Canonical Allele Identifier: CA1685217428
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982890G= , CM000669.2:g.5982890G= GRCh38
NC_000007.13:g.6022521G= , CM000669.1:g.6022521G= GRCh37
NC_000007.12:g.5989047G= NCBI36
NG_008466.1:g.31217C= , LRG_161:g.31217C=

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1504C= ENSP00000514615.2:n.*1504C=
ENST00000699840.2:c.2105C= ENSP00000514638.2:p.Thr702=
ENST00000699930.2:c.2000C= ENSP00000514695.2:p.Thr667=
ENST00000406569.8:c.1678+4197C= ENSP00000514464.1:n.1678+4197C=
ENST00000644110.2:c.*1702C= ENSP00000496392.2:n.*1702C=
ENST00000699752.1:c.1952C= ENSP00000514561.1:p.Thr651=
ENST00000699753.1:c.*1529C= ENSP00000514562.1:n.*1529C=
ENST00000699754.1:c.1910C= ENSP00000514563.1:p.Thr637=
ENST00000699755.1:c.*1507C= ENSP00000514564.1:n.*1507C=
ENST00000699756.1:c.*1695C= ENSP00000514565.1:n.*1695C=
ENST00000699757.1:c.*1365C= ENSP00000514566.1:n.*1365C=
ENST00000699758.1:c.*1365C= ENSP00000514567.1:n.*1365C=
ENST00000699759.1:n.2962C=
ENST00000699760.1:c.1790C= ENSP00000514568.1:p.Thr597=
ENST00000699761.1:c.1703C= ENSP00000514569.1:p.Thr568=
ENST00000699762.1:c.1535C= ENSP00000514570.1:p.Thr512=
ENST00000699763.1:c.*1198C= ENSP00000514571.1:n.*1198C=
ENST00000699764.1:c.*426C= ENSP00000514572.1:n.*426C=
ENST00000699765.1:c.*1204C= ENSP00000514573.1:n.*1204C=
ENST00000699766.1:c.2108C= ENSP00000514574.1:p.Thr703=
ENST00000699767.1:c.2108C= ENSP00000514575.1:p.Thr703=
ENST00000699768.1:c.2108C= ENSP00000514576.1:p.Thr703=
ENST00000699811.1:c.1703C= ENSP00000514614.1:p.Thr568=
ENST00000699813.1:n.2221C=
ENST00000699814.1:c.1731C=
ENST00000699815.1:c.*1639C= ENSP00000514616.1:n.*1639C=
ENST00000699816.1:c.*998C= ENSP00000514617.1:n.*998C=
ENST00000699817.1:c.*1702C= ENSP00000514618.1:n.*1702C=
ENST00000699818.1:c.1703C= ENSP00000514619.1:p.Thr568=
ENST00000699819.1:c.*1265C= ENSP00000514620.1:n.*1265C=
ENST00000699820.1:c.*46C= ENSP00000514621.1:n.*46C=
ENST00000699821.1:c.1703C= ENSP00000514622.1:p.Thr568=
ENST00000699822.1:c.*1560C= ENSP00000514623.1:n.*1560C=
ENST00000699823.1:c.1703C= ENSP00000514624.1:p.Thr568=
ENST00000699824.1:c.*1611C= ENSP00000514625.1:n.*1611C=
ENST00000699825.1:c.1547C= ENSP00000514626.1:p.Thr516=
ENST00000699826.1:c.*1507C= ENSP00000514627.1:n.*1507C=
ENST00000699827.1:c.1940C= ENSP00000514628.1:p.Thr647=
ENST00000699828.1:c.*1198C= ENSP00000514629.1:n.*1198C=
ENST00000699833.1:n.3880C=
ENST00000699837.1:c.1703C= ENSP00000514635.1:p.Thr568=
ENST00000699838.1:c.*2008C= ENSP00000514636.1:n.*2008C=
ENST00000699839.1:c.2294C= ENSP00000514637.1:p.Thr765=
ENST00000699916.1:c.*1365C= ENSP00000514684.1:n.*1365C=
ENST00000699917.1:c.*1557C= ENSP00000514685.1:n.*1557C=
ENST00000699918.1:c.*1609C= ENSP00000514686.1:n.*1609C=
ENST00000699919.1:c.*1695C= ENSP00000514687.1:n.*1695C=
ENST00000699920.1:c.*1744C= ENSP00000514688.1:n.*1744C=
ENST00000699928.1:c.*46C= ENSP00000514693.1:n.*46C=
ENST00000699951.1:c.*1204C= ENSP00000514706.1:n.*1204C=
ENST00000699952.1:c.804-9348C= ENSP00000514707.1:n.804-9348C=
ENST00000265849.12:c.2108C= MANE Select ENSP00000265849.7:p.Thr703=
ENST00000642292.1:c.1703C= ENSP00000495524.1:p.Thr568=
ENST00000642456.1:c.1703C= ENSP00000493814.1:p.Thr568=
ENST00000643595.1:c.*1507C= ENSP00000494497.1:n.*1507C=
ENST00000644110.1:c.1790C= ENSP00000496392.1:p.Thr597=
ENST00000265849.11:c.2108C= ENSP00000265849.7:p.Thr703=
ENST00000382321.5:c.905C= ENSP00000371758.4:p.Thr302=
ENST00000406569.7:n.1678+4197C=
ENST00000441476.6:c.1790C= ENSP00000392843.2:p.Thr597=
ENST00000469652.1:n.78C=
NM_000535.5:c.2108C= , LRG_161t1:c.2108C= NP_000526.1:p.Thr703=
NR_003085.2:n.2190C=
XM_006715742.2:c.2102C= XP_006715805.1:p.Thr701=
XM_006715744.2:c.1175C= XP_006715807.1:p.Thr392=
XM_011515427.1:c.2153C= XP_011513729.1:p.Thr718=
XM_011515428.1:c.1997C= XP_011513730.1:p.Thr666=
XM_011515429.1:c.1790C= XP_011513731.1:p.Thr597=
XM_011515430.1:c.1790C= XP_011513732.1:p.Thr597=
NM_000535.6:c.2108C= NP_000526.2:p.Thr703=
NM_001322003.1:c.1703C= NP_001308932.1:p.Thr568=
NM_001322004.1:c.1703C= NP_001308933.1:p.Thr568=
NM_001322005.1:c.1703C= NP_001308934.1:p.Thr568=
NM_001322006.1:c.1952C= NP_001308935.1:p.Thr651=
NM_001322007.1:c.1790C= NP_001308936.1:p.Thr597=
NM_001322008.1:c.1790C= NP_001308937.1:p.Thr597=
NM_001322009.1:c.1703C= NP_001308938.1:p.Thr568=
NM_001322010.1:c.1547C= NP_001308939.1:p.Thr516=
NM_001322011.1:c.1175C= NP_001308940.1:p.Thr392=
NM_001322012.1:c.1175C= NP_001308941.1:p.Thr392=
NM_001322013.1:c.1535C= NP_001308942.1:p.Thr512=
NM_001322014.1:c.2108C= NP_001308943.1:p.Thr703=
NM_001322015.1:c.1799C= NP_001308944.1:p.Thr600=
NR_136154.1:n.2195C=
XM_006715744.4:c.1175C= XP_006715807.1:p.Thr392=
XM_017012342.2:c.1175C= XP_016867831.1:p.Thr392=
XM_024446800.1:c.1547C= XP_024302568.1:p.Thr516=
NM_000535.7:c.2108C= MANE Select NP_000526.2:p.Thr703=
NM_001322003.2:c.1703C= NP_001308932.1:p.Thr568=
NM_001322004.2:c.1703C= NP_001308933.1:p.Thr568=
NM_001322005.2:c.1703C= NP_001308934.1:p.Thr568=
NM_001322006.2:c.1952C= NP_001308935.1:p.Thr651=
NM_001322008.2:c.1790C= NP_001308937.1:p.Thr597=
NM_001322009.2:c.1703C= NP_001308938.1:p.Thr568=
NM_001322010.2:c.1547C= NP_001308939.1:p.Thr516=
NM_001322011.2:c.1175C= NP_001308940.1:p.Thr392=
NM_001322012.2:c.1175C= NP_001308941.1:p.Thr392=
NM_001322013.2:c.1535C= NP_001308942.1:p.Thr512=
NM_001322014.2:c.2108C= NP_001308943.1:p.Thr703=
NM_001322015.2:c.1799C= NP_001308944.1:p.Thr600=
NM_001322007.2:c.1790C= NP_001308936.1:p.Thr597=