Canonical Allele Identifier: CA16618484
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423571
dbSNP Id: rs1064796500
gnomAD v4: 7-5973454-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5973458del , CM000669.2:g.5973458del GRCh38
NC_000007.13:g.6013089del , CM000669.1:g.6013089del GRCh37
NC_000007.12:g.5979615del NCBI36
NG_008466.1:g.40652del , LRG_161:g.40652del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1929del ENSP00000514615.2:n.*1929del
ENST00000699840.2:c.2530del ENSP00000514638.2:p.His844MetfsTer6
ENST00000699930.2:c.2425del ENSP00000514695.2:p.His809MetfsTer6
ENST00000406569.8:c.1893del ENSP00000514464.1:n.1893del
ENST00000644110.2:c.*2127del ENSP00000496392.2:n.*2127del
ENST00000699752.1:c.2377del ENSP00000514561.1:p.His793MetfsTer6
ENST00000699753.1:c.*1954del ENSP00000514562.1:n.*1954del
ENST00000699754.1:c.2335del ENSP00000514563.1:p.His779MetfsTer6
ENST00000699755.1:c.*1932del ENSP00000514564.1:n.*1932del
ENST00000699756.1:c.*2120del ENSP00000514565.1:n.*2120del
ENST00000699757.1:c.*1790del ENSP00000514566.1:n.*1790del
ENST00000699758.1:c.*1790del ENSP00000514567.1:n.*1790del
ENST00000699759.1:n.3387del
ENST00000699760.1:c.2215del ENSP00000514568.1:p.His739MetfsTer6
ENST00000699761.1:c.2128del ENSP00000514569.1:p.His710MetfsTer6
ENST00000699762.1:c.1960del ENSP00000514570.1:p.His654MetfsTer6
ENST00000699763.1:c.*1623del ENSP00000514571.1:n.*1623del
ENST00000699764.1:c.*851del ENSP00000514572.1:n.*851del
ENST00000699765.1:c.*1528del ENSP00000514573.1:n.*1528del
ENST00000699766.1:c.2566del ENSP00000514574.1:p.His856MetfsTer6
ENST00000699767.1:c.*174del ENSP00000514575.1:n.*174del
ENST00000699768.1:c.2389del ENSP00000514576.1:p.His797MetfsTer6
ENST00000699811.1:c.2128del ENSP00000514614.1:p.His710MetfsTer6
ENST00000699813.1:n.2646del
ENST00000699814.1:c.2156del
ENST00000699815.1:c.*2064del ENSP00000514616.1:n.*2064del
ENST00000699816.1:c.*1423del ENSP00000514617.1:n.*1423del
ENST00000699817.1:c.*2127del ENSP00000514618.1:n.*2127del
ENST00000699818.1:c.2128del ENSP00000514619.1:p.His710MetfsTer6
ENST00000699819.1:c.*1690del ENSP00000514620.1:n.*1690del
ENST00000699820.1:c.*471del ENSP00000514621.1:n.*471del
ENST00000699821.1:c.2161del ENSP00000514622.1:p.His721MetfsTer6
ENST00000699822.1:c.*1985del ENSP00000514623.1:n.*1985del
ENST00000699823.1:c.2128del ENSP00000514624.1:p.His710MetfsTer6
ENST00000699824.1:c.*2036del ENSP00000514625.1:n.*2036del
ENST00000699825.1:c.1972del ENSP00000514626.1:p.His658MetfsTer6
ENST00000699826.1:c.*1932del ENSP00000514627.1:n.*1932del
ENST00000699827.1:c.2365del ENSP00000514628.1:p.His789MetfsTer6
ENST00000699828.1:c.*1623del ENSP00000514629.1:n.*1623del
ENST00000699833.1:n.4305del
ENST00000699837.1:c.2128del ENSP00000514635.1:p.His710MetfsTer6
ENST00000699838.1:c.*2433del ENSP00000514636.1:n.*2433del
ENST00000699839.1:c.2719del ENSP00000514637.1:p.His907MetfsTer6
ENST00000699916.1:c.*1790del ENSP00000514684.1:n.*1790del
ENST00000699917.1:c.*1982del ENSP00000514685.1:n.*1982del
ENST00000699918.1:c.*2034del ENSP00000514686.1:n.*2034del
ENST00000699919.1:c.*2120del ENSP00000514687.1:n.*2120del
ENST00000699920.1:c.*2169del ENSP00000514688.1:n.*2169del
ENST00000699928.1:c.*471del ENSP00000514693.1:n.*471del
ENST00000699951.1:c.*1586del ENSP00000514706.1:n.*1586del
ENST00000699952.1:c.*87del ENSP00000514707.1:n.*87del
ENST00000265849.12:c.2533del MANE Select ENSP00000265849.7:p.His845MetfsTer6
ENST00000642292.1:c.2128del ENSP00000495524.1:p.His710MetfsTer6
ENST00000642456.1:c.2128del ENSP00000493814.1:p.His710MetfsTer6
ENST00000643595.1:c.*1932del ENSP00000494497.1:n.*1932del
ENST00000644110.1:c.2215del ENSP00000496392.1:p.His739MetfsTer6
ENST00000265849.11:c.2533del ENSP00000265849.7:p.His845MetfsTer6
ENST00000382321.5:c.1330del ENSP00000371758.4:p.His444MetfsTer6
ENST00000441476.6:c.2215del ENSP00000392843.2:p.His739MetfsTer6
NM_000535.5:c.2533del , LRG_161t1:c.2533del NP_000526.1:p.His845MetfsTer6
NR_003085.2:n.2615del
XM_006715742.2:c.2527del XP_006715805.1:p.His843MetfsTer6
XM_006715744.2:c.1600del XP_006715807.1:p.His534MetfsTer6
XM_011515427.1:c.2578del XP_011513729.1:p.His860MetfsTer6
XM_011515428.1:c.2422del XP_011513730.1:p.His808MetfsTer6
XM_011515429.1:c.2215del XP_011513731.1:p.His739MetfsTer6
XM_011515430.1:c.2215del XP_011513732.1:p.His739MetfsTer6
NM_000535.6:c.2533del NP_000526.2:p.His845MetfsTer6
NM_001322003.1:c.2128del NP_001308932.1:p.His710MetfsTer6
NM_001322004.1:c.2128del NP_001308933.1:p.His710MetfsTer6
NM_001322005.1:c.2128del NP_001308934.1:p.His710MetfsTer6
NM_001322006.1:c.2377del NP_001308935.1:p.His793MetfsTer6
NM_001322007.1:c.2215del NP_001308936.1:p.His739MetfsTer6
NM_001322008.1:c.2215del NP_001308937.1:p.His739MetfsTer6
NM_001322009.1:c.2161del NP_001308938.1:p.His721MetfsTer6
NM_001322010.1:c.1972del NP_001308939.1:p.His658MetfsTer6
NM_001322011.1:c.1600del NP_001308940.1:p.His534MetfsTer6
NM_001322012.1:c.1600del NP_001308941.1:p.His534MetfsTer6
NM_001322013.1:c.1960del NP_001308942.1:p.His654MetfsTer6
NM_001322014.1:c.2566del NP_001308943.1:p.His856MetfsTer6
NM_001322015.1:c.2224del NP_001308944.1:p.His742MetfsTer6
NR_136154.1:n.2577del
XM_006715744.4:c.1600del XP_006715807.1:p.His534MetfsTer6
XM_017012342.2:c.1600del XP_016867831.1:p.His534MetfsTer6
XM_024446800.1:c.1972del XP_024302568.1:p.His658MetfsTer6
NM_000535.7:c.2533del MANE Select NP_000526.2:p.His845MetfsTer6
NM_001322003.2:c.2128del NP_001308932.1:p.His710MetfsTer6
NM_001322004.2:c.2128del NP_001308933.1:p.His710MetfsTer6
NM_001322005.2:c.2128del NP_001308934.1:p.His710MetfsTer6
NM_001322006.2:c.2377del NP_001308935.1:p.His793MetfsTer6
NM_001322008.2:c.2215del NP_001308937.1:p.His739MetfsTer6
NM_001322009.2:c.2161del NP_001308938.1:p.His721MetfsTer6
NM_001322010.2:c.1972del NP_001308939.1:p.His658MetfsTer6
NM_001322011.2:c.1600del NP_001308940.1:p.His534MetfsTer6
NM_001322012.2:c.1600del NP_001308941.1:p.His534MetfsTer6
NM_001322013.2:c.1960del NP_001308942.1:p.His654MetfsTer6
NM_001322014.2:c.2566del NP_001308943.1:p.His856MetfsTer6
NM_001322015.2:c.2224del NP_001308944.1:p.His742MetfsTer6
NM_001322007.2:c.2215del NP_001308936.1:p.His739MetfsTer6