Canonical Allele Identifier: CA1685225943

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986844C= , CM000669.2:g.5986844C=	GRCh38
NC_000007.13:g.6026475C= , CM000669.1:g.6026475C=	GRCh37
NC_000007.12:g.5993001C=	NCBI36
NG_008466.1:g.27263G= , LRG_161:g.27263G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1317G=	ENSP00000514615.2:n.*1317G=
ENST00000699840.2:c.1918G=	ENSP00000514638.2:p.Gly640=
ENST00000699930.2:c.1813G=	ENSP00000514695.2:p.Gly605=
ENST00000406569.8:c.1678+243G=	ENSP00000514464.1:n.1678+243G=
ENST00000644110.2:c.*1515G=	ENSP00000496392.2:n.*1515G=
ENST00000699752.1:c.1765G=	ENSP00000514561.1:p.Gly589=
ENST00000699753.1:c.*1342G=	ENSP00000514562.1:n.*1342G=
ENST00000699754.1:c.1723G=	ENSP00000514563.1:p.Gly575=
ENST00000699755.1:c.*1320G=	ENSP00000514564.1:n.*1320G=
ENST00000699756.1:c.*1508G=	ENSP00000514565.1:n.*1508G=
ENST00000699757.1:c.*1178G=	ENSP00000514566.1:n.*1178G=
ENST00000699758.1:c.*1178G=	ENSP00000514567.1:n.*1178G=
ENST00000699759.1:n.2775G=
ENST00000699760.1:c.1603G=	ENSP00000514568.1:p.Gly535=
ENST00000699761.1:c.1516G=	ENSP00000514569.1:p.Gly506=
ENST00000699762.1:c.1348G=	ENSP00000514570.1:p.Gly450=
ENST00000699763.1:c.*1011G=	ENSP00000514571.1:n.*1011G=
ENST00000699764.1:c.*239G=	ENSP00000514572.1:n.*239G=
ENST00000699765.1:c.*1017G=	ENSP00000514573.1:n.*1017G=
ENST00000699766.1:c.1921G=	ENSP00000514574.1:p.Gly641=
ENST00000699767.1:c.1921G=	ENSP00000514575.1:p.Gly641=
ENST00000699768.1:c.1921G=	ENSP00000514576.1:p.Gly641=
ENST00000699811.1:c.1516G=	ENSP00000514614.1:p.Gly506=
ENST00000699813.1:n.2034G=
ENST00000699814.1:c.1544G=
ENST00000699815.1:c.*1452G=	ENSP00000514616.1:n.*1452G=
ENST00000699816.1:c.*811G=	ENSP00000514617.1:n.*811G=
ENST00000699817.1:c.*1515G=	ENSP00000514618.1:n.*1515G=
ENST00000699818.1:c.1516G=	ENSP00000514619.1:p.Gly506=
ENST00000699819.1:c.*1078G=	ENSP00000514620.1:n.*1078G=
ENST00000699820.1:c.1144+2956G=	ENSP00000514621.1:n.1144+2956G=
ENST00000699821.1:c.1516G=	ENSP00000514622.1:p.Gly506=
ENST00000699822.1:c.*1373G=	ENSP00000514623.1:n.*1373G=
ENST00000699823.1:c.1516G=	ENSP00000514624.1:p.Gly506=
ENST00000699824.1:c.*1424G=	ENSP00000514625.1:n.*1424G=
ENST00000699825.1:c.1360G=	ENSP00000514626.1:p.Gly454=
ENST00000699826.1:c.*1320G=	ENSP00000514627.1:n.*1320G=
ENST00000699827.1:c.1753G=	ENSP00000514628.1:p.Gly585=
ENST00000699828.1:c.*1011G=	ENSP00000514629.1:n.*1011G=
ENST00000699833.1:n.3693G=
ENST00000699837.1:c.1516G=	ENSP00000514635.1:p.Gly506=
ENST00000699838.1:c.*1821G=	ENSP00000514636.1:n.*1821G=
ENST00000699839.1:c.2107G=	ENSP00000514637.1:p.Gly703=
ENST00000699916.1:c.*1178G=	ENSP00000514684.1:n.*1178G=
ENST00000699917.1:c.*1370G=	ENSP00000514685.1:n.*1370G=
ENST00000699918.1:c.*1422G=	ENSP00000514686.1:n.*1422G=
ENST00000699919.1:c.*1508G=	ENSP00000514687.1:n.*1508G=
ENST00000699920.1:c.*1557G=	ENSP00000514688.1:n.*1557G=
ENST00000699928.1:c.989-3853G=	ENSP00000514693.1:n.989-3853G=
ENST00000699951.1:c.*1017G=	ENSP00000514706.1:n.*1017G=
ENST00000699952.1:c.803+10482G=	ENSP00000514707.1:n.803+10482G=
ENST00000265849.12:c.1921G= MANE Select	ENSP00000265849.7:p.Gly641=
ENST00000642292.1:c.1516G=	ENSP00000495524.1:p.Gly506=
ENST00000642456.1:c.1516G=	ENSP00000493814.1:p.Gly506=
ENST00000643595.1:c.*1320G=	ENSP00000494497.1:n.*1320G=
ENST00000644110.1:c.1603G=	ENSP00000496392.1:p.Gly535=
ENST00000265849.11:c.1921G=	ENSP00000265849.7:p.Gly641=
ENST00000382321.5:c.804-3853G=	ENSP00000371758.4:n.804-3853G=
ENST00000406569.7:n.1678+243G=
ENST00000441476.6:c.1603G=	ENSP00000392843.2:p.Gly535=
ENST00000469652.1:n.63-3939G=
NM_000535.5:c.1921G= , LRG_161t1:c.1921G=	NP_000526.1:p.Gly641=
NR_003085.2:n.2003G=
XM_006715742.2:c.1915G=	XP_006715805.1:p.Gly639=
XM_006715744.2:c.988G=	XP_006715807.1:p.Gly330=
XM_011515427.1:c.1966G=	XP_011513729.1:p.Gly656=
XM_011515428.1:c.1810G=	XP_011513730.1:p.Gly604=
XM_011515429.1:c.1603G=	XP_011513731.1:p.Gly535=
XM_011515430.1:c.1603G=	XP_011513732.1:p.Gly535=
NM_000535.6:c.1921G=	NP_000526.2:p.Gly641=
NM_001322003.1:c.1516G=	NP_001308932.1:p.Gly506=
NM_001322004.1:c.1516G=	NP_001308933.1:p.Gly506=
NM_001322005.1:c.1516G=	NP_001308934.1:p.Gly506=
NM_001322006.1:c.1765G=	NP_001308935.1:p.Gly589=
NM_001322007.1:c.1603G=	NP_001308936.1:p.Gly535=
NM_001322008.1:c.1603G=	NP_001308937.1:p.Gly535=
NM_001322009.1:c.1516G=	NP_001308938.1:p.Gly506=
NM_001322010.1:c.1360G=	NP_001308939.1:p.Gly454=
NM_001322011.1:c.988G=	NP_001308940.1:p.Gly330=
NM_001322012.1:c.988G=	NP_001308941.1:p.Gly330=
NM_001322013.1:c.1348G=	NP_001308942.1:p.Gly450=
NM_001322014.1:c.1921G=	NP_001308943.1:p.Gly641=
NM_001322015.1:c.1612G=	NP_001308944.1:p.Gly538=
NR_136154.1:n.2008G=
XM_006715744.4:c.988G=	XP_006715807.1:p.Gly330=
XM_017012342.2:c.988G=	XP_016867831.1:p.Gly330=
XM_024446800.1:c.1360G=	XP_024302568.1:p.Gly454=
NM_000535.7:c.1921G= MANE Select	NP_000526.2:p.Gly641=
NM_001322003.2:c.1516G=	NP_001308932.1:p.Gly506=
NM_001322004.2:c.1516G=	NP_001308933.1:p.Gly506=
NM_001322005.2:c.1516G=	NP_001308934.1:p.Gly506=
NM_001322006.2:c.1765G=	NP_001308935.1:p.Gly589=
NM_001322008.2:c.1603G=	NP_001308937.1:p.Gly535=
NM_001322009.2:c.1516G=	NP_001308938.1:p.Gly506=
NM_001322010.2:c.1360G=	NP_001308939.1:p.Gly454=
NM_001322011.2:c.988G=	NP_001308940.1:p.Gly330=
NM_001322012.2:c.988G=	NP_001308941.1:p.Gly330=
NM_001322013.2:c.1348G=	NP_001308942.1:p.Gly450=
NM_001322014.2:c.1921G=	NP_001308943.1:p.Gly641=
NM_001322015.2:c.1612G=	NP_001308944.1:p.Gly538=
NM_001322007.2:c.1603G=	NP_001308936.1:p.Gly535=