Canonical Allele Identifier: CA10578674
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233521
ClinVar RCV Id: RCV002266937
dbSNP Id: rs876660459

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987263_5987273del , CM000669.2:g.5987263_5987273del GRCh38
NC_000007.13:g.6026894_6026904del , CM000669.1:g.6026894_6026904del GRCh37
NC_000007.12:g.5993420_5993430del NCBI36
NG_008466.1:g.26834_26844del , LRG_161:g.26834_26844del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*888_*898del ENSP00000514615.2:n.*888_*898del
ENST00000699840.2:c.1489_1499del ENSP00000514638.2:p.Ser497GlyfsTer3
ENST00000699930.2:c.1384_1394del ENSP00000514695.2:p.Ser462GlyfsTer3
ENST00000406569.8:c.1492_1502del ENSP00000514464.1:p.Ser498GlyfsTer3
ENST00000644110.2:c.*1086_*1096del ENSP00000496392.2:n.*1086_*1096del
ENST00000699752.1:c.1336_1346del ENSP00000514561.1:p.Ser446GlyfsTer3
ENST00000699753.1:c.*913_*923del ENSP00000514562.1:n.*913_*923del
ENST00000699754.1:c.1294_1304del ENSP00000514563.1:p.Ser432GlyfsTer3
ENST00000699755.1:c.*891_*901del ENSP00000514564.1:n.*891_*901del
ENST00000699756.1:c.*1079_*1089del ENSP00000514565.1:n.*1079_*1089del
ENST00000699757.1:c.*749_*759del ENSP00000514566.1:n.*749_*759del
ENST00000699758.1:c.*749_*759del ENSP00000514567.1:n.*749_*759del
ENST00000699759.1:n.2346_2356del
ENST00000699760.1:c.1174_1184del ENSP00000514568.1:p.Ser392GlyfsTer3
ENST00000699761.1:c.1087_1097del ENSP00000514569.1:p.Ser363GlyfsTer3
ENST00000699762.1:c.919_929del ENSP00000514570.1:p.Ser307GlyfsTer3
ENST00000699763.1:c.*582_*592del ENSP00000514571.1:n.*582_*592del
ENST00000699764.1:c.1492_1502del ENSP00000514572.1:p.Ser498GlyfsTer3
ENST00000699765.1:c.*588_*598del ENSP00000514573.1:n.*588_*598del
ENST00000699766.1:c.1492_1502del ENSP00000514574.1:p.Ser498GlyfsTer3
ENST00000699767.1:c.1492_1502del ENSP00000514575.1:p.Ser498GlyfsTer3
ENST00000699768.1:c.1492_1502del ENSP00000514576.1:p.Ser498GlyfsTer3
ENST00000699811.1:c.1087_1097del ENSP00000514614.1:p.Ser363GlyfsTer3
ENST00000699813.1:n.1605_1615del
ENST00000699814.1:c.1115_1125del
ENST00000699815.1:c.*1023_*1033del ENSP00000514616.1:n.*1023_*1033del
ENST00000699816.1:c.*382_*392del ENSP00000514617.1:n.*382_*392del
ENST00000699817.1:c.*1086_*1096del ENSP00000514618.1:n.*1086_*1096del
ENST00000699818.1:c.1087_1097del ENSP00000514619.1:p.Ser363GlyfsTer3
ENST00000699819.1:c.*649_*659del ENSP00000514620.1:n.*649_*659del
ENST00000699820.1:c.1144+2527_1144+2537del ENSP00000514621.1:n.1144+2527_1144+2537de...
ENST00000699821.1:c.1087_1097del ENSP00000514622.1:p.Ser363GlyfsTer3
ENST00000699822.1:c.*944_*954del ENSP00000514623.1:n.*944_*954del
ENST00000699823.1:c.1087_1097del ENSP00000514624.1:p.Ser363GlyfsTer3
ENST00000699824.1:c.*995_*1005del ENSP00000514625.1:n.*995_*1005del
ENST00000699825.1:c.931_941del ENSP00000514626.1:p.Ser311GlyfsTer3
ENST00000699826.1:c.*891_*901del ENSP00000514627.1:n.*891_*901del
ENST00000699827.1:c.1324_1334del ENSP00000514628.1:p.Ser442GlyfsTer3
ENST00000699828.1:c.*582_*592del ENSP00000514629.1:n.*582_*592del
ENST00000699833.1:n.3264_3274del
ENST00000699837.1:c.1087_1097del ENSP00000514635.1:p.Ser363GlyfsTer3
ENST00000699838.1:c.*1392_*1402del ENSP00000514636.1:n.*1392_*1402del
ENST00000699839.1:c.1678_1688del ENSP00000514637.1:p.Ser560GlyfsTer3
ENST00000699916.1:c.*749_*759del ENSP00000514684.1:n.*749_*759del
ENST00000699917.1:c.*941_*951del ENSP00000514685.1:n.*941_*951del
ENST00000699918.1:c.*993_*1003del ENSP00000514686.1:n.*993_*1003del
ENST00000699919.1:c.*1079_*1089del ENSP00000514687.1:n.*1079_*1089del
ENST00000699920.1:c.*1128_*1138del ENSP00000514688.1:n.*1128_*1138del
ENST00000699928.1:c.989-4282_989-4272del ENSP00000514693.1:n.989-4282_989-4272del
ENST00000699929.1:c.*793_*803del ENSP00000514694.1:n.*793_*803del
ENST00000699930.1:c.1384_1394del ENSP00000514695.1:p.Ser462GlyfsTer3
ENST00000699931.1:n.2920_2930del
ENST00000699951.1:c.*588_*598del ENSP00000514706.1:n.*588_*598del
ENST00000699952.1:c.803+10053_803+10063del ENSP00000514707.1:n.803+10053_803+10063de...
ENST00000699953.1:c.*599_*609del ENSP00000514708.1:n.*599_*609del
ENST00000699954.1:c.*793_*803del ENSP00000514709.1:n.*793_*803del
ENST00000265849.12:c.1492_1502del MANE Select ENSP00000265849.7:p.Ser498GlyfsTer3
ENST00000642292.1:c.1087_1097del ENSP00000495524.1:p.Ser363GlyfsTer3
ENST00000642456.1:c.1087_1097del ENSP00000493814.1:p.Ser363GlyfsTer3
ENST00000643595.1:c.*891_*901del ENSP00000494497.1:n.*891_*901del
ENST00000644110.1:c.1174_1184del ENSP00000496392.1:p.Ser392GlyfsTer3
ENST00000265849.11:c.1492_1502del ENSP00000265849.7:p.Ser498GlyfsTer3
ENST00000382321.5:c.804-4282_804-4272del ENSP00000371758.4:n.804-4282_804-4272del
ENST00000406569.7:n.1492_1502del
ENST00000441476.6:c.1174_1184del ENSP00000392843.2:p.Ser392GlyfsTer3
ENST00000469652.1:n.63-4368_63-4358del
NM_000535.5:c.1492_1502del , LRG_161t1:c.1492_1502del NP_000526.1:p.Ser498GlyfsTer3
NR_003085.2:n.1574_1584del
XM_006715742.2:c.1486_1496del XP_006715805.1:p.Ser496GlyfsTer3
XM_006715744.2:c.559_569del XP_006715807.1:p.Ser187GlyfsTer3
XM_011515427.1:c.1537_1547del XP_011513729.1:p.Ser513GlyfsTer3
XM_011515428.1:c.1381_1391del XP_011513730.1:p.Ser461GlyfsTer3
XM_011515429.1:c.1174_1184del XP_011513731.1:p.Ser392GlyfsTer3
XM_011515430.1:c.1174_1184del XP_011513732.1:p.Ser392GlyfsTer3
NM_000535.6:c.1492_1502del NP_000526.2:p.Ser498GlyfsTer3
NM_001322003.1:c.1087_1097del NP_001308932.1:p.Ser363GlyfsTer3
NM_001322004.1:c.1087_1097del NP_001308933.1:p.Ser363GlyfsTer3
NM_001322005.1:c.1087_1097del NP_001308934.1:p.Ser363GlyfsTer3
NM_001322006.1:c.1336_1346del NP_001308935.1:p.Ser446GlyfsTer3
NM_001322007.1:c.1174_1184del NP_001308936.1:p.Ser392GlyfsTer3
NM_001322008.1:c.1174_1184del NP_001308937.1:p.Ser392GlyfsTer3
NM_001322009.1:c.1087_1097del NP_001308938.1:p.Ser363GlyfsTer3
NM_001322010.1:c.931_941del NP_001308939.1:p.Ser311GlyfsTer3
NM_001322011.1:c.559_569del NP_001308940.1:p.Ser187GlyfsTer3
NM_001322012.1:c.559_569del NP_001308941.1:p.Ser187GlyfsTer3
NM_001322013.1:c.919_929del NP_001308942.1:p.Ser307GlyfsTer3
NM_001322014.1:c.1492_1502del NP_001308943.1:p.Ser498GlyfsTer3
NM_001322015.1:c.1183_1193del NP_001308944.1:p.Ser395GlyfsTer3
NR_136154.1:n.1579_1589del
XM_006715744.4:c.559_569del XP_006715807.1:p.Ser187GlyfsTer3
XM_017012342.2:c.559_569del XP_016867831.1:p.Ser187GlyfsTer3
XM_024446800.1:c.931_941del XP_024302568.1:p.Ser311GlyfsTer3
NM_000535.7:c.1492_1502del MANE Select NP_000526.2:p.Ser498GlyfsTer3
NM_001322003.2:c.1087_1097del NP_001308932.1:p.Ser363GlyfsTer3
NM_001322004.2:c.1087_1097del NP_001308933.1:p.Ser363GlyfsTer3
NM_001322005.2:c.1087_1097del NP_001308934.1:p.Ser363GlyfsTer3
NM_001322006.2:c.1336_1346del NP_001308935.1:p.Ser446GlyfsTer3
NM_001322008.2:c.1174_1184del NP_001308937.1:p.Ser392GlyfsTer3
NM_001322009.2:c.1087_1097del NP_001308938.1:p.Ser363GlyfsTer3
NM_001322010.2:c.931_941del NP_001308939.1:p.Ser311GlyfsTer3
NM_001322011.2:c.559_569del NP_001308940.1:p.Ser187GlyfsTer3
NM_001322012.2:c.559_569del NP_001308941.1:p.Ser187GlyfsTer3
NM_001322013.2:c.919_929del NP_001308942.1:p.Ser307GlyfsTer3
NM_001322014.2:c.1492_1502del NP_001308943.1:p.Ser498GlyfsTer3
NM_001322015.2:c.1183_1193del NP_001308944.1:p.Ser395GlyfsTer3
NM_001322007.2:c.1174_1184del NP_001308936.1:p.Ser392GlyfsTer3