Canonical Allele Identifier: CA2695198406
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674243
ClinVar RCV Id: RCV003452439

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982949del , CM000669.2:g.5982949del GRCh38
NC_000007.13:g.6022580del , CM000669.1:g.6022580del GRCh37
NC_000007.12:g.5989106del NCBI36
NG_008466.1:g.31159del , LRG_161:g.31159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1446del ENSP00000514615.2:n.*1446del
ENST00000699840.2:c.2047del ENSP00000514638.2:p.Leu683TrpfsTer4
ENST00000699930.2:c.1942del ENSP00000514695.2:p.Leu648TrpfsTer4
ENST00000406569.8:c.1678+4139del ENSP00000514464.1:n.1678+4139del
ENST00000644110.2:c.*1644del ENSP00000496392.2:n.*1644del
ENST00000699752.1:c.1894del ENSP00000514561.1:p.Leu632TrpfsTer4
ENST00000699753.1:c.*1471del ENSP00000514562.1:n.*1471del
ENST00000699754.1:c.1852del ENSP00000514563.1:p.Leu618TrpfsTer4
ENST00000699755.1:c.*1449del ENSP00000514564.1:n.*1449del
ENST00000699756.1:c.*1637del ENSP00000514565.1:n.*1637del
ENST00000699757.1:c.*1307del ENSP00000514566.1:n.*1307del
ENST00000699758.1:c.*1307del ENSP00000514567.1:n.*1307del
ENST00000699759.1:n.2904del
ENST00000699760.1:c.1732del ENSP00000514568.1:p.Leu578TrpfsTer4
ENST00000699761.1:c.1645del ENSP00000514569.1:p.Leu549TrpfsTer4
ENST00000699762.1:c.1477del ENSP00000514570.1:p.Leu493TrpfsTer4
ENST00000699763.1:c.*1140del ENSP00000514571.1:n.*1140del
ENST00000699764.1:c.*368del ENSP00000514572.1:n.*368del
ENST00000699765.1:c.*1146del ENSP00000514573.1:n.*1146del
ENST00000699766.1:c.2050del ENSP00000514574.1:p.Leu684TrpfsTer4
ENST00000699767.1:c.2050del ENSP00000514575.1:p.Leu684TrpfsTer4
ENST00000699768.1:c.2050del ENSP00000514576.1:p.Leu684TrpfsTer4
ENST00000699811.1:c.1645del ENSP00000514614.1:p.Leu549TrpfsTer4
ENST00000699813.1:n.2163del
ENST00000699814.1:c.1673del
ENST00000699815.1:c.*1581del ENSP00000514616.1:n.*1581del
ENST00000699816.1:c.*940del ENSP00000514617.1:n.*940del
ENST00000699817.1:c.*1644del ENSP00000514618.1:n.*1644del
ENST00000699818.1:c.1645del ENSP00000514619.1:p.Leu549TrpfsTer4
ENST00000699819.1:c.*1207del ENSP00000514620.1:n.*1207del
ENST00000699820.1:c.1188del ENSP00000514621.1:p.Trp397GlyfsTer9
ENST00000699821.1:c.1645del ENSP00000514622.1:p.Leu549TrpfsTer4
ENST00000699822.1:c.*1502del ENSP00000514623.1:n.*1502del
ENST00000699823.1:c.1645del ENSP00000514624.1:p.Leu549TrpfsTer4
ENST00000699824.1:c.*1553del ENSP00000514625.1:n.*1553del
ENST00000699825.1:c.1489del ENSP00000514626.1:p.Leu497TrpfsTer4
ENST00000699826.1:c.*1449del ENSP00000514627.1:n.*1449del
ENST00000699827.1:c.1882del ENSP00000514628.1:p.Leu628TrpfsTer4
ENST00000699828.1:c.*1140del ENSP00000514629.1:n.*1140del
ENST00000699833.1:n.3822del
ENST00000699837.1:c.1645del ENSP00000514635.1:p.Leu549TrpfsTer4
ENST00000699838.1:c.*1950del ENSP00000514636.1:n.*1950del
ENST00000699839.1:c.2236del ENSP00000514637.1:p.Leu746TrpfsTer4
ENST00000699916.1:c.*1307del ENSP00000514684.1:n.*1307del
ENST00000699917.1:c.*1499del ENSP00000514685.1:n.*1499del
ENST00000699918.1:c.*1551del ENSP00000514686.1:n.*1551del
ENST00000699919.1:c.*1637del ENSP00000514687.1:n.*1637del
ENST00000699920.1:c.*1686del ENSP00000514688.1:n.*1686del
ENST00000699928.1:c.1032del ENSP00000514693.1:p.Trp345GlyfsTer9
ENST00000699951.1:c.*1146del ENSP00000514706.1:n.*1146del
ENST00000699952.1:c.804-9406del ENSP00000514707.1:n.804-9406del
ENST00000265849.12:c.2050del MANE Select ENSP00000265849.7:p.Leu684TrpfsTer4
ENST00000642292.1:c.1645del ENSP00000495524.1:p.Leu549TrpfsTer4
ENST00000642456.1:c.1645del ENSP00000493814.1:p.Leu549TrpfsTer4
ENST00000643595.1:c.*1449del ENSP00000494497.1:n.*1449del
ENST00000644110.1:c.1732del ENSP00000496392.1:p.Leu578TrpfsTer4
ENST00000265849.11:c.2050del ENSP00000265849.7:p.Leu684TrpfsTer4
ENST00000382321.5:c.847del ENSP00000371758.4:p.Leu283TrpfsTer4
ENST00000406569.7:n.1678+4139del
ENST00000441476.6:c.1732del ENSP00000392843.2:p.Leu578TrpfsTer4
ENST00000469652.1:n.63-43del
NM_000535.5:c.2050del , LRG_161t1:c.2050del NP_000526.1:p.Leu684TrpfsTer4
NR_003085.2:n.2132del
XM_006715742.2:c.2044del XP_006715805.1:p.Leu682TrpfsTer4
XM_006715744.2:c.1117del XP_006715807.1:p.Leu373TrpfsTer4
XM_011515427.1:c.2095del XP_011513729.1:p.Leu699TrpfsTer4
XM_011515428.1:c.1939del XP_011513730.1:p.Leu647TrpfsTer4
XM_011515429.1:c.1732del XP_011513731.1:p.Leu578TrpfsTer4
XM_011515430.1:c.1732del XP_011513732.1:p.Leu578TrpfsTer4
NM_000535.6:c.2050del NP_000526.2:p.Leu684TrpfsTer4
NM_001322003.1:c.1645del NP_001308932.1:p.Leu549TrpfsTer4
NM_001322004.1:c.1645del NP_001308933.1:p.Leu549TrpfsTer4
NM_001322005.1:c.1645del NP_001308934.1:p.Leu549TrpfsTer4
NM_001322006.1:c.1894del NP_001308935.1:p.Leu632TrpfsTer4
NM_001322007.1:c.1732del NP_001308936.1:p.Leu578TrpfsTer4
NM_001322008.1:c.1732del NP_001308937.1:p.Leu578TrpfsTer4
NM_001322009.1:c.1645del NP_001308938.1:p.Leu549TrpfsTer4
NM_001322010.1:c.1489del NP_001308939.1:p.Leu497TrpfsTer4
NM_001322011.1:c.1117del NP_001308940.1:p.Leu373TrpfsTer4
NM_001322012.1:c.1117del NP_001308941.1:p.Leu373TrpfsTer4
NM_001322013.1:c.1477del NP_001308942.1:p.Leu493TrpfsTer4
NM_001322014.1:c.2050del NP_001308943.1:p.Leu684TrpfsTer4
NM_001322015.1:c.1741del NP_001308944.1:p.Leu581TrpfsTer4
NR_136154.1:n.2137del
XM_006715744.4:c.1117del XP_006715807.1:p.Leu373TrpfsTer4
XM_017012342.2:c.1117del XP_016867831.1:p.Leu373TrpfsTer4
XM_024446800.1:c.1489del XP_024302568.1:p.Leu497TrpfsTer4
NM_000535.7:c.2050del MANE Select NP_000526.2:p.Leu684TrpfsTer4
NM_001322003.2:c.1645del NP_001308932.1:p.Leu549TrpfsTer4
NM_001322004.2:c.1645del NP_001308933.1:p.Leu549TrpfsTer4
NM_001322005.2:c.1645del NP_001308934.1:p.Leu549TrpfsTer4
NM_001322006.2:c.1894del NP_001308935.1:p.Leu632TrpfsTer4
NM_001322008.2:c.1732del NP_001308937.1:p.Leu578TrpfsTer4
NM_001322009.2:c.1645del NP_001308938.1:p.Leu549TrpfsTer4
NM_001322010.2:c.1489del NP_001308939.1:p.Leu497TrpfsTer4
NM_001322011.2:c.1117del NP_001308940.1:p.Leu373TrpfsTer4
NM_001322012.2:c.1117del NP_001308941.1:p.Leu373TrpfsTer4
NM_001322013.2:c.1477del NP_001308942.1:p.Leu493TrpfsTer4
NM_001322014.2:c.2050del NP_001308943.1:p.Leu684TrpfsTer4
NM_001322015.2:c.1741del NP_001308944.1:p.Leu581TrpfsTer4
NM_001322007.2:c.1732del NP_001308936.1:p.Leu578TrpfsTer4