Canonical Allele Identifier: CA2695198444
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674272
ClinVar RCV Id: RCV003452468

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987435_5987436dup , CM000669.2:g.5987435_5987436dup GRCh38
NC_000007.13:g.6027066_6027067dup , CM000669.1:g.6027066_6027067dup GRCh37
NC_000007.12:g.5993592_5993593dup NCBI36
NG_008466.1:g.26671_26672dup , LRG_161:g.26671_26672dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*725_*726dup ENSP00000514615.2:n.*725_*726dup
ENST00000699840.2:c.1326_1327dup ENSP00000514638.2:p.Arg443LysfsTer5
ENST00000699930.2:c.1221_1222dup ENSP00000514695.2:p.Arg408LysfsTer5
ENST00000406569.8:c.1329_1330dup ENSP00000514464.1:p.Arg444LysfsTer5
ENST00000644110.2:c.*923_*924dup ENSP00000496392.2:n.*923_*924dup
ENST00000699752.1:c.1173_1174dup ENSP00000514561.1:p.Arg392LysfsTer5
ENST00000699753.1:c.*750_*751dup ENSP00000514562.1:n.*750_*751dup
ENST00000699754.1:c.1131_1132dup ENSP00000514563.1:p.Arg378LysfsTer5
ENST00000699755.1:c.*728_*729dup ENSP00000514564.1:n.*728_*729dup
ENST00000699756.1:c.*916_*917dup ENSP00000514565.1:n.*916_*917dup
ENST00000699757.1:c.*586_*587dup ENSP00000514566.1:n.*586_*587dup
ENST00000699758.1:c.*586_*587dup ENSP00000514567.1:n.*586_*587dup
ENST00000699759.1:n.2183_2184dup
ENST00000699760.1:c.1011_1012dup ENSP00000514568.1:p.Arg338LysfsTer5
ENST00000699761.1:c.924_925dup ENSP00000514569.1:p.Arg309LysfsTer5
ENST00000699762.1:c.756_757dup ENSP00000514570.1:p.Arg253LysfsTer5
ENST00000699763.1:c.*419_*420dup ENSP00000514571.1:n.*419_*420dup
ENST00000699764.1:c.1329_1330dup ENSP00000514572.1:p.Arg444LysfsTer5
ENST00000699765.1:c.*425_*426dup ENSP00000514573.1:n.*425_*426dup
ENST00000699766.1:c.1329_1330dup ENSP00000514574.1:p.Arg444LysfsTer5
ENST00000699767.1:c.1329_1330dup ENSP00000514575.1:p.Arg444LysfsTer5
ENST00000699768.1:c.1329_1330dup ENSP00000514576.1:p.Arg444LysfsTer5
ENST00000699811.1:c.924_925dup ENSP00000514614.1:p.Arg309LysfsTer5
ENST00000699813.1:n.1442_1443dup
ENST00000699814.1:c.952_953dup
ENST00000699815.1:c.*860_*861dup ENSP00000514616.1:n.*860_*861dup
ENST00000699816.1:c.*219_*220dup ENSP00000514617.1:n.*219_*220dup
ENST00000699817.1:c.*923_*924dup ENSP00000514618.1:n.*923_*924dup
ENST00000699818.1:c.924_925dup ENSP00000514619.1:p.Arg309LysfsTer5
ENST00000699819.1:c.*486_*487dup ENSP00000514620.1:n.*486_*487dup
ENST00000699820.1:c.1144+2364_1144+2365dup ENSP00000514621.1:n.1144+2364_1144+2365dup
ENST00000699821.1:c.924_925dup ENSP00000514622.1:p.Arg309LysfsTer5
ENST00000699822.1:c.*781_*782dup ENSP00000514623.1:n.*781_*782dup
ENST00000699823.1:c.924_925dup ENSP00000514624.1:p.Arg309LysfsTer5
ENST00000699824.1:c.*832_*833dup ENSP00000514625.1:n.*832_*833dup
ENST00000699825.1:c.768_769dup ENSP00000514626.1:p.Arg257LysfsTer5
ENST00000699826.1:c.*728_*729dup ENSP00000514627.1:n.*728_*729dup
ENST00000699827.1:c.1161_1162dup ENSP00000514628.1:p.Arg388LysfsTer5
ENST00000699828.1:c.*419_*420dup ENSP00000514629.1:n.*419_*420dup
ENST00000699833.1:n.3101_3102dup
ENST00000699837.1:c.924_925dup ENSP00000514635.1:p.Arg309LysfsTer5
ENST00000699838.1:c.*1229_*1230dup ENSP00000514636.1:n.*1229_*1230dup
ENST00000699839.1:c.1515_1516dup ENSP00000514637.1:p.Arg506LysfsTer5
ENST00000699916.1:c.*586_*587dup ENSP00000514684.1:n.*586_*587dup
ENST00000699917.1:c.*778_*779dup ENSP00000514685.1:n.*778_*779dup
ENST00000699918.1:c.*830_*831dup ENSP00000514686.1:n.*830_*831dup
ENST00000699919.1:c.*916_*917dup ENSP00000514687.1:n.*916_*917dup
ENST00000699920.1:c.*965_*966dup ENSP00000514688.1:n.*965_*966dup
ENST00000699928.1:c.989-4445_989-4444dup ENSP00000514693.1:n.989-4445_989-4444dup
ENST00000699929.1:c.*630_*631dup ENSP00000514694.1:n.*630_*631dup
ENST00000699930.1:c.1221_1222dup ENSP00000514695.1:p.Arg408LysfsTer5
ENST00000699931.1:n.2757_2758dup
ENST00000699951.1:c.*425_*426dup ENSP00000514706.1:n.*425_*426dup
ENST00000699952.1:c.803+9890_803+9891dup ENSP00000514707.1:n.803+9890_803+9891dup
ENST00000699953.1:c.*436_*437dup ENSP00000514708.1:n.*436_*437dup
ENST00000699954.1:c.*630_*631dup ENSP00000514709.1:n.*630_*631dup
ENST00000265849.12:c.1329_1330dup MANE Select ENSP00000265849.7:p.Arg444LysfsTer5
ENST00000642292.1:c.924_925dup ENSP00000495524.1:p.Arg309LysfsTer5
ENST00000642456.1:c.924_925dup ENSP00000493814.1:p.Arg309LysfsTer5
ENST00000643595.1:c.*728_*729dup ENSP00000494497.1:n.*728_*729dup
ENST00000644110.1:c.1011_1012dup ENSP00000496392.1:p.Arg338LysfsTer5
ENST00000265849.11:c.1329_1330dup ENSP00000265849.7:p.Arg444LysfsTer5
ENST00000382321.5:c.804-4445_804-4444dup ENSP00000371758.4:n.804-4445_804-4444dup
ENST00000406569.7:n.1329_1330dup
ENST00000441476.6:c.1011_1012dup ENSP00000392843.2:p.Arg338LysfsTer5
ENST00000469652.1:n.63-4531_63-4530dup
NM_000535.5:c.1329_1330dup , LRG_161t1:c.1329_1330dup NP_000526.1:p.Arg444LysfsTer5
NR_003085.2:n.1411_1412dup
XM_006715742.2:c.1323_1324dup XP_006715805.1:p.Arg442LysfsTer5
XM_006715744.2:c.396_397dup XP_006715807.1:p.Arg133LysfsTer5
XM_011515427.1:c.1374_1375dup XP_011513729.1:p.Arg459LysfsTer5
XM_011515428.1:c.1218_1219dup XP_011513730.1:p.Arg407LysfsTer5
XM_011515429.1:c.1011_1012dup XP_011513731.1:p.Arg338LysfsTer5
XM_011515430.1:c.1011_1012dup XP_011513732.1:p.Arg338LysfsTer5
NM_000535.6:c.1329_1330dup NP_000526.2:p.Arg444LysfsTer5
NM_001322003.1:c.924_925dup NP_001308932.1:p.Arg309LysfsTer5
NM_001322004.1:c.924_925dup NP_001308933.1:p.Arg309LysfsTer5
NM_001322005.1:c.924_925dup NP_001308934.1:p.Arg309LysfsTer5
NM_001322006.1:c.1173_1174dup NP_001308935.1:p.Arg392LysfsTer5
NM_001322007.1:c.1011_1012dup NP_001308936.1:p.Arg338LysfsTer5
NM_001322008.1:c.1011_1012dup NP_001308937.1:p.Arg338LysfsTer5
NM_001322009.1:c.924_925dup NP_001308938.1:p.Arg309LysfsTer5
NM_001322010.1:c.768_769dup NP_001308939.1:p.Arg257LysfsTer5
NM_001322011.1:c.396_397dup NP_001308940.1:p.Arg133LysfsTer5
NM_001322012.1:c.396_397dup NP_001308941.1:p.Arg133LysfsTer5
NM_001322013.1:c.756_757dup NP_001308942.1:p.Arg253LysfsTer5
NM_001322014.1:c.1329_1330dup NP_001308943.1:p.Arg444LysfsTer5
NM_001322015.1:c.1020_1021dup NP_001308944.1:p.Arg341LysfsTer5
NR_136154.1:n.1416_1417dup
XM_006715744.4:c.396_397dup XP_006715807.1:p.Arg133LysfsTer5
XM_017012342.2:c.396_397dup XP_016867831.1:p.Arg133LysfsTer5
XM_024446800.1:c.768_769dup XP_024302568.1:p.Arg257LysfsTer5
NM_000535.7:c.1329_1330dup MANE Select NP_000526.2:p.Arg444LysfsTer5
NM_001322003.2:c.924_925dup NP_001308932.1:p.Arg309LysfsTer5
NM_001322004.2:c.924_925dup NP_001308933.1:p.Arg309LysfsTer5
NM_001322005.2:c.924_925dup NP_001308934.1:p.Arg309LysfsTer5
NM_001322006.2:c.1173_1174dup NP_001308935.1:p.Arg392LysfsTer5
NM_001322008.2:c.1011_1012dup NP_001308937.1:p.Arg338LysfsTer5
NM_001322009.2:c.924_925dup NP_001308938.1:p.Arg309LysfsTer5
NM_001322010.2:c.768_769dup NP_001308939.1:p.Arg257LysfsTer5
NM_001322011.2:c.396_397dup NP_001308940.1:p.Arg133LysfsTer5
NM_001322012.2:c.396_397dup NP_001308941.1:p.Arg133LysfsTer5
NM_001322013.2:c.756_757dup NP_001308942.1:p.Arg253LysfsTer5
NM_001322014.2:c.1329_1330dup NP_001308943.1:p.Arg444LysfsTer5
NM_001322015.2:c.1020_1021dup NP_001308944.1:p.Arg341LysfsTer5
NM_001322007.2:c.1011_1012dup NP_001308936.1:p.Arg338LysfsTer5