Canonical Allele Identifier: CA2580076833
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785994
ClinVar RCV Id: RCV002424306

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982893del , CM000669.2:g.5982893del GRCh38
NC_000007.13:g.6022524del , CM000669.1:g.6022524del GRCh37
NC_000007.12:g.5989050del NCBI36
NG_008466.1:g.31215del , LRG_161:g.31215del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1502del ENSP00000514615.2:n.*1502del
ENST00000699840.2:c.2103del ENSP00000514638.2:p.Thr702ArgfsTer22
ENST00000699930.2:c.1998del ENSP00000514695.2:p.Thr667ArgfsTer22
ENST00000406569.8:c.1678+4195del ENSP00000514464.1:n.1678+4195del
ENST00000644110.2:c.*1700del ENSP00000496392.2:n.*1700del
ENST00000699752.1:c.1950del ENSP00000514561.1:p.Thr651ArgfsTer22
ENST00000699753.1:c.*1527del ENSP00000514562.1:n.*1527del
ENST00000699754.1:c.1908del ENSP00000514563.1:p.Thr637ArgfsTer22
ENST00000699755.1:c.*1505del ENSP00000514564.1:n.*1505del
ENST00000699756.1:c.*1693del ENSP00000514565.1:n.*1693del
ENST00000699757.1:c.*1363del ENSP00000514566.1:n.*1363del
ENST00000699758.1:c.*1363del ENSP00000514567.1:n.*1363del
ENST00000699759.1:n.2960del
ENST00000699760.1:c.1788del ENSP00000514568.1:p.Thr597ArgfsTer22
ENST00000699761.1:c.1701del ENSP00000514569.1:p.Thr568ArgfsTer22
ENST00000699762.1:c.1533del ENSP00000514570.1:p.Thr512ArgfsTer22
ENST00000699763.1:c.*1196del ENSP00000514571.1:n.*1196del
ENST00000699764.1:c.*424del ENSP00000514572.1:n.*424del
ENST00000699765.1:c.*1202del ENSP00000514573.1:n.*1202del
ENST00000699766.1:c.2106del ENSP00000514574.1:p.Thr703ArgfsTer22
ENST00000699767.1:c.2106del ENSP00000514575.1:p.Thr703ArgfsTer22
ENST00000699768.1:c.2106del ENSP00000514576.1:p.Thr703ArgfsTer22
ENST00000699811.1:c.1701del ENSP00000514614.1:p.Thr568ArgfsTer22
ENST00000699813.1:n.2219del
ENST00000699814.1:c.1729del
ENST00000699815.1:c.*1637del ENSP00000514616.1:n.*1637del
ENST00000699816.1:c.*996del ENSP00000514617.1:n.*996del
ENST00000699817.1:c.*1700del ENSP00000514618.1:n.*1700del
ENST00000699818.1:c.1701del ENSP00000514619.1:p.Thr568ArgfsTer22
ENST00000699819.1:c.*1263del ENSP00000514620.1:n.*1263del
ENST00000699820.1:c.*44del ENSP00000514621.1:n.*44del
ENST00000699821.1:c.1701del ENSP00000514622.1:p.Thr568ArgfsTer22
ENST00000699822.1:c.*1558del ENSP00000514623.1:n.*1558del
ENST00000699823.1:c.1701del ENSP00000514624.1:p.Thr568ArgfsTer22
ENST00000699824.1:c.*1609del ENSP00000514625.1:n.*1609del
ENST00000699825.1:c.1545del ENSP00000514626.1:p.Thr516ArgfsTer22
ENST00000699826.1:c.*1505del ENSP00000514627.1:n.*1505del
ENST00000699827.1:c.1938del ENSP00000514628.1:p.Thr647ArgfsTer22
ENST00000699828.1:c.*1196del ENSP00000514629.1:n.*1196del
ENST00000699833.1:n.3878del
ENST00000699837.1:c.1701del ENSP00000514635.1:p.Thr568ArgfsTer22
ENST00000699838.1:c.*2006del ENSP00000514636.1:n.*2006del
ENST00000699839.1:c.2292del ENSP00000514637.1:p.Thr765ArgfsTer22
ENST00000699916.1:c.*1363del ENSP00000514684.1:n.*1363del
ENST00000699917.1:c.*1555del ENSP00000514685.1:n.*1555del
ENST00000699918.1:c.*1607del ENSP00000514686.1:n.*1607del
ENST00000699919.1:c.*1693del ENSP00000514687.1:n.*1693del
ENST00000699920.1:c.*1742del ENSP00000514688.1:n.*1742del
ENST00000699928.1:c.*44del ENSP00000514693.1:n.*44del
ENST00000699951.1:c.*1202del ENSP00000514706.1:n.*1202del
ENST00000699952.1:c.804-9350del ENSP00000514707.1:n.804-9350del
ENST00000265849.12:c.2106del MANE Select ENSP00000265849.7:p.Thr703ArgfsTer22
ENST00000642292.1:c.1701del ENSP00000495524.1:p.Thr568ArgfsTer22
ENST00000642456.1:c.1701del ENSP00000493814.1:p.Thr568ArgfsTer22
ENST00000643595.1:c.*1505del ENSP00000494497.1:n.*1505del
ENST00000644110.1:c.1788del ENSP00000496392.1:p.Thr597ArgfsTer22
ENST00000265849.11:c.2106del ENSP00000265849.7:p.Thr703ArgfsTer22
ENST00000382321.5:c.903del ENSP00000371758.4:p.Thr302ArgfsTer22
ENST00000406569.7:n.1678+4195del
ENST00000441476.6:c.1788del ENSP00000392843.2:p.Thr597ArgfsTer22
ENST00000469652.1:n.76del
NM_000535.5:c.2106del , LRG_161t1:c.2106del NP_000526.1:p.Thr703ArgfsTer22
NR_003085.2:n.2188del
XM_006715742.2:c.2100del XP_006715805.1:p.Thr701ArgfsTer22
XM_006715744.2:c.1173del XP_006715807.1:p.Thr392ArgfsTer22
XM_011515427.1:c.2151del XP_011513729.1:p.Thr718ArgfsTer22
XM_011515428.1:c.1995del XP_011513730.1:p.Thr666ArgfsTer22
XM_011515429.1:c.1788del XP_011513731.1:p.Thr597ArgfsTer22
XM_011515430.1:c.1788del XP_011513732.1:p.Thr597ArgfsTer22
NM_000535.6:c.2106del NP_000526.2:p.Thr703ArgfsTer22
NM_001322003.1:c.1701del NP_001308932.1:p.Thr568ArgfsTer22
NM_001322004.1:c.1701del NP_001308933.1:p.Thr568ArgfsTer22
NM_001322005.1:c.1701del NP_001308934.1:p.Thr568ArgfsTer22
NM_001322006.1:c.1950del NP_001308935.1:p.Thr651ArgfsTer22
NM_001322007.1:c.1788del NP_001308936.1:p.Thr597ArgfsTer22
NM_001322008.1:c.1788del NP_001308937.1:p.Thr597ArgfsTer22
NM_001322009.1:c.1701del NP_001308938.1:p.Thr568ArgfsTer22
NM_001322010.1:c.1545del NP_001308939.1:p.Thr516ArgfsTer22
NM_001322011.1:c.1173del NP_001308940.1:p.Thr392ArgfsTer22
NM_001322012.1:c.1173del NP_001308941.1:p.Thr392ArgfsTer22
NM_001322013.1:c.1533del NP_001308942.1:p.Thr512ArgfsTer22
NM_001322014.1:c.2106del NP_001308943.1:p.Thr703ArgfsTer22
NM_001322015.1:c.1797del NP_001308944.1:p.Thr600ArgfsTer22
NR_136154.1:n.2193del
XM_006715744.4:c.1173del XP_006715807.1:p.Thr392ArgfsTer22
XM_017012342.2:c.1173del XP_016867831.1:p.Thr392ArgfsTer22
XM_024446800.1:c.1545del XP_024302568.1:p.Thr516ArgfsTer22
NM_000535.7:c.2106del MANE Select NP_000526.2:p.Thr703ArgfsTer22
NM_001322003.2:c.1701del NP_001308932.1:p.Thr568ArgfsTer22
NM_001322004.2:c.1701del NP_001308933.1:p.Thr568ArgfsTer22
NM_001322005.2:c.1701del NP_001308934.1:p.Thr568ArgfsTer22
NM_001322006.2:c.1950del NP_001308935.1:p.Thr651ArgfsTer22
NM_001322008.2:c.1788del NP_001308937.1:p.Thr597ArgfsTer22
NM_001322009.2:c.1701del NP_001308938.1:p.Thr568ArgfsTer22
NM_001322010.2:c.1545del NP_001308939.1:p.Thr516ArgfsTer22
NM_001322011.2:c.1173del NP_001308940.1:p.Thr392ArgfsTer22
NM_001322012.2:c.1173del NP_001308941.1:p.Thr392ArgfsTer22
NM_001322013.2:c.1533del NP_001308942.1:p.Thr512ArgfsTer22
NM_001322014.2:c.2106del NP_001308943.1:p.Thr703ArgfsTer22
NM_001322015.2:c.1797del NP_001308944.1:p.Thr600ArgfsTer22
NM_001322007.2:c.1788del NP_001308936.1:p.Thr597ArgfsTer22