Canonical Allele Identifier: CA1685230556

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987443T= , CM000669.2:g.5987443T=	GRCh38
NC_000007.13:g.6027074T= , CM000669.1:g.6027074T=	GRCh37
NC_000007.12:g.5993600T=	NCBI36
NG_008466.1:g.26664A= , LRG_161:g.26664A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*718A=	ENSP00000514615.2:n.*718A=
ENST00000699840.2:c.1319A=	ENSP00000514638.2:p.Glu440=
ENST00000699930.2:c.1214A=	ENSP00000514695.2:p.Glu405=
ENST00000406569.8:c.1322A=	ENSP00000514464.1:p.Glu441=
ENST00000644110.2:c.*916A=	ENSP00000496392.2:n.*916A=
ENST00000699752.1:c.1166A=	ENSP00000514561.1:p.Glu389=
ENST00000699753.1:c.*743A=	ENSP00000514562.1:n.*743A=
ENST00000699754.1:c.1124A=	ENSP00000514563.1:p.Glu375=
ENST00000699755.1:c.*721A=	ENSP00000514564.1:n.*721A=
ENST00000699756.1:c.*909A=	ENSP00000514565.1:n.*909A=
ENST00000699757.1:c.*579A=	ENSP00000514566.1:n.*579A=
ENST00000699758.1:c.*579A=	ENSP00000514567.1:n.*579A=
ENST00000699759.1:n.2176A=
ENST00000699760.1:c.1004A=	ENSP00000514568.1:p.Glu335=
ENST00000699761.1:c.917A=	ENSP00000514569.1:p.Glu306=
ENST00000699762.1:c.749A=	ENSP00000514570.1:p.Glu250=
ENST00000699763.1:c.*412A=	ENSP00000514571.1:n.*412A=
ENST00000699764.1:c.1322A=	ENSP00000514572.1:p.Glu441=
ENST00000699765.1:c.*418A=	ENSP00000514573.1:n.*418A=
ENST00000699766.1:c.1322A=	ENSP00000514574.1:p.Glu441=
ENST00000699767.1:c.1322A=	ENSP00000514575.1:p.Glu441=
ENST00000699768.1:c.1322A=	ENSP00000514576.1:p.Glu441=
ENST00000699811.1:c.917A=	ENSP00000514614.1:p.Glu306=
ENST00000699813.1:n.1435A=
ENST00000699814.1:c.945A=
ENST00000699815.1:c.*853A=	ENSP00000514616.1:n.*853A=
ENST00000699816.1:c.*212A=	ENSP00000514617.1:n.*212A=
ENST00000699817.1:c.*916A=	ENSP00000514618.1:n.*916A=
ENST00000699818.1:c.917A=	ENSP00000514619.1:p.Glu306=
ENST00000699819.1:c.*479A=	ENSP00000514620.1:n.*479A=
ENST00000699820.1:c.1144+2357A=	ENSP00000514621.1:n.1144+2357A=
ENST00000699821.1:c.917A=	ENSP00000514622.1:p.Glu306=
ENST00000699822.1:c.*774A=	ENSP00000514623.1:n.*774A=
ENST00000699823.1:c.917A=	ENSP00000514624.1:p.Glu306=
ENST00000699824.1:c.*825A=	ENSP00000514625.1:n.*825A=
ENST00000699825.1:c.761A=	ENSP00000514626.1:p.Glu254=
ENST00000699826.1:c.*721A=	ENSP00000514627.1:n.*721A=
ENST00000699827.1:c.1154A=	ENSP00000514628.1:p.Glu385=
ENST00000699828.1:c.*412A=	ENSP00000514629.1:n.*412A=
ENST00000699833.1:n.3094A=
ENST00000699837.1:c.917A=	ENSP00000514635.1:p.Glu306=
ENST00000699838.1:c.*1222A=	ENSP00000514636.1:n.*1222A=
ENST00000699839.1:c.1508A=	ENSP00000514637.1:p.Glu503=
ENST00000699916.1:c.*579A=	ENSP00000514684.1:n.*579A=
ENST00000699917.1:c.*771A=	ENSP00000514685.1:n.*771A=
ENST00000699918.1:c.*823A=	ENSP00000514686.1:n.*823A=
ENST00000699919.1:c.*909A=	ENSP00000514687.1:n.*909A=
ENST00000699920.1:c.*958A=	ENSP00000514688.1:n.*958A=
ENST00000699928.1:c.989-4452A=	ENSP00000514693.1:n.989-4452A=
ENST00000699929.1:c.*623A=	ENSP00000514694.1:n.*623A=
ENST00000699930.1:c.1214A=	ENSP00000514695.1:p.Glu405=
ENST00000699931.1:n.2750A=
ENST00000699951.1:c.*418A=	ENSP00000514706.1:n.*418A=
ENST00000699952.1:c.803+9883A=	ENSP00000514707.1:n.803+9883A=
ENST00000699953.1:c.*429A=	ENSP00000514708.1:n.*429A=
ENST00000699954.1:c.*623A=	ENSP00000514709.1:n.*623A=
ENST00000265849.12:c.1322A= MANE Select	ENSP00000265849.7:p.Glu441=
ENST00000642292.1:c.917A=	ENSP00000495524.1:p.Glu306=
ENST00000642456.1:c.917A=	ENSP00000493814.1:p.Glu306=
ENST00000643595.1:c.*721A=	ENSP00000494497.1:n.*721A=
ENST00000644110.1:c.1004A=	ENSP00000496392.1:p.Glu335=
ENST00000265849.11:c.1322A=	ENSP00000265849.7:p.Glu441=
ENST00000382321.5:c.804-4452A=	ENSP00000371758.4:n.804-4452A=
ENST00000406569.7:n.1322A=
ENST00000441476.6:c.1004A=	ENSP00000392843.2:p.Glu335=
ENST00000469652.1:n.63-4538A=
NM_000535.5:c.1322A= , LRG_161t1:c.1322A=	NP_000526.1:p.Glu441=
NR_003085.2:n.1404A=
XM_006715742.2:c.1316A=	XP_006715805.1:p.Glu439=
XM_006715744.2:c.389A=	XP_006715807.1:p.Glu130=
XM_011515427.1:c.1367A=	XP_011513729.1:p.Glu456=
XM_011515428.1:c.1211A=	XP_011513730.1:p.Glu404=
XM_011515429.1:c.1004A=	XP_011513731.1:p.Glu335=
XM_011515430.1:c.1004A=	XP_011513732.1:p.Glu335=
NM_000535.6:c.1322A=	NP_000526.2:p.Glu441=
NM_001322003.1:c.917A=	NP_001308932.1:p.Glu306=
NM_001322004.1:c.917A=	NP_001308933.1:p.Glu306=
NM_001322005.1:c.917A=	NP_001308934.1:p.Glu306=
NM_001322006.1:c.1166A=	NP_001308935.1:p.Glu389=
NM_001322007.1:c.1004A=	NP_001308936.1:p.Glu335=
NM_001322008.1:c.1004A=	NP_001308937.1:p.Glu335=
NM_001322009.1:c.917A=	NP_001308938.1:p.Glu306=
NM_001322010.1:c.761A=	NP_001308939.1:p.Glu254=
NM_001322011.1:c.389A=	NP_001308940.1:p.Glu130=
NM_001322012.1:c.389A=	NP_001308941.1:p.Glu130=
NM_001322013.1:c.749A=	NP_001308942.1:p.Glu250=
NM_001322014.1:c.1322A=	NP_001308943.1:p.Glu441=
NM_001322015.1:c.1013A=	NP_001308944.1:p.Glu338=
NR_136154.1:n.1409A=
XM_006715744.4:c.389A=	XP_006715807.1:p.Glu130=
XM_017012342.2:c.389A=	XP_016867831.1:p.Glu130=
XM_024446800.1:c.761A=	XP_024302568.1:p.Glu254=
NM_000535.7:c.1322A= MANE Select	NP_000526.2:p.Glu441=
NM_001322003.2:c.917A=	NP_001308932.1:p.Glu306=
NM_001322004.2:c.917A=	NP_001308933.1:p.Glu306=
NM_001322005.2:c.917A=	NP_001308934.1:p.Glu306=
NM_001322006.2:c.1166A=	NP_001308935.1:p.Glu389=
NM_001322008.2:c.1004A=	NP_001308937.1:p.Glu335=
NM_001322009.2:c.917A=	NP_001308938.1:p.Glu306=
NM_001322010.2:c.761A=	NP_001308939.1:p.Glu254=
NM_001322011.2:c.389A=	NP_001308940.1:p.Glu130=
NM_001322012.2:c.389A=	NP_001308941.1:p.Glu130=
NM_001322013.2:c.749A=	NP_001308942.1:p.Glu250=
NM_001322014.2:c.1322A=	NP_001308943.1:p.Glu441=
NM_001322015.2:c.1013A=	NP_001308944.1:p.Glu338=
NM_001322007.2:c.1004A=	NP_001308936.1:p.Glu335=