Canonical Allele Identifier: CA2697553871
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2751312
ClinVar RCV Id: RCV003593710

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982872_5982886del , CM000669.2:g.5982872_5982886del GRCh38
NC_000007.13:g.6022503_6022517del , CM000669.1:g.6022503_6022517del GRCh37
NC_000007.12:g.5989029_5989043del NCBI36
NG_008466.1:g.31226_31240del , LRG_161:g.31226_31240del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1513_*1527del ENSP00000514615.2:n.*1513_*1527del
ENST00000699840.2:c.2114_2128del ENSP00000514638.2:p.Lys705_Glu709del
ENST00000699930.2:c.2009_2023del ENSP00000514695.2:p.Lys670_Glu674del
ENST00000406569.8:c.1678+4206_1678+4220del ENSP00000514464.1:n.1678+4206_1678+4220de...
ENST00000644110.2:c.*1711_*1725del ENSP00000496392.2:n.*1711_*1725del
ENST00000699752.1:c.1961_1975del ENSP00000514561.1:p.Lys654_Glu658del
ENST00000699753.1:c.*1538_*1552del ENSP00000514562.1:n.*1538_*1552del
ENST00000699754.1:c.1919_1933del ENSP00000514563.1:p.Lys640_Glu644del
ENST00000699755.1:c.*1516_*1530del ENSP00000514564.1:n.*1516_*1530del
ENST00000699756.1:c.*1704_*1718del ENSP00000514565.1:n.*1704_*1718del
ENST00000699757.1:c.*1374_*1388del ENSP00000514566.1:n.*1374_*1388del
ENST00000699758.1:c.*1374_*1388del ENSP00000514567.1:n.*1374_*1388del
ENST00000699759.1:n.2971_2985del
ENST00000699760.1:c.1799_1813del ENSP00000514568.1:p.Lys600_Glu604del
ENST00000699761.1:c.1712_1726del ENSP00000514569.1:p.Lys571_Glu575del
ENST00000699762.1:c.1544_1558del ENSP00000514570.1:p.Lys515_Glu519del
ENST00000699763.1:c.*1207_*1221del ENSP00000514571.1:n.*1207_*1221del
ENST00000699764.1:c.*435_*449del ENSP00000514572.1:n.*435_*449del
ENST00000699765.1:c.*1213_*1227del ENSP00000514573.1:n.*1213_*1227del
ENST00000699766.1:c.2117_2131del ENSP00000514574.1:p.Lys706_Glu710del
ENST00000699767.1:c.2117_2131del ENSP00000514575.1:p.Lys706_Glu710del
ENST00000699768.1:c.2117_2131del ENSP00000514576.1:p.Lys706_Glu710del
ENST00000699811.1:c.1712_1726del ENSP00000514614.1:p.Lys571_Glu575del
ENST00000699813.1:n.2230_2244del
ENST00000699814.1:c.1740_1754del
ENST00000699815.1:c.*1648_*1662del ENSP00000514616.1:n.*1648_*1662del
ENST00000699816.1:c.*1007_*1021del ENSP00000514617.1:n.*1007_*1021del
ENST00000699817.1:c.*1711_*1725del ENSP00000514618.1:n.*1711_*1725del
ENST00000699818.1:c.1712_1726del ENSP00000514619.1:p.Lys571_Glu575del
ENST00000699819.1:c.*1274_*1288del ENSP00000514620.1:n.*1274_*1288del
ENST00000699820.1:c.*55_*69del ENSP00000514621.1:n.*55_*69del
ENST00000699821.1:c.1712_1726del ENSP00000514622.1:p.Lys571_Glu575del
ENST00000699822.1:c.*1569_*1583del ENSP00000514623.1:n.*1569_*1583del
ENST00000699823.1:c.1712_1726del ENSP00000514624.1:p.Lys571_Glu575del
ENST00000699824.1:c.*1620_*1634del ENSP00000514625.1:n.*1620_*1634del
ENST00000699825.1:c.1556_1570del ENSP00000514626.1:p.Lys519_Glu523del
ENST00000699826.1:c.*1516_*1530del ENSP00000514627.1:n.*1516_*1530del
ENST00000699827.1:c.1949_1963del ENSP00000514628.1:p.Lys650_Glu654del
ENST00000699828.1:c.*1207_*1221del ENSP00000514629.1:n.*1207_*1221del
ENST00000699833.1:n.3889_3903del
ENST00000699837.1:c.1712_1726del ENSP00000514635.1:p.Lys571_Glu575del
ENST00000699838.1:c.*2017_*2031del ENSP00000514636.1:n.*2017_*2031del
ENST00000699839.1:c.2303_2317del ENSP00000514637.1:p.Lys768_Glu772del
ENST00000699916.1:c.*1374_*1388del ENSP00000514684.1:n.*1374_*1388del
ENST00000699917.1:c.*1566_*1580del ENSP00000514685.1:n.*1566_*1580del
ENST00000699918.1:c.*1618_*1632del ENSP00000514686.1:n.*1618_*1632del
ENST00000699919.1:c.*1704_*1718del ENSP00000514687.1:n.*1704_*1718del
ENST00000699920.1:c.*1753_*1767del ENSP00000514688.1:n.*1753_*1767del
ENST00000699928.1:c.*55_*69del ENSP00000514693.1:n.*55_*69del
ENST00000699951.1:c.*1213_*1227del ENSP00000514706.1:n.*1213_*1227del
ENST00000699952.1:c.804-9339_804-9325del ENSP00000514707.1:n.804-9339_804-9325del
ENST00000265849.12:c.2117_2131del MANE Select ENSP00000265849.7:p.Lys706_Glu710del
ENST00000642292.1:c.1712_1726del ENSP00000495524.1:p.Lys571_Glu575del
ENST00000642456.1:c.1712_1726del ENSP00000493814.1:p.Lys571_Glu575del
ENST00000643595.1:c.*1516_*1530del ENSP00000494497.1:n.*1516_*1530del
ENST00000644110.1:c.1799_1813del ENSP00000496392.1:p.Lys600_Glu604del
ENST00000265849.11:c.2117_2131del ENSP00000265849.7:p.Lys706_Glu710del
ENST00000382321.5:c.914_928del ENSP00000371758.4:p.Lys305_Glu309del
ENST00000406569.7:n.1678+4206_1678+4220del
ENST00000441476.6:c.1799_1813del ENSP00000392843.2:p.Lys600_Glu604del
NM_000535.5:c.2117_2131del , LRG_161t1:c.2117_2131del NP_000526.1:p.Lys706_Glu710del
NR_003085.2:n.2199_2213del
XM_006715742.2:c.2111_2125del XP_006715805.1:p.Lys704_Glu708del
XM_006715744.2:c.1184_1198del XP_006715807.1:p.Lys395_Glu399del
XM_011515427.1:c.2162_2176del XP_011513729.1:p.Lys721_Glu725del
XM_011515428.1:c.2006_2020del XP_011513730.1:p.Lys669_Glu673del
XM_011515429.1:c.1799_1813del XP_011513731.1:p.Lys600_Glu604del
XM_011515430.1:c.1799_1813del XP_011513732.1:p.Lys600_Glu604del
NM_000535.6:c.2117_2131del NP_000526.2:p.Lys706_Glu710del
NM_001322003.1:c.1712_1726del NP_001308932.1:p.Lys571_Glu575del
NM_001322004.1:c.1712_1726del NP_001308933.1:p.Lys571_Glu575del
NM_001322005.1:c.1712_1726del NP_001308934.1:p.Lys571_Glu575del
NM_001322006.1:c.1961_1975del NP_001308935.1:p.Lys654_Glu658del
NM_001322007.1:c.1799_1813del NP_001308936.1:p.Lys600_Glu604del
NM_001322008.1:c.1799_1813del NP_001308937.1:p.Lys600_Glu604del
NM_001322009.1:c.1712_1726del NP_001308938.1:p.Lys571_Glu575del
NM_001322010.1:c.1556_1570del NP_001308939.1:p.Lys519_Glu523del
NM_001322011.1:c.1184_1198del NP_001308940.1:p.Lys395_Glu399del
NM_001322012.1:c.1184_1198del NP_001308941.1:p.Lys395_Glu399del
NM_001322013.1:c.1544_1558del NP_001308942.1:p.Lys515_Glu519del
NM_001322014.1:c.2117_2131del NP_001308943.1:p.Lys706_Glu710del
NM_001322015.1:c.1808_1822del NP_001308944.1:p.Lys603_Glu607del
NR_136154.1:n.2204_2218del
XM_006715744.4:c.1184_1198del XP_006715807.1:p.Lys395_Glu399del
XM_017012342.2:c.1184_1198del XP_016867831.1:p.Lys395_Glu399del
XM_024446800.1:c.1556_1570del XP_024302568.1:p.Lys519_Glu523del
NM_000535.7:c.2117_2131del MANE Select NP_000526.2:p.Lys706_Glu710del
NM_001322003.2:c.1712_1726del NP_001308932.1:p.Lys571_Glu575del
NM_001322004.2:c.1712_1726del NP_001308933.1:p.Lys571_Glu575del
NM_001322005.2:c.1712_1726del NP_001308934.1:p.Lys571_Glu575del
NM_001322006.2:c.1961_1975del NP_001308935.1:p.Lys654_Glu658del
NM_001322008.2:c.1799_1813del NP_001308937.1:p.Lys600_Glu604del
NM_001322009.2:c.1712_1726del NP_001308938.1:p.Lys571_Glu575del
NM_001322010.2:c.1556_1570del NP_001308939.1:p.Lys519_Glu523del
NM_001322011.2:c.1184_1198del NP_001308940.1:p.Lys395_Glu399del
NM_001322012.2:c.1184_1198del NP_001308941.1:p.Lys395_Glu399del
NM_001322013.2:c.1544_1558del NP_001308942.1:p.Lys515_Glu519del
NM_001322014.2:c.2117_2131del NP_001308943.1:p.Lys706_Glu710del
NM_001322015.2:c.1808_1822del NP_001308944.1:p.Lys603_Glu607del
NM_001322007.2:c.1799_1813del NP_001308936.1:p.Lys600_Glu604del