Canonical Allele Identifier: CA1685217631

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982926A= , CM000669.2:g.5982926A=	GRCh38
NC_000007.13:g.6022557A= , CM000669.1:g.6022557A=	GRCh37
NC_000007.12:g.5989083A=	NCBI36
NG_008466.1:g.31181T= , LRG_161:g.31181T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1468T=	ENSP00000514615.2:n.*1468T=
ENST00000699840.2:c.2069T=	ENSP00000514638.2:p.Leu690=
ENST00000699930.2:c.1964T=	ENSP00000514695.2:p.Leu655=
ENST00000406569.8:c.1678+4161T=	ENSP00000514464.1:n.1678+4161T=
ENST00000644110.2:c.*1666T=	ENSP00000496392.2:n.*1666T=
ENST00000699752.1:c.1916T=	ENSP00000514561.1:p.Leu639=
ENST00000699753.1:c.*1493T=	ENSP00000514562.1:n.*1493T=
ENST00000699754.1:c.1874T=	ENSP00000514563.1:p.Leu625=
ENST00000699755.1:c.*1471T=	ENSP00000514564.1:n.*1471T=
ENST00000699756.1:c.*1659T=	ENSP00000514565.1:n.*1659T=
ENST00000699757.1:c.*1329T=	ENSP00000514566.1:n.*1329T=
ENST00000699758.1:c.*1329T=	ENSP00000514567.1:n.*1329T=
ENST00000699759.1:n.2926T=
ENST00000699760.1:c.1754T=	ENSP00000514568.1:p.Leu585=
ENST00000699761.1:c.1667T=	ENSP00000514569.1:p.Leu556=
ENST00000699762.1:c.1499T=	ENSP00000514570.1:p.Leu500=
ENST00000699763.1:c.*1162T=	ENSP00000514571.1:n.*1162T=
ENST00000699764.1:c.*390T=	ENSP00000514572.1:n.*390T=
ENST00000699765.1:c.*1168T=	ENSP00000514573.1:n.*1168T=
ENST00000699766.1:c.2072T=	ENSP00000514574.1:p.Leu691=
ENST00000699767.1:c.2072T=	ENSP00000514575.1:p.Leu691=
ENST00000699768.1:c.2072T=	ENSP00000514576.1:p.Leu691=
ENST00000699811.1:c.1667T=	ENSP00000514614.1:p.Leu556=
ENST00000699813.1:n.2185T=
ENST00000699814.1:c.1695T=
ENST00000699815.1:c.*1603T=	ENSP00000514616.1:n.*1603T=
ENST00000699816.1:c.*962T=	ENSP00000514617.1:n.*962T=
ENST00000699817.1:c.*1666T=	ENSP00000514618.1:n.*1666T=
ENST00000699818.1:c.1667T=	ENSP00000514619.1:p.Leu556=
ENST00000699819.1:c.*1229T=	ENSP00000514620.1:n.*1229T=
ENST00000699820.1:c.*10T=	ENSP00000514621.1:n.*10T=
ENST00000699821.1:c.1667T=	ENSP00000514622.1:p.Leu556=
ENST00000699822.1:c.*1524T=	ENSP00000514623.1:n.*1524T=
ENST00000699823.1:c.1667T=	ENSP00000514624.1:p.Leu556=
ENST00000699824.1:c.*1575T=	ENSP00000514625.1:n.*1575T=
ENST00000699825.1:c.1511T=	ENSP00000514626.1:p.Leu504=
ENST00000699826.1:c.*1471T=	ENSP00000514627.1:n.*1471T=
ENST00000699827.1:c.1904T=	ENSP00000514628.1:p.Leu635=
ENST00000699828.1:c.*1162T=	ENSP00000514629.1:n.*1162T=
ENST00000699833.1:n.3844T=
ENST00000699837.1:c.1667T=	ENSP00000514635.1:p.Leu556=
ENST00000699838.1:c.*1972T=	ENSP00000514636.1:n.*1972T=
ENST00000699839.1:c.2258T=	ENSP00000514637.1:p.Leu753=
ENST00000699916.1:c.*1329T=	ENSP00000514684.1:n.*1329T=
ENST00000699917.1:c.*1521T=	ENSP00000514685.1:n.*1521T=
ENST00000699918.1:c.*1573T=	ENSP00000514686.1:n.*1573T=
ENST00000699919.1:c.*1659T=	ENSP00000514687.1:n.*1659T=
ENST00000699920.1:c.*1708T=	ENSP00000514688.1:n.*1708T=
ENST00000699928.1:c.*10T=	ENSP00000514693.1:n.*10T=
ENST00000699951.1:c.*1168T=	ENSP00000514706.1:n.*1168T=
ENST00000699952.1:c.804-9384T=	ENSP00000514707.1:n.804-9384T=
ENST00000265849.12:c.2072T= MANE Select	ENSP00000265849.7:p.Leu691=
ENST00000642292.1:c.1667T=	ENSP00000495524.1:p.Leu556=
ENST00000642456.1:c.1667T=	ENSP00000493814.1:p.Leu556=
ENST00000643595.1:c.*1471T=	ENSP00000494497.1:n.*1471T=
ENST00000644110.1:c.1754T=	ENSP00000496392.1:p.Leu585=
ENST00000265849.11:c.2072T=	ENSP00000265849.7:p.Leu691=
ENST00000382321.5:c.869T=	ENSP00000371758.4:p.Leu290=
ENST00000406569.7:n.1678+4161T=
ENST00000441476.6:c.1754T=	ENSP00000392843.2:p.Leu585=
ENST00000469652.1:n.63-21T=
NM_000535.5:c.2072T= , LRG_161t1:c.2072T=	NP_000526.1:p.Leu691=
NR_003085.2:n.2154T=
XM_006715742.2:c.2066T=	XP_006715805.1:p.Leu689=
XM_006715744.2:c.1139T=	XP_006715807.1:p.Leu380=
XM_011515427.1:c.2117T=	XP_011513729.1:p.Leu706=
XM_011515428.1:c.1961T=	XP_011513730.1:p.Leu654=
XM_011515429.1:c.1754T=	XP_011513731.1:p.Leu585=
XM_011515430.1:c.1754T=	XP_011513732.1:p.Leu585=
NM_000535.6:c.2072T=	NP_000526.2:p.Leu691=
NM_001322003.1:c.1667T=	NP_001308932.1:p.Leu556=
NM_001322004.1:c.1667T=	NP_001308933.1:p.Leu556=
NM_001322005.1:c.1667T=	NP_001308934.1:p.Leu556=
NM_001322006.1:c.1916T=	NP_001308935.1:p.Leu639=
NM_001322007.1:c.1754T=	NP_001308936.1:p.Leu585=
NM_001322008.1:c.1754T=	NP_001308937.1:p.Leu585=
NM_001322009.1:c.1667T=	NP_001308938.1:p.Leu556=
NM_001322010.1:c.1511T=	NP_001308939.1:p.Leu504=
NM_001322011.1:c.1139T=	NP_001308940.1:p.Leu380=
NM_001322012.1:c.1139T=	NP_001308941.1:p.Leu380=
NM_001322013.1:c.1499T=	NP_001308942.1:p.Leu500=
NM_001322014.1:c.2072T=	NP_001308943.1:p.Leu691=
NM_001322015.1:c.1763T=	NP_001308944.1:p.Leu588=
NR_136154.1:n.2159T=
XM_006715744.4:c.1139T=	XP_006715807.1:p.Leu380=
XM_017012342.2:c.1139T=	XP_016867831.1:p.Leu380=
XM_024446800.1:c.1511T=	XP_024302568.1:p.Leu504=
NM_000535.7:c.2072T= MANE Select	NP_000526.2:p.Leu691=
NM_001322003.2:c.1667T=	NP_001308932.1:p.Leu556=
NM_001322004.2:c.1667T=	NP_001308933.1:p.Leu556=
NM_001322005.2:c.1667T=	NP_001308934.1:p.Leu556=
NM_001322006.2:c.1916T=	NP_001308935.1:p.Leu639=
NM_001322008.2:c.1754T=	NP_001308937.1:p.Leu585=
NM_001322009.2:c.1667T=	NP_001308938.1:p.Leu556=
NM_001322010.2:c.1511T=	NP_001308939.1:p.Leu504=
NM_001322011.2:c.1139T=	NP_001308940.1:p.Leu380=
NM_001322012.2:c.1139T=	NP_001308941.1:p.Leu380=
NM_001322013.2:c.1499T=	NP_001308942.1:p.Leu500=
NM_001322014.2:c.2072T=	NP_001308943.1:p.Leu691=
NM_001322015.2:c.1763T=	NP_001308944.1:p.Leu588=
NM_001322007.2:c.1754T=	NP_001308936.1:p.Leu585=