Canonical Allele Identifier: CA16040597
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9243
ClinVar RCV Id: RCV000009824
dbSNP Id: rs1057515571

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5995592del , CM000669.2:g.5995592del GRCh38
NC_000007.13:g.6035223del , CM000669.1:g.6035223del GRCh37
NC_000007.12:g.6001749del NCBI36
NG_008466.1:g.18516del , LRG_161:g.18516del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*299+3517del ENSP00000514615.2:n.*299+3517del
ENST00000699840.2:c.843del ENSP00000514638.2:p.Ser282ValfsTer24
ENST00000699930.2:c.738del ENSP00000514695.2:p.Ser247ValfsTer24
ENST00000406569.8:c.846del ENSP00000514464.1:p.Ser283ValfsTer24
ENST00000644110.2:c.*440del ENSP00000496392.2:n.*440del
ENST00000699752.1:c.846del ENSP00000514561.1:p.Ser283ValfsTer24
ENST00000699753.1:c.*202+1735del ENSP00000514562.1:n.*202+1735del
ENST00000699754.1:c.705+3517del ENSP00000514563.1:n.705+3517del
ENST00000699755.1:c.*245del ENSP00000514564.1:n.*245del
ENST00000699756.1:c.*433del ENSP00000514565.1:n.*433del
ENST00000699757.1:c.*103del ENSP00000514566.1:n.*103del
ENST00000699758.1:c.*103del ENSP00000514567.1:n.*103del
ENST00000699759.1:n.918del
ENST00000699760.1:c.528del ENSP00000514568.1:p.Ser177ValfsTer24
ENST00000699761.1:c.441del ENSP00000514569.1:p.Ser148ValfsTer24
ENST00000699762.1:c.273del ENSP00000514570.1:p.Ser92ValfsTer24
ENST00000699763.1:c.441del ENSP00000514571.1:p.Ser148ValfsTer24
ENST00000699764.1:c.846del ENSP00000514572.1:p.Ser283ValfsTer24
ENST00000699765.1:c.485+1735del ENSP00000514573.1:n.485+1735del
ENST00000699766.1:c.846del ENSP00000514574.1:p.Ser283ValfsTer24
ENST00000699767.1:c.846del ENSP00000514575.1:p.Ser283ValfsTer24
ENST00000699768.1:c.846del ENSP00000514576.1:p.Ser283ValfsTer24
ENST00000699811.1:c.441del ENSP00000514614.1:p.Ser148ValfsTer24
ENST00000699813.1:n.959del
ENST00000699814.1:c.526+3517del
ENST00000699815.1:c.*305-987del ENSP00000514616.1:n.*305-987del
ENST00000699816.1:c.441del ENSP00000514617.1:p.Ser148ValfsTer24
ENST00000699817.1:c.*440del ENSP00000514618.1:n.*440del
ENST00000699818.1:c.441del ENSP00000514619.1:p.Ser148ValfsTer24
ENST00000699819.1:c.*60+1735del ENSP00000514620.1:n.*60+1735del
ENST00000699820.1:c.846del ENSP00000514621.1:p.Ser283ValfsTer24
ENST00000699821.1:c.441del ENSP00000514622.1:p.Ser148ValfsTer24
ENST00000699822.1:c.*298del ENSP00000514623.1:n.*298del
ENST00000699823.1:c.441del ENSP00000514624.1:p.Ser148ValfsTer24
ENST00000699824.1:c.*349del ENSP00000514625.1:n.*349del
ENST00000699825.1:c.441del ENSP00000514626.1:p.Ser148ValfsTer24
ENST00000699826.1:c.*245del ENSP00000514627.1:n.*245del
ENST00000699827.1:c.678del ENSP00000514628.1:p.Ser227ValfsTer24
ENST00000699828.1:c.846del ENSP00000514629.1:p.Ser283ValfsTer24
ENST00000699829.1:c.*347del ENSP00000514630.1:n.*347del
ENST00000699830.1:c.*245del ENSP00000514631.1:n.*245del
ENST00000699833.1:n.2618del
ENST00000699837.1:c.441del ENSP00000514635.1:p.Ser148ValfsTer24
ENST00000699838.1:c.*746del ENSP00000514636.1:n.*746del
ENST00000699839.1:c.1032del ENSP00000514637.1:p.Ser345ValfsTer24
ENST00000699840.1:c.843del ENSP00000514638.1:p.Ser282ValfsTer24
ENST00000699916.1:c.*103del ENSP00000514684.1:n.*103del
ENST00000699917.1:c.*295del ENSP00000514685.1:n.*295del
ENST00000699918.1:c.*347del ENSP00000514686.1:n.*347del
ENST00000699919.1:c.*433del ENSP00000514687.1:n.*433del
ENST00000699920.1:c.*482del ENSP00000514688.1:n.*482del
ENST00000699928.1:c.846del ENSP00000514693.1:p.Ser283ValfsTer24
ENST00000699929.1:c.*147del ENSP00000514694.1:n.*147del
ENST00000699930.1:c.738del ENSP00000514695.1:p.Ser247ValfsTer24
ENST00000699931.1:n.957del
ENST00000699932.1:c.803+1735del ENSP00000514696.1:n.803+1735del
ENST00000699933.1:n.883+1735del
ENST00000699951.1:c.803+1735del ENSP00000514706.1:n.803+1735del
ENST00000699952.1:c.803+1735del ENSP00000514707.1:n.803+1735del
ENST00000699953.1:c.748del ENSP00000514708.1:p.Glu250SerfsTer?
ENST00000699954.1:c.*147del ENSP00000514709.1:n.*147del
ENST00000265849.12:c.846del MANE Select ENSP00000265849.7:p.Ser283ValfsTer24
ENST00000642292.1:c.441del ENSP00000495524.1:p.Ser148ValfsTer24
ENST00000642456.1:c.441del ENSP00000493814.1:p.Ser148ValfsTer24
ENST00000643595.1:c.*245del ENSP00000494497.1:n.*245del
ENST00000644110.1:c.528del ENSP00000496392.1:p.Ser177ValfsTer24
ENST00000265849.11:c.846del ENSP00000265849.7:p.Ser283ValfsTer24
ENST00000382321.5:c.803+1735del ENSP00000371758.4:n.803+1735del
ENST00000406569.7:n.846del
ENST00000441476.6:c.528del ENSP00000392843.2:p.Ser177ValfsTer24
ENST00000469652.1:n.62+10402del
NM_000535.5:c.846del , LRG_161t1:c.846del NP_000526.1:p.Ser283ValfsTer24
NR_003085.2:n.928del
XM_006715742.2:c.840del XP_006715805.1:p.Ser281ValfsTer24
XM_011515427.1:c.891del XP_011513729.1:p.Ser298ValfsTer24
XM_011515428.1:c.891del XP_011513730.1:p.Ser298ValfsTer24
XM_011515429.1:c.528del XP_011513731.1:p.Ser177ValfsTer24
XM_011515430.1:c.528del XP_011513732.1:p.Ser177ValfsTer24
NM_000535.6:c.846del NP_000526.2:p.Ser283ValfsTer24
NM_001322003.1:c.441del NP_001308932.1:p.Ser148ValfsTer24
NM_001322004.1:c.441del NP_001308933.1:p.Ser148ValfsTer24
NM_001322005.1:c.441del NP_001308934.1:p.Ser148ValfsTer24
NM_001322006.1:c.846del NP_001308935.1:p.Ser283ValfsTer24
NM_001322007.1:c.528del NP_001308936.1:p.Ser177ValfsTer24
NM_001322008.1:c.528del NP_001308937.1:p.Ser177ValfsTer24
NM_001322009.1:c.441del NP_001308938.1:p.Ser148ValfsTer24
NM_001322010.1:c.441del NP_001308939.1:p.Ser148ValfsTer24
NM_001322011.1:c.-88del NP_001308940.1:n.-88del
NM_001322012.1:c.-88del NP_001308941.1:n.-88del
NM_001322013.1:c.273del NP_001308942.1:p.Ser92ValfsTer24
NM_001322014.1:c.846del NP_001308943.1:p.Ser283ValfsTer24
NM_001322015.1:c.537del NP_001308944.1:p.Ser180ValfsTer24
NR_136154.1:n.933del
XM_017012342.2:c.-31+1735del XP_016867831.1:n.-31+1735del
XM_024446800.1:c.441del XP_024302568.1:p.Ser148ValfsTer24
NM_000535.7:c.846del MANE Select NP_000526.2:p.Ser283ValfsTer24
NM_001322003.2:c.441del NP_001308932.1:p.Ser148ValfsTer24
NM_001322004.2:c.441del NP_001308933.1:p.Ser148ValfsTer24
NM_001322005.2:c.441del NP_001308934.1:p.Ser148ValfsTer24
NM_001322006.2:c.846del NP_001308935.1:p.Ser283ValfsTer24
NM_001322008.2:c.528del NP_001308937.1:p.Ser177ValfsTer24
NM_001322009.2:c.441del NP_001308938.1:p.Ser148ValfsTer24
NM_001322010.2:c.441del NP_001308939.1:p.Ser148ValfsTer24
NM_001322011.2:c.-88del NP_001308940.1:n.-88del
NM_001322012.2:c.-88del NP_001308941.1:n.-88del
NM_001322013.2:c.273del NP_001308942.1:p.Ser92ValfsTer24
NM_001322014.2:c.846del NP_001308943.1:p.Ser283ValfsTer24
NM_001322015.2:c.537del NP_001308944.1:p.Ser180ValfsTer24
NM_001322007.2:c.528del NP_001308936.1:p.Ser177ValfsTer24