{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA357984204", "communityStandardTitle": [ "NM_000325.6(PITX2):c.534C>A (p.Tyr178Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.111539722G>T?assembly=hg19", "id": "chr4:g.111539722G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.110618566G>T?assembly=hg38", "id": "chr4:g.110618566G>T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 110618566, "referenceAllele": "G", "start": 110618565 } ], "hgvs": [ "NC_000004.12:g.110618566G>T", "CM000666.2:g.110618566G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 111539722, "referenceAllele": "G", "start": 111539721 } ], "hgvs": [ "NC_000004.11:g.111539722G>T", "CM000666.1:g.111539722G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 111759171, "referenceAllele": "G", "start": 111759170 } ], "hgvs": [ "NC_000004.10:g.111759171G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 23787, "referenceAllele": "C", "start": 23786 } ], "hgvs": [ "NG_007120.1:g.23787C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000494" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "C", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000613094.5:c.307C>A" ], "proteinEffect": { "hgvs": "ENSP00000484763.2:p.Pro103Thr", "hgvsWellDefined": "ENSP00000484763.2:p.Pro103Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS826434" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000614423.5:c.432C>A" ], "proteinEffect": { "hgvs": "ENSP00000481951.2:p.Tyr144Ter", "hgvsWellDefined": "ENSP00000481951.2:p.Tyr144_Val290delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826452" }, { "coordinates": [ { "allele": "A", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000616641.5:n.500C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826487" }, { "coordinates": [ { "allele": "A", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000644488.2:n.504C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826732" }, { "coordinates": [ { "allele": "A", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000394595.8:c.513C>A" ], "proteinEffect": { "hgvs": "ENSP00000378095.4:p.Tyr171Ter", "hgvsWellDefined": "ENSP00000378095.4:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753279" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000644488.1:n.576C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767840" }, { "coordinates": [ { "allele": "A", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000644743.1:c.534C>A" ], "proteinEffect": { "hgvs": "ENSP00000495061.1:p.Tyr178Ter", "hgvsWellDefined": "ENSP00000495061.1:p.Tyr178_Val324delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767970", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644743.1:c.534C>A" }, "RefSeq": { "hgvs": "NM_000325.6:c.534C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495061.1:p.Tyr178Ter" }, "RefSeq": { "hgvs": "NP_000316.2:p.Tyr178Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 465, "referenceAllele": "C", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000645131.1:n.465C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768187" }, { "coordinates": [ { "allele": "A", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000306732.7:c.534C>A" ], "proteinEffect": { "hgvs": "ENSP00000304169.3:p.Tyr178Ter", "hgvsWellDefined": "ENSP00000304169.3:p.Tyr178_Val324delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255781" }, { "coordinates": [ { "allele": "A", "end": 2219, "referenceAllele": "C", "start": 2218 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000354925.6:c.513C>A" ], "proteinEffect": { "hgvs": "ENSP00000347004.2:p.Tyr171Ter", "hgvsWellDefined": "ENSP00000347004.2:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263282" }, { "coordinates": [ { "allele": "A", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000355080.9:c.375C>A" ], "proteinEffect": { "hgvs": "ENSP00000347192.5:p.Tyr125Ter", "hgvsWellDefined": "ENSP00000347192.5:p.Tyr125_Val271delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263324" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "C", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000394595.7:c.307C>A" ], "proteinEffect": { "hgvs": "ENSP00000378095.3:p.Pro103Thr", "hgvsWellDefined": "ENSP00000378095.3:p.Pro103Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS276235" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "C", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000394598.6:c.513C>A" ], "proteinEffect": { "hgvs": "ENSP00000378097.2:p.Tyr171Ter", "hgvsWellDefined": "ENSP00000378097.2:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276237" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000511837.5:c.513C>A" ], "proteinEffect": { "hgvs": "ENSP00000421454.1:p.Tyr171Ter", "hgvsWellDefined": "ENSP00000421454.1:p.Tyr171_Gln290del" }, "referenceSequence": "http://reg.genome.network/refseq/RS342017" }, { "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "C", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000556049.1:n.840C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS371922" }, { "coordinates": [ { "allele": "A", "end": 261, "referenceAllele": "C", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000607868.1:n.261C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS399957" }, { "coordinates": [ { "allele": "A", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000613094.4:c.513C>A" ], "proteinEffect": { "hgvs": "ENSP00000484763.1:p.Tyr171Ter", "hgvsWellDefined": "ENSP00000484763.1:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401598" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000614423.4:c.513C>A" ], "proteinEffect": { "hgvs": "ENSP00000481951.1:p.Tyr171Ter", "hgvsWellDefined": "ENSP00000481951.1:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402187" }, { "coordinates": [ { "allele": "A", "end": 1964, "referenceAllele": "C", "start": 1963 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000616641.4:c.375C>A" ], "proteinEffect": { "hgvs": "ENSP00000484909.1:p.Tyr125Ter", "hgvsWellDefined": "ENSP00000484909.1:p.Tyr125_Val271delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403134" }, { "@id": "http://reg.genome.network/allele/PA915960389", "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_000325.5:c.534C>A" ], "proteinEffect": { "hgvs": "NP_000316.2:p.Tyr178Ter", "hgvsWellDefined": "NP_000316.2:p.Tyr178_Val324delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006388" }, { "@id": "http://reg.genome.network/allele/PA2826271567", "coordinates": [ { "allele": "A", "end": 2336, "referenceAllele": "C", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.1:c.513C>A" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Tyr171Ter", "hgvsWellDefined": "NP_001191326.1:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017634" }, { "@id": "http://reg.genome.network/allele/PA2826271651", "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204398.1:c.513C>A" ], "proteinEffect": { "hgvs": "NP_001191327.1:p.Tyr171Ter", "hgvsWellDefined": "NP_001191327.1:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017635" }, { "@id": "http://reg.genome.network/allele/PA2826271734", "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204399.1:c.375C>A" ], "proteinEffect": { "hgvs": "NP_001191328.1:p.Tyr125Ter", "hgvsWellDefined": "NP_001191328.1:p.Tyr125_Val271delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017636" }, { "@id": "http://reg.genome.network/allele/PA2830327806", "coordinates": [ { "allele": "A", "end": 2102, "referenceAllele": "C", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.2:c.513C>A" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Tyr171Ter", "hgvsWellDefined": "NP_700475.1:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042385" }, { "@id": "http://reg.genome.network/allele/PA2830328022", "coordinates": [ { "allele": "A", "end": 1964, "referenceAllele": "C", "start": 1963 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.2:c.375C>A" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Tyr125Ter", "hgvsWellDefined": "NP_700476.1:p.Tyr125_Val271delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042386" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "C", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_006714235.2:c.513C>A" ], "proteinEffect": { "hgvs": "XP_006714298.1:p.Tyr171Ter", "hgvsWellDefined": "XP_006714298.1:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070560" }, { "coordinates": [ { "allele": "A", "end": 1816, "referenceAllele": "C", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_011532027.1:c.375C>A" ], "proteinEffect": { "hgvs": "XP_011530329.1:p.Tyr125Ter", "hgvsWellDefined": "XP_011530329.1:p.Tyr125_Val271delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099055" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_024454090.1:c.180C>A" ], "proteinEffect": { "hgvs": "XP_024309858.1:p.Tyr60Ter", "hgvsWellDefined": "XP_024309858.1:p.Tyr60_Val206delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587460" }, { "@id": "http://reg.genome.network/allele/PA915960389", "coordinates": [ { "allele": "A", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_000325.6:c.534C>A" ], "proteinEffect": { "hgvs": "NP_000316.2:p.Tyr178Ter", "hgvsWellDefined": "NP_000316.2:p.Tyr178_Val324delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644743.1:c.534C>A" }, "RefSeq": { "hgvs": "NM_000325.6:c.534C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495061.1:p.Tyr178Ter" }, "RefSeq": { "hgvs": "NP_000316.2:p.Tyr178Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826271567", "coordinates": [ { "allele": "A", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.2:c.513C>A" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Tyr171Ter", "hgvsWellDefined": "NP_001191326.1:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781738" }, { "@id": "http://reg.genome.network/allele/PA2830327806", "coordinates": [ { "allele": "A", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.3:c.513C>A" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Tyr171Ter", "hgvsWellDefined": "NP_700475.1:p.Tyr171_Val317delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784313" }, { "@id": "http://reg.genome.network/allele/PA2830328022", "coordinates": [ { "allele": "A", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.3:c.375C>A" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Tyr125Ter", "hgvsWellDefined": "NP_700476.1:p.Tyr125_Val271delinsProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784314" } ], "type": "nucleotide" }