Canonical Allele Identifier: CA2695198407
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674215
ClinVar RCV Id: RCV003452411

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982968del , CM000669.2:g.5982968del GRCh38
NC_000007.13:g.6022599del , CM000669.1:g.6022599del GRCh37
NC_000007.12:g.5989125del NCBI36
NG_008466.1:g.31141del , LRG_161:g.31141del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1428del ENSP00000514615.2:n.*1428del
ENST00000699840.2:c.2029del ENSP00000514638.2:p.Ile677SerfsTer10
ENST00000699930.2:c.1924del ENSP00000514695.2:p.Ile642SerfsTer10
ENST00000406569.8:c.1678+4121del ENSP00000514464.1:n.1678+4121del
ENST00000644110.2:c.*1626del ENSP00000496392.2:n.*1626del
ENST00000699752.1:c.1876del ENSP00000514561.1:p.Ile626SerfsTer10
ENST00000699753.1:c.*1453del ENSP00000514562.1:n.*1453del
ENST00000699754.1:c.1834del ENSP00000514563.1:p.Ile612SerfsTer10
ENST00000699755.1:c.*1431del ENSP00000514564.1:n.*1431del
ENST00000699756.1:c.*1619del ENSP00000514565.1:n.*1619del
ENST00000699757.1:c.*1289del ENSP00000514566.1:n.*1289del
ENST00000699758.1:c.*1289del ENSP00000514567.1:n.*1289del
ENST00000699759.1:n.2886del
ENST00000699760.1:c.1714del ENSP00000514568.1:p.Ile572SerfsTer10
ENST00000699761.1:c.1627del ENSP00000514569.1:p.Ile543SerfsTer10
ENST00000699762.1:c.1459del ENSP00000514570.1:p.Ile487SerfsTer10
ENST00000699763.1:c.*1122del ENSP00000514571.1:n.*1122del
ENST00000699764.1:c.*350del ENSP00000514572.1:n.*350del
ENST00000699765.1:c.*1128del ENSP00000514573.1:n.*1128del
ENST00000699766.1:c.2032del ENSP00000514574.1:p.Ile678SerfsTer10
ENST00000699767.1:c.2032del ENSP00000514575.1:p.Ile678SerfsTer10
ENST00000699768.1:c.2032del ENSP00000514576.1:p.Ile678SerfsTer10
ENST00000699811.1:c.1627del ENSP00000514614.1:p.Ile543SerfsTer10
ENST00000699813.1:n.2145del
ENST00000699814.1:c.1655del
ENST00000699815.1:c.*1563del ENSP00000514616.1:n.*1563del
ENST00000699816.1:c.*922del ENSP00000514617.1:n.*922del
ENST00000699817.1:c.*1626del ENSP00000514618.1:n.*1626del
ENST00000699818.1:c.1627del ENSP00000514619.1:p.Ile543SerfsTer10
ENST00000699819.1:c.*1189del ENSP00000514620.1:n.*1189del
ENST00000699820.1:c.1170del ENSP00000514621.1:p.Lys390AsnfsTer6
ENST00000699821.1:c.1627del ENSP00000514622.1:p.Ile543SerfsTer10
ENST00000699822.1:c.*1484del ENSP00000514623.1:n.*1484del
ENST00000699823.1:c.1627del ENSP00000514624.1:p.Ile543SerfsTer10
ENST00000699824.1:c.*1535del ENSP00000514625.1:n.*1535del
ENST00000699825.1:c.1471del ENSP00000514626.1:p.Ile491SerfsTer10
ENST00000699826.1:c.*1431del ENSP00000514627.1:n.*1431del
ENST00000699827.1:c.1864del ENSP00000514628.1:p.Ile622SerfsTer10
ENST00000699828.1:c.*1122del ENSP00000514629.1:n.*1122del
ENST00000699833.1:n.3804del
ENST00000699837.1:c.1627del ENSP00000514635.1:p.Ile543SerfsTer10
ENST00000699838.1:c.*1932del ENSP00000514636.1:n.*1932del
ENST00000699839.1:c.2218del ENSP00000514637.1:p.Ile740SerfsTer10
ENST00000699916.1:c.*1289del ENSP00000514684.1:n.*1289del
ENST00000699917.1:c.*1481del ENSP00000514685.1:n.*1481del
ENST00000699918.1:c.*1533del ENSP00000514686.1:n.*1533del
ENST00000699919.1:c.*1619del ENSP00000514687.1:n.*1619del
ENST00000699920.1:c.*1668del ENSP00000514688.1:n.*1668del
ENST00000699928.1:c.1014del ENSP00000514693.1:p.Lys338AsnfsTer6
ENST00000699951.1:c.*1128del ENSP00000514706.1:n.*1128del
ENST00000699952.1:c.804-9424del ENSP00000514707.1:n.804-9424del
ENST00000265849.12:c.2032del MANE Select ENSP00000265849.7:p.Ile678SerfsTer10
ENST00000642292.1:c.1627del ENSP00000495524.1:p.Ile543SerfsTer10
ENST00000642456.1:c.1627del ENSP00000493814.1:p.Ile543SerfsTer10
ENST00000643595.1:c.*1431del ENSP00000494497.1:n.*1431del
ENST00000644110.1:c.1714del ENSP00000496392.1:p.Ile572SerfsTer10
ENST00000265849.11:c.2032del ENSP00000265849.7:p.Ile678SerfsTer10
ENST00000382321.5:c.829del ENSP00000371758.4:p.Ile277SerfsTer10
ENST00000406569.7:n.1678+4121del
ENST00000441476.6:c.1714del ENSP00000392843.2:p.Ile572SerfsTer10
ENST00000469652.1:n.63-61del
NM_000535.5:c.2032del , LRG_161t1:c.2032del NP_000526.1:p.Ile678SerfsTer10
NR_003085.2:n.2114del
XM_006715742.2:c.2026del XP_006715805.1:p.Ile676SerfsTer10
XM_006715744.2:c.1099del XP_006715807.1:p.Ile367SerfsTer10
XM_011515427.1:c.2077del XP_011513729.1:p.Ile693SerfsTer10
XM_011515428.1:c.1921del XP_011513730.1:p.Ile641SerfsTer10
XM_011515429.1:c.1714del XP_011513731.1:p.Ile572SerfsTer10
XM_011515430.1:c.1714del XP_011513732.1:p.Ile572SerfsTer10
NM_000535.6:c.2032del NP_000526.2:p.Ile678SerfsTer10
NM_001322003.1:c.1627del NP_001308932.1:p.Ile543SerfsTer10
NM_001322004.1:c.1627del NP_001308933.1:p.Ile543SerfsTer10
NM_001322005.1:c.1627del NP_001308934.1:p.Ile543SerfsTer10
NM_001322006.1:c.1876del NP_001308935.1:p.Ile626SerfsTer10
NM_001322007.1:c.1714del NP_001308936.1:p.Ile572SerfsTer10
NM_001322008.1:c.1714del NP_001308937.1:p.Ile572SerfsTer10
NM_001322009.1:c.1627del NP_001308938.1:p.Ile543SerfsTer10
NM_001322010.1:c.1471del NP_001308939.1:p.Ile491SerfsTer10
NM_001322011.1:c.1099del NP_001308940.1:p.Ile367SerfsTer10
NM_001322012.1:c.1099del NP_001308941.1:p.Ile367SerfsTer10
NM_001322013.1:c.1459del NP_001308942.1:p.Ile487SerfsTer10
NM_001322014.1:c.2032del NP_001308943.1:p.Ile678SerfsTer10
NM_001322015.1:c.1723del NP_001308944.1:p.Ile575SerfsTer10
NR_136154.1:n.2119del
XM_006715744.4:c.1099del XP_006715807.1:p.Ile367SerfsTer10
XM_017012342.2:c.1099del XP_016867831.1:p.Ile367SerfsTer10
XM_024446800.1:c.1471del XP_024302568.1:p.Ile491SerfsTer10
NM_000535.7:c.2032del MANE Select NP_000526.2:p.Ile678SerfsTer10
NM_001322003.2:c.1627del NP_001308932.1:p.Ile543SerfsTer10
NM_001322004.2:c.1627del NP_001308933.1:p.Ile543SerfsTer10
NM_001322005.2:c.1627del NP_001308934.1:p.Ile543SerfsTer10
NM_001322006.2:c.1876del NP_001308935.1:p.Ile626SerfsTer10
NM_001322008.2:c.1714del NP_001308937.1:p.Ile572SerfsTer10
NM_001322009.2:c.1627del NP_001308938.1:p.Ile543SerfsTer10
NM_001322010.2:c.1471del NP_001308939.1:p.Ile491SerfsTer10
NM_001322011.2:c.1099del NP_001308940.1:p.Ile367SerfsTer10
NM_001322012.2:c.1099del NP_001308941.1:p.Ile367SerfsTer10
NM_001322013.2:c.1459del NP_001308942.1:p.Ile487SerfsTer10
NM_001322014.2:c.2032del NP_001308943.1:p.Ile678SerfsTer10
NM_001322015.2:c.1723del NP_001308944.1:p.Ile575SerfsTer10
NM_001322007.2:c.1714del NP_001308936.1:p.Ile572SerfsTer10