Canonical Allele Identifier: CA2695198441
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2673976
ClinVar RCV Id: RCV003450581

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987350_5987353del , CM000669.2:g.5987350_5987353del GRCh38
NC_000007.13:g.6026981_6026984del , CM000669.1:g.6026981_6026984del GRCh37
NC_000007.12:g.5993507_5993510del NCBI36
NG_008466.1:g.26757_26760del , LRG_161:g.26757_26760del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*811_*814del ENSP00000514615.2:n.*811_*814del
ENST00000699840.2:c.1412_1415del ENSP00000514638.2:p.Lys471ArgfsTer3
ENST00000699930.2:c.1307_1310del ENSP00000514695.2:p.Lys436ArgfsTer3
ENST00000406569.8:c.1415_1418del ENSP00000514464.1:p.Lys472ArgfsTer3
ENST00000644110.2:c.*1009_*1012del ENSP00000496392.2:n.*1009_*1012del
ENST00000699752.1:c.1259_1262del ENSP00000514561.1:p.Lys420ArgfsTer3
ENST00000699753.1:c.*836_*839del ENSP00000514562.1:n.*836_*839del
ENST00000699754.1:c.1217_1220del ENSP00000514563.1:p.Lys406ArgfsTer3
ENST00000699755.1:c.*814_*817del ENSP00000514564.1:n.*814_*817del
ENST00000699756.1:c.*1002_*1005del ENSP00000514565.1:n.*1002_*1005del
ENST00000699757.1:c.*672_*675del ENSP00000514566.1:n.*672_*675del
ENST00000699758.1:c.*672_*675del ENSP00000514567.1:n.*672_*675del
ENST00000699759.1:n.2269_2272del
ENST00000699760.1:c.1097_1100del ENSP00000514568.1:p.Lys366ArgfsTer3
ENST00000699761.1:c.1010_1013del ENSP00000514569.1:p.Lys337ArgfsTer3
ENST00000699762.1:c.842_845del ENSP00000514570.1:p.Lys281ArgfsTer3
ENST00000699763.1:c.*505_*508del ENSP00000514571.1:n.*505_*508del
ENST00000699764.1:c.1415_1418del ENSP00000514572.1:p.Lys472ArgfsTer3
ENST00000699765.1:c.*511_*514del ENSP00000514573.1:n.*511_*514del
ENST00000699766.1:c.1415_1418del ENSP00000514574.1:p.Lys472ArgfsTer3
ENST00000699767.1:c.1415_1418del ENSP00000514575.1:p.Lys472ArgfsTer3
ENST00000699768.1:c.1415_1418del ENSP00000514576.1:p.Lys472ArgfsTer3
ENST00000699811.1:c.1010_1013del ENSP00000514614.1:p.Lys337ArgfsTer3
ENST00000699813.1:n.1528_1531del
ENST00000699814.1:c.1038_1041del
ENST00000699815.1:c.*946_*949del ENSP00000514616.1:n.*946_*949del
ENST00000699816.1:c.*305_*308del ENSP00000514617.1:n.*305_*308del
ENST00000699817.1:c.*1009_*1012del ENSP00000514618.1:n.*1009_*1012del
ENST00000699818.1:c.1010_1013del ENSP00000514619.1:p.Lys337ArgfsTer3
ENST00000699819.1:c.*572_*575del ENSP00000514620.1:n.*572_*575del
ENST00000699820.1:c.1144+2450_1144+2453del ENSP00000514621.1:n.1144+2450_1144+2453del
ENST00000699821.1:c.1010_1013del ENSP00000514622.1:p.Lys337ArgfsTer3
ENST00000699822.1:c.*867_*870del ENSP00000514623.1:n.*867_*870del
ENST00000699823.1:c.1010_1013del ENSP00000514624.1:p.Lys337ArgfsTer3
ENST00000699824.1:c.*918_*921del ENSP00000514625.1:n.*918_*921del
ENST00000699825.1:c.854_857del ENSP00000514626.1:p.Lys285ArgfsTer3
ENST00000699826.1:c.*814_*817del ENSP00000514627.1:n.*814_*817del
ENST00000699827.1:c.1247_1250del ENSP00000514628.1:p.Lys416ArgfsTer3
ENST00000699828.1:c.*505_*508del ENSP00000514629.1:n.*505_*508del
ENST00000699833.1:n.3187_3190del
ENST00000699837.1:c.1010_1013del ENSP00000514635.1:p.Lys337ArgfsTer3
ENST00000699838.1:c.*1315_*1318del ENSP00000514636.1:n.*1315_*1318del
ENST00000699839.1:c.1601_1604del ENSP00000514637.1:p.Lys534ArgfsTer3
ENST00000699916.1:c.*672_*675del ENSP00000514684.1:n.*672_*675del
ENST00000699917.1:c.*864_*867del ENSP00000514685.1:n.*864_*867del
ENST00000699918.1:c.*916_*919del ENSP00000514686.1:n.*916_*919del
ENST00000699919.1:c.*1002_*1005del ENSP00000514687.1:n.*1002_*1005del
ENST00000699920.1:c.*1051_*1054del ENSP00000514688.1:n.*1051_*1054del
ENST00000699928.1:c.989-4359_989-4356del ENSP00000514693.1:n.989-4359_989-4356del
ENST00000699929.1:c.*716_*719del ENSP00000514694.1:n.*716_*719del
ENST00000699930.1:c.1307_1310del ENSP00000514695.1:p.Lys436ArgfsTer3
ENST00000699931.1:n.2843_2846del
ENST00000699951.1:c.*511_*514del ENSP00000514706.1:n.*511_*514del
ENST00000699952.1:c.803+9976_803+9979del ENSP00000514707.1:n.803+9976_803+9979del
ENST00000699953.1:c.*522_*525del ENSP00000514708.1:n.*522_*525del
ENST00000699954.1:c.*716_*719del ENSP00000514709.1:n.*716_*719del
ENST00000265849.12:c.1415_1418del MANE Select ENSP00000265849.7:p.Lys472ArgfsTer3
ENST00000642292.1:c.1010_1013del ENSP00000495524.1:p.Lys337ArgfsTer3
ENST00000642456.1:c.1010_1013del ENSP00000493814.1:p.Lys337ArgfsTer3
ENST00000643595.1:c.*814_*817del ENSP00000494497.1:n.*814_*817del
ENST00000644110.1:c.1097_1100del ENSP00000496392.1:p.Lys366ArgfsTer3
ENST00000265849.11:c.1415_1418del ENSP00000265849.7:p.Lys472ArgfsTer3
ENST00000382321.5:c.804-4359_804-4356del ENSP00000371758.4:n.804-4359_804-4356del
ENST00000406569.7:n.1415_1418del
ENST00000441476.6:c.1097_1100del ENSP00000392843.2:p.Lys366ArgfsTer3
ENST00000469652.1:n.63-4445_63-4442del
NM_000535.5:c.1415_1418del , LRG_161t1:c.1415_1418del NP_000526.1:p.Lys472ArgfsTer3
NR_003085.2:n.1497_1500del
XM_006715742.2:c.1409_1412del XP_006715805.1:p.Lys470ArgfsTer3
XM_006715744.2:c.482_485del XP_006715807.1:p.Lys161ArgfsTer3
XM_011515427.1:c.1460_1463del XP_011513729.1:p.Lys487ArgfsTer3
XM_011515428.1:c.1304_1307del XP_011513730.1:p.Lys435ArgfsTer3
XM_011515429.1:c.1097_1100del XP_011513731.1:p.Lys366ArgfsTer3
XM_011515430.1:c.1097_1100del XP_011513732.1:p.Lys366ArgfsTer3
NM_000535.6:c.1415_1418del NP_000526.2:p.Lys472ArgfsTer3
NM_001322003.1:c.1010_1013del NP_001308932.1:p.Lys337ArgfsTer3
NM_001322004.1:c.1010_1013del NP_001308933.1:p.Lys337ArgfsTer3
NM_001322005.1:c.1010_1013del NP_001308934.1:p.Lys337ArgfsTer3
NM_001322006.1:c.1259_1262del NP_001308935.1:p.Lys420ArgfsTer3
NM_001322007.1:c.1097_1100del NP_001308936.1:p.Lys366ArgfsTer3
NM_001322008.1:c.1097_1100del NP_001308937.1:p.Lys366ArgfsTer3
NM_001322009.1:c.1010_1013del NP_001308938.1:p.Lys337ArgfsTer3
NM_001322010.1:c.854_857del NP_001308939.1:p.Lys285ArgfsTer3
NM_001322011.1:c.482_485del NP_001308940.1:p.Lys161ArgfsTer3
NM_001322012.1:c.482_485del NP_001308941.1:p.Lys161ArgfsTer3
NM_001322013.1:c.842_845del NP_001308942.1:p.Lys281ArgfsTer3
NM_001322014.1:c.1415_1418del NP_001308943.1:p.Lys472ArgfsTer3
NM_001322015.1:c.1106_1109del NP_001308944.1:p.Lys369ArgfsTer3
NR_136154.1:n.1502_1505del
XM_006715744.4:c.482_485del XP_006715807.1:p.Lys161ArgfsTer3
XM_017012342.2:c.482_485del XP_016867831.1:p.Lys161ArgfsTer3
XM_024446800.1:c.854_857del XP_024302568.1:p.Lys285ArgfsTer3
NM_000535.7:c.1415_1418del MANE Select NP_000526.2:p.Lys472ArgfsTer3
NM_001322003.2:c.1010_1013del NP_001308932.1:p.Lys337ArgfsTer3
NM_001322004.2:c.1010_1013del NP_001308933.1:p.Lys337ArgfsTer3
NM_001322005.2:c.1010_1013del NP_001308934.1:p.Lys337ArgfsTer3
NM_001322006.2:c.1259_1262del NP_001308935.1:p.Lys420ArgfsTer3
NM_001322008.2:c.1097_1100del NP_001308937.1:p.Lys366ArgfsTer3
NM_001322009.2:c.1010_1013del NP_001308938.1:p.Lys337ArgfsTer3
NM_001322010.2:c.854_857del NP_001308939.1:p.Lys285ArgfsTer3
NM_001322011.2:c.482_485del NP_001308940.1:p.Lys161ArgfsTer3
NM_001322012.2:c.482_485del NP_001308941.1:p.Lys161ArgfsTer3
NM_001322013.2:c.842_845del NP_001308942.1:p.Lys281ArgfsTer3
NM_001322014.2:c.1415_1418del NP_001308943.1:p.Lys472ArgfsTer3
NM_001322015.2:c.1106_1109del NP_001308944.1:p.Lys369ArgfsTer3
NM_001322007.2:c.1097_1100del NP_001308936.1:p.Lys366ArgfsTer3