Canonical Allele Identifier: CA2697553818
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2774120
ClinVar RCV Id: RCV003585726

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5977614del , CM000669.2:g.5977614del GRCh38
NC_000007.13:g.6017245del , CM000669.1:g.6017245del GRCh37
NC_000007.12:g.5983771del NCBI36
NG_008466.1:g.36495del , LRG_161:g.36495del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1817del ENSP00000514615.2:n.*1817del
ENST00000699840.2:c.2418del ENSP00000514638.2:p.Phe806LeufsTer10
ENST00000699930.2:c.2313del ENSP00000514695.2:p.Phe771LeufsTer10
ENST00000406569.8:c.1781del ENSP00000514464.1:n.1781del
ENST00000644110.2:c.*2015del ENSP00000496392.2:n.*2015del
ENST00000699752.1:c.2265del ENSP00000514561.1:p.Phe755LeufsTer10
ENST00000699753.1:c.*1842del ENSP00000514562.1:n.*1842del
ENST00000699754.1:c.2223del ENSP00000514563.1:p.Phe741LeufsTer10
ENST00000699755.1:c.*1820del ENSP00000514564.1:n.*1820del
ENST00000699756.1:c.*2008del ENSP00000514565.1:n.*2008del
ENST00000699757.1:c.*1678del ENSP00000514566.1:n.*1678del
ENST00000699758.1:c.*1678del ENSP00000514567.1:n.*1678del
ENST00000699759.1:n.3275del
ENST00000699760.1:c.2103del ENSP00000514568.1:p.Phe701LeufsTer10
ENST00000699761.1:c.2016del ENSP00000514569.1:p.Phe672LeufsTer10
ENST00000699762.1:c.1848del ENSP00000514570.1:p.Phe616LeufsTer10
ENST00000699763.1:c.*1511del ENSP00000514571.1:n.*1511del
ENST00000699764.1:c.*739del ENSP00000514572.1:n.*739del
ENST00000699765.1:c.*1416del ENSP00000514573.1:n.*1416del
ENST00000699766.1:c.2454del ENSP00000514574.1:p.Phe818LeufsTer10
ENST00000699767.1:c.*62del ENSP00000514575.1:n.*62del
ENST00000699768.1:c.2277del ENSP00000514576.1:p.Phe759LeufsTer10
ENST00000699811.1:c.2016del ENSP00000514614.1:p.Phe672LeufsTer10
ENST00000699813.1:n.2534del
ENST00000699814.1:c.2044del
ENST00000699815.1:c.*1952del ENSP00000514616.1:n.*1952del
ENST00000699816.1:c.*1311del ENSP00000514617.1:n.*1311del
ENST00000699817.1:c.*2015del ENSP00000514618.1:n.*2015del
ENST00000699818.1:c.2016del ENSP00000514619.1:p.Phe672LeufsTer10
ENST00000699819.1:c.*1578del ENSP00000514620.1:n.*1578del
ENST00000699820.1:c.*359del ENSP00000514621.1:n.*359del
ENST00000699821.1:c.2049del ENSP00000514622.1:p.Phe683LeufsTer10
ENST00000699822.1:c.*1873del ENSP00000514623.1:n.*1873del
ENST00000699823.1:c.2016del ENSP00000514624.1:p.Phe672LeufsTer10
ENST00000699824.1:c.*1924del ENSP00000514625.1:n.*1924del
ENST00000699825.1:c.1860del ENSP00000514626.1:p.Phe620LeufsTer10
ENST00000699826.1:c.*1820del ENSP00000514627.1:n.*1820del
ENST00000699827.1:c.2253del ENSP00000514628.1:p.Phe751LeufsTer10
ENST00000699828.1:c.*1511del ENSP00000514629.1:n.*1511del
ENST00000699833.1:n.4193del
ENST00000699837.1:c.2016del ENSP00000514635.1:p.Phe672LeufsTer10
ENST00000699838.1:c.*2321del ENSP00000514636.1:n.*2321del
ENST00000699839.1:c.2607del ENSP00000514637.1:p.Phe869LeufsTer10
ENST00000699916.1:c.*1678del ENSP00000514684.1:n.*1678del
ENST00000699917.1:c.*1870del ENSP00000514685.1:n.*1870del
ENST00000699918.1:c.*1922del ENSP00000514686.1:n.*1922del
ENST00000699919.1:c.*2008del ENSP00000514687.1:n.*2008del
ENST00000699920.1:c.*2057del ENSP00000514688.1:n.*2057del
ENST00000699928.1:c.*359del ENSP00000514693.1:n.*359del
ENST00000699951.1:c.*1474del ENSP00000514706.1:n.*1474del
ENST00000699952.1:c.804-4070del ENSP00000514707.1:n.804-4070del
ENST00000265849.12:c.2421del MANE Select ENSP00000265849.7:p.Phe807LeufsTer10
ENST00000642292.1:c.2016del ENSP00000495524.1:p.Phe672LeufsTer10
ENST00000642456.1:c.2016del ENSP00000493814.1:p.Phe672LeufsTer10
ENST00000643595.1:c.*1820del ENSP00000494497.1:n.*1820del
ENST00000644110.1:c.2103del ENSP00000496392.1:p.Phe701LeufsTer10
ENST00000265849.11:c.2421del ENSP00000265849.7:p.Phe807LeufsTer10
ENST00000382321.5:c.1218del ENSP00000371758.4:p.Phe406LeufsTer10
ENST00000441476.6:c.2103del ENSP00000392843.2:p.Phe701LeufsTer10
NM_000535.5:c.2421del , LRG_161t1:c.2421del NP_000526.1:p.Phe807LeufsTer10
NR_003085.2:n.2503del
XM_006715742.2:c.2415del XP_006715805.1:p.Phe805LeufsTer10
XM_006715744.2:c.1488del XP_006715807.1:p.Phe496LeufsTer10
XM_011515427.1:c.2466del XP_011513729.1:p.Phe822LeufsTer10
XM_011515428.1:c.2310del XP_011513730.1:p.Phe770LeufsTer10
XM_011515429.1:c.2103del XP_011513731.1:p.Phe701LeufsTer10
XM_011515430.1:c.2103del XP_011513732.1:p.Phe701LeufsTer10
NM_000535.6:c.2421del NP_000526.2:p.Phe807LeufsTer10
NM_001322003.1:c.2016del NP_001308932.1:p.Phe672LeufsTer10
NM_001322004.1:c.2016del NP_001308933.1:p.Phe672LeufsTer10
NM_001322005.1:c.2016del NP_001308934.1:p.Phe672LeufsTer10
NM_001322006.1:c.2265del NP_001308935.1:p.Phe755LeufsTer10
NM_001322007.1:c.2103del NP_001308936.1:p.Phe701LeufsTer10
NM_001322008.1:c.2103del NP_001308937.1:p.Phe701LeufsTer10
NM_001322009.1:c.2049del NP_001308938.1:p.Phe683LeufsTer10
NM_001322010.1:c.1860del NP_001308939.1:p.Phe620LeufsTer10
NM_001322011.1:c.1488del NP_001308940.1:p.Phe496LeufsTer10
NM_001322012.1:c.1488del NP_001308941.1:p.Phe496LeufsTer10
NM_001322013.1:c.1848del NP_001308942.1:p.Phe616LeufsTer10
NM_001322014.1:c.2454del NP_001308943.1:p.Phe818LeufsTer10
NM_001322015.1:c.2112del NP_001308944.1:p.Phe704LeufsTer10
NR_136154.1:n.2465del
XM_006715744.4:c.1488del XP_006715807.1:p.Phe496LeufsTer10
XM_017012342.2:c.1488del XP_016867831.1:p.Phe496LeufsTer10
XM_024446800.1:c.1860del XP_024302568.1:p.Phe620LeufsTer10
NM_000535.7:c.2421del MANE Select NP_000526.2:p.Phe807LeufsTer10
NM_001322003.2:c.2016del NP_001308932.1:p.Phe672LeufsTer10
NM_001322004.2:c.2016del NP_001308933.1:p.Phe672LeufsTer10
NM_001322005.2:c.2016del NP_001308934.1:p.Phe672LeufsTer10
NM_001322006.2:c.2265del NP_001308935.1:p.Phe755LeufsTer10
NM_001322008.2:c.2103del NP_001308937.1:p.Phe701LeufsTer10
NM_001322009.2:c.2049del NP_001308938.1:p.Phe683LeufsTer10
NM_001322010.2:c.1860del NP_001308939.1:p.Phe620LeufsTer10
NM_001322011.2:c.1488del NP_001308940.1:p.Phe496LeufsTer10
NM_001322012.2:c.1488del NP_001308941.1:p.Phe496LeufsTer10
NM_001322013.2:c.1848del NP_001308942.1:p.Phe616LeufsTer10
NM_001322014.2:c.2454del NP_001308943.1:p.Phe818LeufsTer10
NM_001322015.2:c.2112del NP_001308944.1:p.Phe704LeufsTer10
NM_001322007.2:c.2103del NP_001308936.1:p.Phe701LeufsTer10