Canonical Allele Identifier: CA3038654475
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987042_5987043insGGGTGTGTT , CM000669.2:g.5987042_5987043insGGGTGTGTT GRCh38
NC_000007.13:g.6026673_6026674insGGGTGTGTT , CM000669.1:g.6026673_6026674insGGGTGTGTT GRCh37
NC_000007.12:g.5993199_5993200insGGGTGTGTT NCBI36
NG_008466.1:g.27070_27071insCCCAACACA , LRG_161:g.27070_27071insCCCAACACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1124_*1125insCCCAACACA ENSP00000514615.2:n.*1124_*1125insCCCAACACA
ENST00000699840.2:c.1725_1726insCCCAACACA ENSP00000514638.2:p.Thr575_Lys576insProAsnThr
ENST00000699930.2:c.1620_1621insCCCAACACA ENSP00000514695.2:p.Thr540_Lys541insProAsnThr
ENST00000406569.8:c.1678+50_1678+51insCCCAACACA ENSP00000514464.1:n.1678+50_1678+51insCCCAACACA
ENST00000644110.2:c.*1322_*1323insCCCAACACA ENSP00000496392.2:n.*1322_*1323insCCCAACACA
ENST00000699752.1:c.1572_1573insCCCAACACA ENSP00000514561.1:p.Thr524_Lys525insProAsnThr
ENST00000699753.1:c.*1149_*1150insCCCAACACA ENSP00000514562.1:n.*1149_*1150insCCCAACACA
ENST00000699754.1:c.1530_1531insCCCAACACA ENSP00000514563.1:p.Thr510_Lys511insProAsnThr
ENST00000699755.1:c.*1127_*1128insCCCAACACA ENSP00000514564.1:n.*1127_*1128insCCCAACACA
ENST00000699756.1:c.*1315_*1316insCCCAACACA ENSP00000514565.1:n.*1315_*1316insCCCAACACA
ENST00000699757.1:c.*985_*986insCCCAACACA ENSP00000514566.1:n.*985_*986insCCCAACACA
ENST00000699758.1:c.*985_*986insCCCAACACA ENSP00000514567.1:n.*985_*986insCCCAACACA
ENST00000699759.1:n.2582_2583insCCCAACACA
ENST00000699760.1:c.1410_1411insCCCAACACA ENSP00000514568.1:p.Thr470_Lys471insProAsnThr
ENST00000699761.1:c.1323_1324insCCCAACACA ENSP00000514569.1:p.Thr441_Lys442insProAsnThr
ENST00000699762.1:c.1155_1156insCCCAACACA ENSP00000514570.1:p.Thr385_Lys386insProAsnThr
ENST00000699763.1:c.*818_*819insCCCAACACA ENSP00000514571.1:n.*818_*819insCCCAACACA
ENST00000699764.1:c.*46_*47insCCCAACACA ENSP00000514572.1:n.*46_*47insCCCAACACA
ENST00000699765.1:c.*824_*825insCCCAACACA ENSP00000514573.1:n.*824_*825insCCCAACACA
ENST00000699766.1:c.1728_1729insCCCAACACA ENSP00000514574.1:p.Thr576_Lys577insProAsnThr
ENST00000699767.1:c.1728_1729insCCCAACACA ENSP00000514575.1:p.Thr576_Lys577insProAsnThr
ENST00000699768.1:c.1728_1729insCCCAACACA ENSP00000514576.1:p.Thr576_Lys577insProAsnThr
ENST00000699811.1:c.1323_1324insCCCAACACA ENSP00000514614.1:p.Thr441_Lys442insProAsnThr
ENST00000699813.1:n.1841_1842insCCCAACACA
ENST00000699814.1:c.1351_1352insCCCAACACA
ENST00000699815.1:c.*1259_*1260insCCCAACACA ENSP00000514616.1:n.*1259_*1260insCCCAACACA
ENST00000699816.1:c.*618_*619insCCCAACACA ENSP00000514617.1:n.*618_*619insCCCAACACA
ENST00000699817.1:c.*1322_*1323insCCCAACACA ENSP00000514618.1:n.*1322_*1323insCCCAACACA
ENST00000699818.1:c.1323_1324insCCCAACACA ENSP00000514619.1:p.Thr441_Lys442insProAsnThr
ENST00000699819.1:c.*885_*886insCCCAACACA ENSP00000514620.1:n.*885_*886insCCCAACACA
ENST00000699820.1:c.1144+2763_1144+2764insCCCAACACA ENSP00000514621.1:n.1144+2763_1144+2764insCCCAACACA
ENST00000699821.1:c.1323_1324insCCCAACACA ENSP00000514622.1:p.Thr441_Lys442insProAsnThr
ENST00000699822.1:c.*1180_*1181insCCCAACACA ENSP00000514623.1:n.*1180_*1181insCCCAACACA
ENST00000699823.1:c.1323_1324insCCCAACACA ENSP00000514624.1:p.Thr441_Lys442insProAsnThr
ENST00000699824.1:c.*1231_*1232insCCCAACACA ENSP00000514625.1:n.*1231_*1232insCCCAACACA
ENST00000699825.1:c.1167_1168insCCCAACACA ENSP00000514626.1:p.Thr389_Lys390insProAsnThr
ENST00000699826.1:c.*1127_*1128insCCCAACACA ENSP00000514627.1:n.*1127_*1128insCCCAACACA
ENST00000699827.1:c.1560_1561insCCCAACACA ENSP00000514628.1:p.Thr520_Lys521insProAsnThr
ENST00000699828.1:c.*818_*819insCCCAACACA ENSP00000514629.1:n.*818_*819insCCCAACACA
ENST00000699833.1:n.3500_3501insCCCAACACA
ENST00000699837.1:c.1323_1324insCCCAACACA ENSP00000514635.1:p.Thr441_Lys442insProAsnThr
ENST00000699838.1:c.*1628_*1629insCCCAACACA ENSP00000514636.1:n.*1628_*1629insCCCAACACA
ENST00000699839.1:c.1914_1915insCCCAACACA ENSP00000514637.1:p.Thr638_Lys639insProAsnThr
ENST00000699916.1:c.*985_*986insCCCAACACA ENSP00000514684.1:n.*985_*986insCCCAACACA
ENST00000699917.1:c.*1177_*1178insCCCAACACA ENSP00000514685.1:n.*1177_*1178insCCCAACACA
ENST00000699918.1:c.*1229_*1230insCCCAACACA ENSP00000514686.1:n.*1229_*1230insCCCAACACA
ENST00000699919.1:c.*1315_*1316insCCCAACACA ENSP00000514687.1:n.*1315_*1316insCCCAACACA
ENST00000699920.1:c.*1364_*1365insCCCAACACA ENSP00000514688.1:n.*1364_*1365insCCCAACACA
ENST00000699928.1:c.989-4046_989-4045insCCCAACACA ENSP00000514693.1:n.989-4046_989-4045insCCCAACACA
ENST00000699929.1:c.*1029_*1030insCCCAACACA ENSP00000514694.1:n.*1029_*1030insCCCAACACA
ENST00000699930.1:c.1620_1621insCCCAACACA ENSP00000514695.1:p.Thr540_Lys541insProAsnThr
ENST00000699931.1:n.3156_3157insCCCAACACA
ENST00000699951.1:c.*824_*825insCCCAACACA ENSP00000514706.1:n.*824_*825insCCCAACACA
ENST00000699952.1:c.803+10289_803+10290insCCCAACACA ENSP00000514707.1:n.803+10289_803+10290insCCCAACACA
ENST00000699953.1:c.*835_*836insCCCAACACA ENSP00000514708.1:n.*835_*836insCCCAACACA
ENST00000699954.1:c.*1029_*1030insCCCAACACA ENSP00000514709.1:n.*1029_*1030insCCCAACACA
ENST00000265849.12:c.1728_1729insCCCAACACA MANE Select ENSP00000265849.7:p.Thr576_Lys577insProAsnThr
ENST00000642292.1:c.1323_1324insCCCAACACA ENSP00000495524.1:p.Thr441_Lys442insProAsnThr
ENST00000642456.1:c.1323_1324insCCCAACACA ENSP00000493814.1:p.Thr441_Lys442insProAsnThr
ENST00000643595.1:c.*1127_*1128insCCCAACACA ENSP00000494497.1:n.*1127_*1128insCCCAACACA
ENST00000644110.1:c.1410_1411insCCCAACACA ENSP00000496392.1:p.Thr470_Lys471insProAsnThr
ENST00000265849.11:c.1728_1729insCCCAACACA ENSP00000265849.7:p.Thr576_Lys577insProAsnThr
ENST00000382321.5:c.804-4046_804-4045insCCCAACACA ENSP00000371758.4:n.804-4046_804-4045insCCCAACACA
ENST00000406569.7:n.1678+50_1678+51insCCCAACACA
ENST00000441476.6:c.1410_1411insCCCAACACA ENSP00000392843.2:p.Thr470_Lys471insProAsnThr
ENST00000469652.1:n.63-4132_63-4131insCCCAACACA
NM_000535.5:c.1728_1729insCCCAACACA , LRG_161t1:c.1728_1729insCCCAACACA NP_000526.1:p.Thr576_Lys577insProAsnThr
NR_003085.2:n.1810_1811insCCCAACACA
XM_006715742.2:c.1722_1723insCCCAACACA XP_006715805.1:p.Thr574_Lys575insProAsnThr
XM_006715744.2:c.795_796insCCCAACACA XP_006715807.1:p.Thr265_Lys266insProAsnThr
XM_011515427.1:c.1773_1774insCCCAACACA XP_011513729.1:p.Thr591_Lys592insProAsnThr
XM_011515428.1:c.1617_1618insCCCAACACA XP_011513730.1:p.Thr539_Lys540insProAsnThr
XM_011515429.1:c.1410_1411insCCCAACACA XP_011513731.1:p.Thr470_Lys471insProAsnThr
XM_011515430.1:c.1410_1411insCCCAACACA XP_011513732.1:p.Thr470_Lys471insProAsnThr
NM_000535.6:c.1728_1729insCCCAACACA NP_000526.2:p.Thr576_Lys577insProAsnThr
NM_001322003.1:c.1323_1324insCCCAACACA NP_001308932.1:p.Thr441_Lys442insProAsnThr
NM_001322004.1:c.1323_1324insCCCAACACA NP_001308933.1:p.Thr441_Lys442insProAsnThr
NM_001322005.1:c.1323_1324insCCCAACACA NP_001308934.1:p.Thr441_Lys442insProAsnThr
NM_001322006.1:c.1572_1573insCCCAACACA NP_001308935.1:p.Thr524_Lys525insProAsnThr
NM_001322007.1:c.1410_1411insCCCAACACA NP_001308936.1:p.Thr470_Lys471insProAsnThr
NM_001322008.1:c.1410_1411insCCCAACACA NP_001308937.1:p.Thr470_Lys471insProAsnThr
NM_001322009.1:c.1323_1324insCCCAACACA NP_001308938.1:p.Thr441_Lys442insProAsnThr
NM_001322010.1:c.1167_1168insCCCAACACA NP_001308939.1:p.Thr389_Lys390insProAsnThr
NM_001322011.1:c.795_796insCCCAACACA NP_001308940.1:p.Thr265_Lys266insProAsnThr
NM_001322012.1:c.795_796insCCCAACACA NP_001308941.1:p.Thr265_Lys266insProAsnThr
NM_001322013.1:c.1155_1156insCCCAACACA NP_001308942.1:p.Thr385_Lys386insProAsnThr
NM_001322014.1:c.1728_1729insCCCAACACA NP_001308943.1:p.Thr576_Lys577insProAsnThr
NM_001322015.1:c.1419_1420insCCCAACACA NP_001308944.1:p.Thr473_Lys474insProAsnThr
NR_136154.1:n.1815_1816insCCCAACACA
XM_006715744.4:c.795_796insCCCAACACA XP_006715807.1:p.Thr265_Lys266insProAsnThr
XM_017012342.2:c.795_796insCCCAACACA XP_016867831.1:p.Thr265_Lys266insProAsnThr
XM_024446800.1:c.1167_1168insCCCAACACA XP_024302568.1:p.Thr389_Lys390insProAsnThr
NM_000535.7:c.1728_1729insCCCAACACA MANE Select NP_000526.2:p.Thr576_Lys577insProAsnThr
NM_001322003.2:c.1323_1324insCCCAACACA NP_001308932.1:p.Thr441_Lys442insProAsnThr
NM_001322004.2:c.1323_1324insCCCAACACA NP_001308933.1:p.Thr441_Lys442insProAsnThr
NM_001322005.2:c.1323_1324insCCCAACACA NP_001308934.1:p.Thr441_Lys442insProAsnThr
NM_001322006.2:c.1572_1573insCCCAACACA NP_001308935.1:p.Thr524_Lys525insProAsnThr
NM_001322008.2:c.1410_1411insCCCAACACA NP_001308937.1:p.Thr470_Lys471insProAsnThr
NM_001322009.2:c.1323_1324insCCCAACACA NP_001308938.1:p.Thr441_Lys442insProAsnThr
NM_001322010.2:c.1167_1168insCCCAACACA NP_001308939.1:p.Thr389_Lys390insProAsnThr
NM_001322011.2:c.795_796insCCCAACACA NP_001308940.1:p.Thr265_Lys266insProAsnThr
NM_001322012.2:c.795_796insCCCAACACA NP_001308941.1:p.Thr265_Lys266insProAsnThr
NM_001322013.2:c.1155_1156insCCCAACACA NP_001308942.1:p.Thr385_Lys386insProAsnThr
NM_001322014.2:c.1728_1729insCCCAACACA NP_001308943.1:p.Thr576_Lys577insProAsnThr
NM_001322015.2:c.1419_1420insCCCAACACA NP_001308944.1:p.Thr473_Lys474insProAsnThr
NM_001322007.2:c.1410_1411insCCCAACACA NP_001308936.1:p.Thr470_Lys471insProAsnThr