgGluArgSerAspHisHisProArgThrAlaThrIleThrProSerGluAsnThrHisPheArgValIleProSerGluAspAsnLeuIleSerGluValGluLysAspAlaSerMetGluAspThrValCysThrIleValLysProLysProArgAlaLeuGlyThrGlnMetSerAspProThrSerValAlaGluLeuLeuGluProProLeuGluSerThrGlnIleSerSerMetLeuAspAlaAspHisLeuProAsnAlaAlaLeuAlaGluAlaProSerGluSerLysProAlaAlaLysValAspSerProSerLysLysLysGlyValHisLysArgSerGlnHisGlnGlyProAspAspIleTyrLeuAspAspLeuLysGlyLeuGluProGluValAlaAlaLeuTyrPheProLysSerGluSerGluProGlySerArgGlnTrpProGluSerAspThrLeuSerGlySerGlnSerProGlnSerValGlySerAlaAlaAlaAspSerGlyThrGluCysLeuSerAspSerAlaMetAspLeuProAspValThrLeuSerLeuCysGlyGlyLeuSerGluAsnGlyGluIleSerLysGluLysPheMetGluHisIleIleThrTyrHisGluPheAlaGluAsnProGlyLeuIleAspAsnProAsnLeuValIleArgIleTyrAsnArgTyrTyrAsnTrpAlaLeuAlaAlaProMetIleLeuSerLeuGlnValPheGlnLysSerLeuProLysAlaThrValGluSerTrpValLysAspLysMetProLysLysSerGlyArgTrpTrpPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677752.1:c.589C>T" }, "RefSeq": { "hgvs": "NM_001375808.2:c.589C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504857.1:p.Arg197Ter" }, "RefSeq": { "hgvs": "NP_001362737.1:p.Arg197Ter" } } } } ], "type": "nucleotide" }