Canonical Allele Identifier: CA366742517

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987534C>A , CM000669.2:g.5987534C>A	GRCh38
NC_000007.13:g.6027165C>A , CM000669.1:g.6027165C>A	GRCh37
NC_000007.12:g.5993691C>A	NCBI36
NG_008466.1:g.26573G>T , LRG_161:g.26573G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000535.7:c.1231G>T MANE Select	NP_000526.2:p.Glu411Ter
ENST00000265849.12:c.1231G>T MANE Select	ENSP00000265849.7:p.Glu411Ter
NM_000535.5:c.1231G>T , LRG_161t1:c.1231G>T	NP_000526.1:p.Glu411Ter
NM_000535.6:c.1231G>T	NP_000526.2:p.Glu411Ter
NM_001322003.1:c.826G>T	NP_001308932.1:p.Glu276Ter
NM_001322003.2:c.826G>T	NP_001308932.1:p.Glu276Ter
NM_001322004.1:c.826G>T	NP_001308933.1:p.Glu276Ter
NM_001322004.2:c.826G>T	NP_001308933.1:p.Glu276Ter
NM_001322005.1:c.826G>T	NP_001308934.1:p.Glu276Ter
NM_001322005.2:c.826G>T	NP_001308934.1:p.Glu276Ter
NM_001322006.1:c.1075G>T	NP_001308935.1:p.Glu359Ter
NM_001322006.2:c.1075G>T	NP_001308935.1:p.Glu359Ter
NM_001322007.1:c.913G>T	NP_001308936.1:p.Glu305Ter
NM_001322007.2:c.913G>T	NP_001308936.1:p.Glu305Ter
NM_001322008.1:c.913G>T	NP_001308937.1:p.Glu305Ter
NM_001322008.2:c.913G>T	NP_001308937.1:p.Glu305Ter
NM_001322009.1:c.826G>T	NP_001308938.1:p.Glu276Ter
NM_001322009.2:c.826G>T	NP_001308938.1:p.Glu276Ter
NM_001322010.1:c.670G>T	NP_001308939.1:p.Glu224Ter
NM_001322010.2:c.670G>T	NP_001308939.1:p.Glu224Ter
NM_001322011.1:c.298G>T	NP_001308940.1:p.Glu100Ter
NM_001322011.2:c.298G>T	NP_001308940.1:p.Glu100Ter
NM_001322012.1:c.298G>T	NP_001308941.1:p.Glu100Ter
NM_001322012.2:c.298G>T	NP_001308941.1:p.Glu100Ter
NM_001322013.1:c.658G>T	NP_001308942.1:p.Glu220Ter
NM_001322013.2:c.658G>T	NP_001308942.1:p.Glu220Ter
NM_001322014.1:c.1231G>T	NP_001308943.1:p.Glu411Ter
NM_001322014.2:c.1231G>T	NP_001308943.1:p.Glu411Ter
NM_001322015.1:c.922G>T	NP_001308944.1:p.Glu308Ter
NM_001322015.2:c.922G>T	NP_001308944.1:p.Glu308Ter
NR_003085.2:n.1313G>T
NR_136154.1:n.1318G>T
ENST00000265849.11:c.1231G>T	ENSP00000265849.7:p.Glu411Ter
ENST00000382321.5:c.804-4543G>T	ENSP00000371758.4:n.804-4543G>T
ENST00000406569.7:n.1231G>T
ENST00000406569.8:c.1231G>T	ENSP00000514464.1:p.Glu411Ter
ENST00000441476.6:c.913G>T	ENSP00000392843.2:p.Glu305Ter
ENST00000469652.1:n.63-4629G>T
ENST00000642292.1:c.826G>T	ENSP00000495524.1:p.Glu276Ter
ENST00000642456.1:c.826G>T	ENSP00000493814.1:p.Glu276Ter
ENST00000643595.1:c.*630G>T	ENSP00000494497.1:n.*630G>T
ENST00000644110.1:c.913G>T	ENSP00000496392.1:p.Glu305Ter
ENST00000644110.2:c.*825G>T	ENSP00000496392.2:n.*825G>T
ENST00000699752.1:c.1075G>T	ENSP00000514561.1:p.Glu359Ter
ENST00000699753.1:c.*652G>T	ENSP00000514562.1:n.*652G>T
ENST00000699754.1:c.1033G>T	ENSP00000514563.1:p.Glu345Ter
ENST00000699755.1:c.*630G>T	ENSP00000514564.1:n.*630G>T
ENST00000699756.1:c.*818G>T	ENSP00000514565.1:n.*818G>T
ENST00000699757.1:c.*488G>T	ENSP00000514566.1:n.*488G>T
ENST00000699758.1:c.*488G>T	ENSP00000514567.1:n.*488G>T
ENST00000699759.1:n.2085G>T
ENST00000699760.1:c.913G>T	ENSP00000514568.1:p.Glu305Ter
ENST00000699761.1:c.826G>T	ENSP00000514569.1:p.Glu276Ter
ENST00000699762.1:c.658G>T	ENSP00000514570.1:p.Glu220Ter
ENST00000699763.1:c.*321G>T	ENSP00000514571.1:n.*321G>T
ENST00000699764.1:c.1231G>T	ENSP00000514572.1:p.Glu411Ter
ENST00000699765.1:c.*327G>T	ENSP00000514573.1:n.*327G>T
ENST00000699766.1:c.1231G>T	ENSP00000514574.1:p.Glu411Ter
ENST00000699767.1:c.1231G>T	ENSP00000514575.1:p.Glu411Ter
ENST00000699768.1:c.1231G>T	ENSP00000514576.1:p.Glu411Ter
ENST00000699811.1:c.826G>T	ENSP00000514614.1:p.Glu276Ter
ENST00000699813.1:n.1344G>T
ENST00000699814.1:c.854G>T
ENST00000699814.2:c.*627G>T	ENSP00000514615.2:n.*627G>T
ENST00000699815.1:c.*762G>T	ENSP00000514616.1:n.*762G>T
ENST00000699816.1:c.*121G>T	ENSP00000514617.1:n.*121G>T
ENST00000699817.1:c.*825G>T	ENSP00000514618.1:n.*825G>T
ENST00000699818.1:c.826G>T	ENSP00000514619.1:p.Glu276Ter
ENST00000699819.1:c.*388G>T	ENSP00000514620.1:n.*388G>T
ENST00000699820.1:c.1144+2266G>T	ENSP00000514621.1:n.1144+2266G>T
ENST00000699821.1:c.826G>T	ENSP00000514622.1:p.Glu276Ter
ENST00000699822.1:c.*683G>T	ENSP00000514623.1:n.*683G>T
ENST00000699823.1:c.826G>T	ENSP00000514624.1:p.Glu276Ter
ENST00000699824.1:c.*734G>T	ENSP00000514625.1:n.*734G>T
ENST00000699825.1:c.670G>T	ENSP00000514626.1:p.Glu224Ter
ENST00000699826.1:c.*630G>T	ENSP00000514627.1:n.*630G>T
ENST00000699827.1:c.1063G>T	ENSP00000514628.1:p.Glu355Ter
ENST00000699828.1:c.*321G>T	ENSP00000514629.1:n.*321G>T
ENST00000699829.1:c.*732G>T	ENSP00000514630.1:n.*732G>T
ENST00000699830.1:c.*630G>T	ENSP00000514631.1:n.*630G>T
ENST00000699833.1:n.3003G>T
ENST00000699837.1:c.826G>T	ENSP00000514635.1:p.Glu276Ter
ENST00000699838.1:c.*1131G>T	ENSP00000514636.1:n.*1131G>T
ENST00000699839.1:c.1417G>T	ENSP00000514637.1:p.Glu473Ter
ENST00000699840.1:c.1228G>T	ENSP00000514638.1:p.Glu410Ter
ENST00000699840.2:c.1228G>T	ENSP00000514638.2:p.Glu410Ter
ENST00000699916.1:c.*488G>T	ENSP00000514684.1:n.*488G>T
ENST00000699917.1:c.*680G>T	ENSP00000514685.1:n.*680G>T
ENST00000699918.1:c.*732G>T	ENSP00000514686.1:n.*732G>T
ENST00000699919.1:c.*818G>T	ENSP00000514687.1:n.*818G>T
ENST00000699920.1:c.*867G>T	ENSP00000514688.1:n.*867G>T
ENST00000699928.1:c.988+4439G>T	ENSP00000514693.1:n.988+4439G>T
ENST00000699929.1:c.*532G>T	ENSP00000514694.1:n.*532G>T
ENST00000699930.1:c.1123G>T	ENSP00000514695.1:p.Glu375Ter
ENST00000699930.2:c.1123G>T	ENSP00000514695.2:p.Glu375Ter
ENST00000699931.1:n.2659G>T
ENST00000699932.1:c.*449G>T	ENSP00000514696.1:n.*449G>T
ENST00000699951.1:c.*327G>T	ENSP00000514706.1:n.*327G>T
ENST00000699952.1:c.803+9792G>T	ENSP00000514707.1:n.803+9792G>T
ENST00000699953.1:c.*338G>T	ENSP00000514708.1:n.*338G>T
ENST00000699954.1:c.*532G>T	ENSP00000514709.1:n.*532G>T
XM_006715742.2:c.1225G>T	XP_006715805.1:p.Glu409Ter
XM_006715744.2:c.298G>T	XP_006715807.1:p.Glu100Ter
XM_006715744.4:c.298G>T	XP_006715807.1:p.Glu100Ter
XM_011515427.1:c.1276G>T	XP_011513729.1:p.Glu426Ter
XM_011515428.1:c.1120G>T	XP_011513730.1:p.Glu374Ter
XM_011515429.1:c.913G>T	XP_011513731.1:p.Glu305Ter
XM_011515430.1:c.913G>T	XP_011513732.1:p.Glu305Ter
XM_017012342.2:c.298G>T	XP_016867831.1:p.Glu100Ter
XM_024446800.1:c.670G>T	XP_024302568.1:p.Glu224Ter