Canonical Allele Identifier: CA2580076868
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1781567
ClinVar RCV Id: RCV002414984

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986880_5986902del , CM000669.2:g.5986880_5986902del GRCh38
NC_000007.13:g.6026511_6026533del , CM000669.1:g.6026511_6026533del GRCh37
NC_000007.12:g.5993037_5993059del NCBI36
NG_008466.1:g.27207_27229del , LRG_161:g.27207_27229del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1261_*1283del ENSP00000514615.2:n.*1261_*1283del
ENST00000699840.2:c.1862_1884del ENSP00000514638.2:p.Met621LysfsTer6
ENST00000699930.2:c.1757_1779del ENSP00000514695.2:p.Met586LysfsTer6
ENST00000406569.8:c.1678+187_1678+209del ENSP00000514464.1:n.1678+187_1678+209del
ENST00000644110.2:c.*1459_*1481del ENSP00000496392.2:n.*1459_*1481del
ENST00000699752.1:c.1709_1731del ENSP00000514561.1:p.Met570LysfsTer6
ENST00000699753.1:c.*1286_*1308del ENSP00000514562.1:n.*1286_*1308del
ENST00000699754.1:c.1667_1689del ENSP00000514563.1:p.Met556LysfsTer6
ENST00000699755.1:c.*1264_*1286del ENSP00000514564.1:n.*1264_*1286del
ENST00000699756.1:c.*1452_*1474del ENSP00000514565.1:n.*1452_*1474del
ENST00000699757.1:c.*1122_*1144del ENSP00000514566.1:n.*1122_*1144del
ENST00000699758.1:c.*1122_*1144del ENSP00000514567.1:n.*1122_*1144del
ENST00000699759.1:n.2719_2741del
ENST00000699760.1:c.1547_1569del ENSP00000514568.1:p.Met516LysfsTer6
ENST00000699761.1:c.1460_1482del ENSP00000514569.1:p.Met487LysfsTer6
ENST00000699762.1:c.1292_1314del ENSP00000514570.1:p.Met431LysfsTer6
ENST00000699763.1:c.*955_*977del ENSP00000514571.1:n.*955_*977del
ENST00000699764.1:c.*183_*205del ENSP00000514572.1:n.*183_*205del
ENST00000699765.1:c.*961_*983del ENSP00000514573.1:n.*961_*983del
ENST00000699766.1:c.1865_1887del ENSP00000514574.1:p.Met622LysfsTer6
ENST00000699767.1:c.1865_1887del ENSP00000514575.1:p.Met622LysfsTer6
ENST00000699768.1:c.1865_1887del ENSP00000514576.1:p.Met622LysfsTer6
ENST00000699811.1:c.1460_1482del ENSP00000514614.1:p.Met487LysfsTer6
ENST00000699813.1:n.1978_2000del
ENST00000699814.1:c.1488_1510del
ENST00000699815.1:c.*1396_*1418del ENSP00000514616.1:n.*1396_*1418del
ENST00000699816.1:c.*755_*777del ENSP00000514617.1:n.*755_*777del
ENST00000699817.1:c.*1459_*1481del ENSP00000514618.1:n.*1459_*1481del
ENST00000699818.1:c.1460_1482del ENSP00000514619.1:p.Met487LysfsTer6
ENST00000699819.1:c.*1022_*1044del ENSP00000514620.1:n.*1022_*1044del
ENST00000699820.1:c.1144+2900_1144+2922del ENSP00000514621.1:n.1144+2900_1144+2922del
ENST00000699821.1:c.1460_1482del ENSP00000514622.1:p.Met487LysfsTer6
ENST00000699822.1:c.*1317_*1339del ENSP00000514623.1:n.*1317_*1339del
ENST00000699823.1:c.1460_1482del ENSP00000514624.1:p.Met487LysfsTer6
ENST00000699824.1:c.*1368_*1390del ENSP00000514625.1:n.*1368_*1390del
ENST00000699825.1:c.1304_1326del ENSP00000514626.1:p.Met435LysfsTer6
ENST00000699826.1:c.*1264_*1286del ENSP00000514627.1:n.*1264_*1286del
ENST00000699827.1:c.1697_1719del ENSP00000514628.1:p.Met566LysfsTer6
ENST00000699828.1:c.*955_*977del ENSP00000514629.1:n.*955_*977del
ENST00000699833.1:n.3637_3659del
ENST00000699837.1:c.1460_1482del ENSP00000514635.1:p.Met487LysfsTer6
ENST00000699838.1:c.*1765_*1787del ENSP00000514636.1:n.*1765_*1787del
ENST00000699839.1:c.2051_2073del ENSP00000514637.1:p.Met684LysfsTer6
ENST00000699916.1:c.*1122_*1144del ENSP00000514684.1:n.*1122_*1144del
ENST00000699917.1:c.*1314_*1336del ENSP00000514685.1:n.*1314_*1336del
ENST00000699918.1:c.*1366_*1388del ENSP00000514686.1:n.*1366_*1388del
ENST00000699919.1:c.*1452_*1474del ENSP00000514687.1:n.*1452_*1474del
ENST00000699920.1:c.*1501_*1523del ENSP00000514688.1:n.*1501_*1523del
ENST00000699928.1:c.989-3909_989-3887del ENSP00000514693.1:n.989-3909_989-3887del
ENST00000699951.1:c.*961_*983del ENSP00000514706.1:n.*961_*983del
ENST00000699952.1:c.803+10426_803+10448del ENSP00000514707.1:n.803+10426_803+10448del
ENST00000265849.12:c.1865_1887del MANE Select ENSP00000265849.7:p.Met622LysfsTer6
ENST00000642292.1:c.1460_1482del ENSP00000495524.1:p.Met487LysfsTer6
ENST00000642456.1:c.1460_1482del ENSP00000493814.1:p.Met487LysfsTer6
ENST00000643595.1:c.*1264_*1286del ENSP00000494497.1:n.*1264_*1286del
ENST00000644110.1:c.1547_1569del ENSP00000496392.1:p.Met516LysfsTer6
ENST00000265849.11:c.1865_1887del ENSP00000265849.7:p.Met622LysfsTer6
ENST00000382321.5:c.804-3909_804-3887del ENSP00000371758.4:n.804-3909_804-3887del
ENST00000406569.7:n.1678+187_1678+209del
ENST00000441476.6:c.1547_1569del ENSP00000392843.2:p.Met516LysfsTer6
ENST00000469652.1:n.63-3995_63-3973del
NM_000535.5:c.1865_1887del , LRG_161t1:c.1865_1887del NP_000526.1:p.Met622LysfsTer6
NR_003085.2:n.1947_1969del
XM_006715742.2:c.1859_1881del XP_006715805.1:p.Met620LysfsTer6
XM_006715744.2:c.932_954del XP_006715807.1:p.Met311LysfsTer6
XM_011515427.1:c.1910_1932del XP_011513729.1:p.Met637LysfsTer6
XM_011515428.1:c.1754_1776del XP_011513730.1:p.Met585LysfsTer6
XM_011515429.1:c.1547_1569del XP_011513731.1:p.Met516LysfsTer6
XM_011515430.1:c.1547_1569del XP_011513732.1:p.Met516LysfsTer6
NM_000535.6:c.1865_1887del NP_000526.2:p.Met622LysfsTer6
NM_001322003.1:c.1460_1482del NP_001308932.1:p.Met487LysfsTer6
NM_001322004.1:c.1460_1482del NP_001308933.1:p.Met487LysfsTer6
NM_001322005.1:c.1460_1482del NP_001308934.1:p.Met487LysfsTer6
NM_001322006.1:c.1709_1731del NP_001308935.1:p.Met570LysfsTer6
NM_001322007.1:c.1547_1569del NP_001308936.1:p.Met516LysfsTer6
NM_001322008.1:c.1547_1569del NP_001308937.1:p.Met516LysfsTer6
NM_001322009.1:c.1460_1482del NP_001308938.1:p.Met487LysfsTer6
NM_001322010.1:c.1304_1326del NP_001308939.1:p.Met435LysfsTer6
NM_001322011.1:c.932_954del NP_001308940.1:p.Met311LysfsTer6
NM_001322012.1:c.932_954del NP_001308941.1:p.Met311LysfsTer6
NM_001322013.1:c.1292_1314del NP_001308942.1:p.Met431LysfsTer6
NM_001322014.1:c.1865_1887del NP_001308943.1:p.Met622LysfsTer6
NM_001322015.1:c.1556_1578del NP_001308944.1:p.Met519LysfsTer6
NR_136154.1:n.1952_1974del
XM_006715744.4:c.932_954del XP_006715807.1:p.Met311LysfsTer6
XM_017012342.2:c.932_954del XP_016867831.1:p.Met311LysfsTer6
XM_024446800.1:c.1304_1326del XP_024302568.1:p.Met435LysfsTer6
NM_000535.7:c.1865_1887del MANE Select NP_000526.2:p.Met622LysfsTer6
NM_001322003.2:c.1460_1482del NP_001308932.1:p.Met487LysfsTer6
NM_001322004.2:c.1460_1482del NP_001308933.1:p.Met487LysfsTer6
NM_001322005.2:c.1460_1482del NP_001308934.1:p.Met487LysfsTer6
NM_001322006.2:c.1709_1731del NP_001308935.1:p.Met570LysfsTer6
NM_001322008.2:c.1547_1569del NP_001308937.1:p.Met516LysfsTer6
NM_001322009.2:c.1460_1482del NP_001308938.1:p.Met487LysfsTer6
NM_001322010.2:c.1304_1326del NP_001308939.1:p.Met435LysfsTer6
NM_001322011.2:c.932_954del NP_001308940.1:p.Met311LysfsTer6
NM_001322012.2:c.932_954del NP_001308941.1:p.Met311LysfsTer6
NM_001322013.2:c.1292_1314del NP_001308942.1:p.Met431LysfsTer6
NM_001322014.2:c.1865_1887del NP_001308943.1:p.Met622LysfsTer6
NM_001322015.2:c.1556_1578del NP_001308944.1:p.Met519LysfsTer6
NM_001322007.2:c.1547_1569del NP_001308936.1:p.Met516LysfsTer6