Canonical Allele Identifier: CA2695198405
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674244
ClinVar RCV Id: RCV003452440

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982851del , CM000669.2:g.5982851del GRCh38
NC_000007.13:g.6022482del , CM000669.1:g.6022482del GRCh37
NC_000007.12:g.5989008del NCBI36
NG_008466.1:g.31257del , LRG_161:g.31257del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1544del ENSP00000514615.2:n.*1544del
ENST00000699840.2:c.2145del ENSP00000514638.2:p.Val716CysfsTer8
ENST00000699930.2:c.2040del ENSP00000514695.2:p.Val681CysfsTer8
ENST00000406569.8:c.1678+4237del ENSP00000514464.1:n.1678+4237del
ENST00000644110.2:c.*1742del ENSP00000496392.2:n.*1742del
ENST00000699752.1:c.1992del ENSP00000514561.1:p.Val665CysfsTer8
ENST00000699753.1:c.*1569del ENSP00000514562.1:n.*1569del
ENST00000699754.1:c.1950del ENSP00000514563.1:p.Val651CysfsTer8
ENST00000699755.1:c.*1547del ENSP00000514564.1:n.*1547del
ENST00000699756.1:c.*1735del ENSP00000514565.1:n.*1735del
ENST00000699757.1:c.*1405del ENSP00000514566.1:n.*1405del
ENST00000699758.1:c.*1405del ENSP00000514567.1:n.*1405del
ENST00000699759.1:n.3002del
ENST00000699760.1:c.1830del ENSP00000514568.1:p.Val611CysfsTer8
ENST00000699761.1:c.1743del ENSP00000514569.1:p.Val582CysfsTer8
ENST00000699762.1:c.1575del ENSP00000514570.1:p.Val526CysfsTer8
ENST00000699763.1:c.*1238del ENSP00000514571.1:n.*1238del
ENST00000699764.1:c.*466del ENSP00000514572.1:n.*466del
ENST00000699765.1:c.*1244del ENSP00000514573.1:n.*1244del
ENST00000699766.1:c.2148del ENSP00000514574.1:p.Val717CysfsTer8
ENST00000699767.1:c.2148del ENSP00000514575.1:p.Val717CysfsTer8
ENST00000699768.1:c.2148del ENSP00000514576.1:p.Val717CysfsTer8
ENST00000699811.1:c.1743del ENSP00000514614.1:p.Val582CysfsTer8
ENST00000699813.1:n.2261del
ENST00000699814.1:c.1771del
ENST00000699815.1:c.*1679del ENSP00000514616.1:n.*1679del
ENST00000699816.1:c.*1038del ENSP00000514617.1:n.*1038del
ENST00000699817.1:c.*1742del ENSP00000514618.1:n.*1742del
ENST00000699818.1:c.1743del ENSP00000514619.1:p.Val582CysfsTer8
ENST00000699819.1:c.*1305del ENSP00000514620.1:n.*1305del
ENST00000699820.1:c.*86del ENSP00000514621.1:n.*86del
ENST00000699821.1:c.1743del ENSP00000514622.1:p.Val582CysfsTer8
ENST00000699822.1:c.*1600del ENSP00000514623.1:n.*1600del
ENST00000699823.1:c.1743del ENSP00000514624.1:p.Val582CysfsTer8
ENST00000699824.1:c.*1651del ENSP00000514625.1:n.*1651del
ENST00000699825.1:c.1587del ENSP00000514626.1:p.Val530CysfsTer8
ENST00000699826.1:c.*1547del ENSP00000514627.1:n.*1547del
ENST00000699827.1:c.1980del ENSP00000514628.1:p.Val661CysfsTer8
ENST00000699828.1:c.*1238del ENSP00000514629.1:n.*1238del
ENST00000699833.1:n.3920del
ENST00000699837.1:c.1743del ENSP00000514635.1:p.Val582CysfsTer8
ENST00000699838.1:c.*2048del ENSP00000514636.1:n.*2048del
ENST00000699839.1:c.2334del ENSP00000514637.1:p.Val779CysfsTer8
ENST00000699916.1:c.*1405del ENSP00000514684.1:n.*1405del
ENST00000699917.1:c.*1597del ENSP00000514685.1:n.*1597del
ENST00000699918.1:c.*1649del ENSP00000514686.1:n.*1649del
ENST00000699919.1:c.*1735del ENSP00000514687.1:n.*1735del
ENST00000699920.1:c.*1784del ENSP00000514688.1:n.*1784del
ENST00000699928.1:c.*86del ENSP00000514693.1:n.*86del
ENST00000699951.1:c.*1244del ENSP00000514706.1:n.*1244del
ENST00000699952.1:c.804-9308del ENSP00000514707.1:n.804-9308del
ENST00000265849.12:c.2148del MANE Select ENSP00000265849.7:p.Val717CysfsTer8
ENST00000642292.1:c.1743del ENSP00000495524.1:p.Val582CysfsTer8
ENST00000642456.1:c.1743del ENSP00000493814.1:p.Val582CysfsTer8
ENST00000643595.1:c.*1547del ENSP00000494497.1:n.*1547del
ENST00000644110.1:c.1830del ENSP00000496392.1:p.Val611CysfsTer8
ENST00000265849.11:c.2148del ENSP00000265849.7:p.Val717CysfsTer8
ENST00000382321.5:c.945del ENSP00000371758.4:p.Val316CysfsTer8
ENST00000406569.7:n.1678+4237del
ENST00000441476.6:c.1830del ENSP00000392843.2:p.Val611CysfsTer8
NM_000535.5:c.2148del , LRG_161t1:c.2148del NP_000526.1:p.Val717CysfsTer8
NR_003085.2:n.2230del
XM_006715742.2:c.2142del XP_006715805.1:p.Val715CysfsTer8
XM_006715744.2:c.1215del XP_006715807.1:p.Val406CysfsTer8
XM_011515427.1:c.2193del XP_011513729.1:p.Val732CysfsTer8
XM_011515428.1:c.2037del XP_011513730.1:p.Val680CysfsTer8
XM_011515429.1:c.1830del XP_011513731.1:p.Val611CysfsTer8
XM_011515430.1:c.1830del XP_011513732.1:p.Val611CysfsTer8
NM_000535.6:c.2148del NP_000526.2:p.Val717CysfsTer8
NM_001322003.1:c.1743del NP_001308932.1:p.Val582CysfsTer8
NM_001322004.1:c.1743del NP_001308933.1:p.Val582CysfsTer8
NM_001322005.1:c.1743del NP_001308934.1:p.Val582CysfsTer8
NM_001322006.1:c.1992del NP_001308935.1:p.Val665CysfsTer8
NM_001322007.1:c.1830del NP_001308936.1:p.Val611CysfsTer8
NM_001322008.1:c.1830del NP_001308937.1:p.Val611CysfsTer8
NM_001322009.1:c.1743del NP_001308938.1:p.Val582CysfsTer8
NM_001322010.1:c.1587del NP_001308939.1:p.Val530CysfsTer8
NM_001322011.1:c.1215del NP_001308940.1:p.Val406CysfsTer8
NM_001322012.1:c.1215del NP_001308941.1:p.Val406CysfsTer8
NM_001322013.1:c.1575del NP_001308942.1:p.Val526CysfsTer8
NM_001322014.1:c.2148del NP_001308943.1:p.Val717CysfsTer8
NM_001322015.1:c.1839del NP_001308944.1:p.Val614CysfsTer8
NR_136154.1:n.2235del
XM_006715744.4:c.1215del XP_006715807.1:p.Val406CysfsTer8
XM_017012342.2:c.1215del XP_016867831.1:p.Val406CysfsTer8
XM_024446800.1:c.1587del XP_024302568.1:p.Val530CysfsTer8
NM_000535.7:c.2148del MANE Select NP_000526.2:p.Val717CysfsTer8
NM_001322003.2:c.1743del NP_001308932.1:p.Val582CysfsTer8
NM_001322004.2:c.1743del NP_001308933.1:p.Val582CysfsTer8
NM_001322005.2:c.1743del NP_001308934.1:p.Val582CysfsTer8
NM_001322006.2:c.1992del NP_001308935.1:p.Val665CysfsTer8
NM_001322008.2:c.1830del NP_001308937.1:p.Val611CysfsTer8
NM_001322009.2:c.1743del NP_001308938.1:p.Val582CysfsTer8
NM_001322010.2:c.1587del NP_001308939.1:p.Val530CysfsTer8
NM_001322011.2:c.1215del NP_001308940.1:p.Val406CysfsTer8
NM_001322012.2:c.1215del NP_001308941.1:p.Val406CysfsTer8
NM_001322013.2:c.1575del NP_001308942.1:p.Val526CysfsTer8
NM_001322014.2:c.2148del NP_001308943.1:p.Val717CysfsTer8
NM_001322015.2:c.1839del NP_001308944.1:p.Val614CysfsTer8
NM_001322007.2:c.1830del NP_001308936.1:p.Val611CysfsTer8