Canonical Allele Identifier: CA2713826861
Gene: PMS2 HGNC NCBI

Linked Data

dbSNP Id: rs2128704564

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982970del , CM000669.2:g.5982970del GRCh38
NC_000007.13:g.6022601del , CM000669.1:g.6022601del GRCh37
NC_000007.12:g.5989127del NCBI36
NG_008466.1:g.31138del , LRG_161:g.31138del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1425del ENSP00000514615.2:n.*1425del
ENST00000699840.2:c.2026del ENSP00000514638.2:p.Glu676LysfsTer11
ENST00000699930.2:c.1921del ENSP00000514695.2:p.Glu641LysfsTer11
ENST00000406569.8:c.1678+4118del ENSP00000514464.1:n.1678+4118del
ENST00000644110.2:c.*1623del ENSP00000496392.2:n.*1623del
ENST00000699752.1:c.1873del ENSP00000514561.1:p.Glu625LysfsTer11
ENST00000699753.1:c.*1450del ENSP00000514562.1:n.*1450del
ENST00000699754.1:c.1831del ENSP00000514563.1:p.Glu611LysfsTer11
ENST00000699755.1:c.*1428del ENSP00000514564.1:n.*1428del
ENST00000699756.1:c.*1616del ENSP00000514565.1:n.*1616del
ENST00000699757.1:c.*1286del ENSP00000514566.1:n.*1286del
ENST00000699758.1:c.*1286del ENSP00000514567.1:n.*1286del
ENST00000699759.1:n.2883del
ENST00000699760.1:c.1711del ENSP00000514568.1:p.Glu571LysfsTer11
ENST00000699761.1:c.1624del ENSP00000514569.1:p.Glu542LysfsTer11
ENST00000699762.1:c.1456del ENSP00000514570.1:p.Glu486LysfsTer11
ENST00000699763.1:c.*1119del ENSP00000514571.1:n.*1119del
ENST00000699764.1:c.*347del ENSP00000514572.1:n.*347del
ENST00000699765.1:c.*1125del ENSP00000514573.1:n.*1125del
ENST00000699766.1:c.2029del ENSP00000514574.1:p.Glu677LysfsTer11
ENST00000699767.1:c.2029del ENSP00000514575.1:p.Glu677LysfsTer11
ENST00000699768.1:c.2029del ENSP00000514576.1:p.Glu677LysfsTer11
ENST00000699811.1:c.1624del ENSP00000514614.1:p.Glu542LysfsTer11
ENST00000699813.1:n.2142del
ENST00000699814.1:c.1652del
ENST00000699815.1:c.*1560del ENSP00000514616.1:n.*1560del
ENST00000699816.1:c.*919del ENSP00000514617.1:n.*919del
ENST00000699817.1:c.*1623del ENSP00000514618.1:n.*1623del
ENST00000699818.1:c.1624del ENSP00000514619.1:p.Glu542LysfsTer11
ENST00000699819.1:c.*1186del ENSP00000514620.1:n.*1186del
ENST00000699820.1:c.1167del ENSP00000514621.1:p.Trp389Ter
ENST00000699821.1:c.1624del ENSP00000514622.1:p.Glu542LysfsTer11
ENST00000699822.1:c.*1481del ENSP00000514623.1:n.*1481del
ENST00000699823.1:c.1624del ENSP00000514624.1:p.Glu542LysfsTer11
ENST00000699824.1:c.*1532del ENSP00000514625.1:n.*1532del
ENST00000699825.1:c.1468del ENSP00000514626.1:p.Glu490LysfsTer11
ENST00000699826.1:c.*1428del ENSP00000514627.1:n.*1428del
ENST00000699827.1:c.1861del ENSP00000514628.1:p.Glu621LysfsTer11
ENST00000699828.1:c.*1119del ENSP00000514629.1:n.*1119del
ENST00000699833.1:n.3801del
ENST00000699837.1:c.1624del ENSP00000514635.1:p.Glu542LysfsTer11
ENST00000699838.1:c.*1929del ENSP00000514636.1:n.*1929del
ENST00000699839.1:c.2215del ENSP00000514637.1:p.Glu739LysfsTer11
ENST00000699916.1:c.*1286del ENSP00000514684.1:n.*1286del
ENST00000699917.1:c.*1478del ENSP00000514685.1:n.*1478del
ENST00000699918.1:c.*1530del ENSP00000514686.1:n.*1530del
ENST00000699919.1:c.*1616del ENSP00000514687.1:n.*1616del
ENST00000699920.1:c.*1665del ENSP00000514688.1:n.*1665del
ENST00000699928.1:c.1011del ENSP00000514693.1:p.Trp337Ter
ENST00000699951.1:c.*1125del ENSP00000514706.1:n.*1125del
ENST00000699952.1:c.804-9427del ENSP00000514707.1:n.804-9427del
ENST00000265849.12:c.2029del MANE Select ENSP00000265849.7:p.Glu677LysfsTer11
ENST00000642292.1:c.1624del ENSP00000495524.1:p.Glu542LysfsTer11
ENST00000642456.1:c.1624del ENSP00000493814.1:p.Glu542LysfsTer11
ENST00000643595.1:c.*1428del ENSP00000494497.1:n.*1428del
ENST00000644110.1:c.1711del ENSP00000496392.1:p.Glu571LysfsTer11
ENST00000265849.11:c.2029del ENSP00000265849.7:p.Glu677LysfsTer11
ENST00000382321.5:c.826del ENSP00000371758.4:p.Glu276LysfsTer11
ENST00000406569.7:n.1678+4118del
ENST00000441476.6:c.1711del ENSP00000392843.2:p.Glu571LysfsTer11
ENST00000469652.1:n.63-64del
NM_000535.5:c.2029del , LRG_161t1:c.2029del NP_000526.1:p.Glu677LysfsTer11
NR_003085.2:n.2111del
XM_006715742.2:c.2023del XP_006715805.1:p.Glu675LysfsTer11
XM_006715744.2:c.1096del XP_006715807.1:p.Glu366LysfsTer11
XM_011515427.1:c.2074del XP_011513729.1:p.Glu692LysfsTer11
XM_011515428.1:c.1918del XP_011513730.1:p.Glu640LysfsTer11
XM_011515429.1:c.1711del XP_011513731.1:p.Glu571LysfsTer11
XM_011515430.1:c.1711del XP_011513732.1:p.Glu571LysfsTer11
NM_000535.6:c.2029del NP_000526.2:p.Glu677LysfsTer11
NM_001322003.1:c.1624del NP_001308932.1:p.Glu542LysfsTer11
NM_001322004.1:c.1624del NP_001308933.1:p.Glu542LysfsTer11
NM_001322005.1:c.1624del NP_001308934.1:p.Glu542LysfsTer11
NM_001322006.1:c.1873del NP_001308935.1:p.Glu625LysfsTer11
NM_001322007.1:c.1711del NP_001308936.1:p.Glu571LysfsTer11
NM_001322008.1:c.1711del NP_001308937.1:p.Glu571LysfsTer11
NM_001322009.1:c.1624del NP_001308938.1:p.Glu542LysfsTer11
NM_001322010.1:c.1468del NP_001308939.1:p.Glu490LysfsTer11
NM_001322011.1:c.1096del NP_001308940.1:p.Glu366LysfsTer11
NM_001322012.1:c.1096del NP_001308941.1:p.Glu366LysfsTer11
NM_001322013.1:c.1456del NP_001308942.1:p.Glu486LysfsTer11
NM_001322014.1:c.2029del NP_001308943.1:p.Glu677LysfsTer11
NM_001322015.1:c.1720del NP_001308944.1:p.Glu574LysfsTer11
NR_136154.1:n.2116del
XM_006715744.4:c.1096del XP_006715807.1:p.Glu366LysfsTer11
XM_017012342.2:c.1096del XP_016867831.1:p.Glu366LysfsTer11
XM_024446800.1:c.1468del XP_024302568.1:p.Glu490LysfsTer11
NM_000535.7:c.2029del MANE Select NP_000526.2:p.Glu677LysfsTer11
NM_001322003.2:c.1624del NP_001308932.1:p.Glu542LysfsTer11
NM_001322004.2:c.1624del NP_001308933.1:p.Glu542LysfsTer11
NM_001322005.2:c.1624del NP_001308934.1:p.Glu542LysfsTer11
NM_001322006.2:c.1873del NP_001308935.1:p.Glu625LysfsTer11
NM_001322008.2:c.1711del NP_001308937.1:p.Glu571LysfsTer11
NM_001322009.2:c.1624del NP_001308938.1:p.Glu542LysfsTer11
NM_001322010.2:c.1468del NP_001308939.1:p.Glu490LysfsTer11
NM_001322011.2:c.1096del NP_001308940.1:p.Glu366LysfsTer11
NM_001322012.2:c.1096del NP_001308941.1:p.Glu366LysfsTer11
NM_001322013.2:c.1456del NP_001308942.1:p.Glu486LysfsTer11
NM_001322014.2:c.2029del NP_001308943.1:p.Glu677LysfsTer11
NM_001322015.2:c.1720del NP_001308944.1:p.Glu574LysfsTer11
NM_001322007.2:c.1711del NP_001308936.1:p.Glu571LysfsTer11