Canonical Allele Identifier: CA009572

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987393T>G , CM000669.2:g.5987393T>G	GRCh38
NC_000007.13:g.6027024T>G , CM000669.1:g.6027024T>G	GRCh37
NC_000007.12:g.5993550T>G	NCBI36
NG_008466.1:g.26714A>C , LRG_161:g.26714A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000535.7:c.1372A>C MANE Select	NP_000526.2:p.Thr458Pro
ENST00000265849.12:c.1372A>C MANE Select	ENSP00000265849.7:p.Thr458Pro
NM_000535.5:c.1372A>C , LRG_161t1:c.1372A>C	NP_000526.1:p.Thr458Pro
NM_000535.6:c.1372A>C	NP_000526.2:p.Thr458Pro
NM_001322003.1:c.967A>C	NP_001308932.1:p.Thr323Pro
NM_001322003.2:c.967A>C	NP_001308932.1:p.Thr323Pro
NM_001322004.1:c.967A>C	NP_001308933.1:p.Thr323Pro
NM_001322004.2:c.967A>C	NP_001308933.1:p.Thr323Pro
NM_001322005.1:c.967A>C	NP_001308934.1:p.Thr323Pro
NM_001322005.2:c.967A>C	NP_001308934.1:p.Thr323Pro
NM_001322006.1:c.1216A>C	NP_001308935.1:p.Thr406Pro
NM_001322006.2:c.1216A>C	NP_001308935.1:p.Thr406Pro
NM_001322007.1:c.1054A>C	NP_001308936.1:p.Thr352Pro
NM_001322007.2:c.1054A>C	NP_001308936.1:p.Thr352Pro
NM_001322008.1:c.1054A>C	NP_001308937.1:p.Thr352Pro
NM_001322008.2:c.1054A>C	NP_001308937.1:p.Thr352Pro
NM_001322009.1:c.967A>C	NP_001308938.1:p.Thr323Pro
NM_001322009.2:c.967A>C	NP_001308938.1:p.Thr323Pro
NM_001322010.1:c.811A>C	NP_001308939.1:p.Thr271Pro
NM_001322010.2:c.811A>C	NP_001308939.1:p.Thr271Pro
NM_001322011.1:c.439A>C	NP_001308940.1:p.Thr147Pro
NM_001322011.2:c.439A>C	NP_001308940.1:p.Thr147Pro
NM_001322012.1:c.439A>C	NP_001308941.1:p.Thr147Pro
NM_001322012.2:c.439A>C	NP_001308941.1:p.Thr147Pro
NM_001322013.1:c.799A>C	NP_001308942.1:p.Thr267Pro
NM_001322013.2:c.799A>C	NP_001308942.1:p.Thr267Pro
NM_001322014.1:c.1372A>C	NP_001308943.1:p.Thr458Pro
NM_001322014.2:c.1372A>C	NP_001308943.1:p.Thr458Pro
NM_001322015.1:c.1063A>C	NP_001308944.1:p.Thr355Pro
NM_001322015.2:c.1063A>C	NP_001308944.1:p.Thr355Pro
NR_003085.2:n.1454A>C
NR_136154.1:n.1459A>C
ENST00000265849.11:c.1372A>C	ENSP00000265849.7:p.Thr458Pro
ENST00000382321.5:c.804-4402A>C	ENSP00000371758.4:n.804-4402A>C
ENST00000406569.7:n.1372A>C
ENST00000406569.8:c.1372A>C	ENSP00000514464.1:p.Thr458Pro
ENST00000441476.6:c.1054A>C	ENSP00000392843.2:p.Thr352Pro
ENST00000469652.1:n.63-4488A>C
ENST00000642292.1:c.967A>C	ENSP00000495524.1:p.Thr323Pro
ENST00000642456.1:c.967A>C	ENSP00000493814.1:p.Thr323Pro
ENST00000643595.1:c.*771A>C	ENSP00000494497.1:n.*771A>C
ENST00000644110.1:c.1054A>C	ENSP00000496392.1:p.Thr352Pro
ENST00000644110.2:c.*966A>C	ENSP00000496392.2:n.*966A>C
ENST00000699752.1:c.1216A>C	ENSP00000514561.1:p.Thr406Pro
ENST00000699753.1:c.*793A>C	ENSP00000514562.1:n.*793A>C
ENST00000699754.1:c.1174A>C	ENSP00000514563.1:p.Thr392Pro
ENST00000699755.1:c.*771A>C	ENSP00000514564.1:n.*771A>C
ENST00000699756.1:c.*959A>C	ENSP00000514565.1:n.*959A>C
ENST00000699757.1:c.*629A>C	ENSP00000514566.1:n.*629A>C
ENST00000699758.1:c.*629A>C	ENSP00000514567.1:n.*629A>C
ENST00000699759.1:n.2226A>C
ENST00000699760.1:c.1054A>C	ENSP00000514568.1:p.Thr352Pro
ENST00000699761.1:c.967A>C	ENSP00000514569.1:p.Thr323Pro
ENST00000699762.1:c.799A>C	ENSP00000514570.1:p.Thr267Pro
ENST00000699763.1:c.*462A>C	ENSP00000514571.1:n.*462A>C
ENST00000699764.1:c.1372A>C	ENSP00000514572.1:p.Thr458Pro
ENST00000699765.1:c.*468A>C	ENSP00000514573.1:n.*468A>C
ENST00000699766.1:c.1372A>C	ENSP00000514574.1:p.Thr458Pro
ENST00000699767.1:c.1372A>C	ENSP00000514575.1:p.Thr458Pro
ENST00000699768.1:c.1372A>C	ENSP00000514576.1:p.Thr458Pro
ENST00000699811.1:c.967A>C	ENSP00000514614.1:p.Thr323Pro
ENST00000699813.1:n.1485A>C
ENST00000699814.1:c.995A>C
ENST00000699814.2:c.*768A>C	ENSP00000514615.2:n.*768A>C
ENST00000699815.1:c.*903A>C	ENSP00000514616.1:n.*903A>C
ENST00000699816.1:c.*262A>C	ENSP00000514617.1:n.*262A>C
ENST00000699817.1:c.*966A>C	ENSP00000514618.1:n.*966A>C
ENST00000699818.1:c.967A>C	ENSP00000514619.1:p.Thr323Pro
ENST00000699819.1:c.*529A>C	ENSP00000514620.1:n.*529A>C
ENST00000699820.1:c.1144+2407A>C	ENSP00000514621.1:n.1144+2407A>C
ENST00000699821.1:c.967A>C	ENSP00000514622.1:p.Thr323Pro
ENST00000699822.1:c.*824A>C	ENSP00000514623.1:n.*824A>C
ENST00000699823.1:c.967A>C	ENSP00000514624.1:p.Thr323Pro
ENST00000699824.1:c.*875A>C	ENSP00000514625.1:n.*875A>C
ENST00000699825.1:c.811A>C	ENSP00000514626.1:p.Thr271Pro
ENST00000699826.1:c.*771A>C	ENSP00000514627.1:n.*771A>C
ENST00000699827.1:c.1204A>C	ENSP00000514628.1:p.Thr402Pro
ENST00000699828.1:c.*462A>C	ENSP00000514629.1:n.*462A>C
ENST00000699833.1:n.3144A>C
ENST00000699837.1:c.967A>C	ENSP00000514635.1:p.Thr323Pro
ENST00000699838.1:c.*1272A>C	ENSP00000514636.1:n.*1272A>C
ENST00000699839.1:c.1558A>C	ENSP00000514637.1:p.Thr520Pro
ENST00000699840.2:c.1369A>C	ENSP00000514638.2:p.Thr457Pro
ENST00000699916.1:c.*629A>C	ENSP00000514684.1:n.*629A>C
ENST00000699917.1:c.*821A>C	ENSP00000514685.1:n.*821A>C
ENST00000699918.1:c.*873A>C	ENSP00000514686.1:n.*873A>C
ENST00000699919.1:c.*959A>C	ENSP00000514687.1:n.*959A>C
ENST00000699920.1:c.*1008A>C	ENSP00000514688.1:n.*1008A>C
ENST00000699928.1:c.989-4402A>C	ENSP00000514693.1:n.989-4402A>C
ENST00000699929.1:c.*673A>C	ENSP00000514694.1:n.*673A>C
ENST00000699930.1:c.1264A>C	ENSP00000514695.1:p.Thr422Pro
ENST00000699930.2:c.1264A>C	ENSP00000514695.2:p.Thr422Pro
ENST00000699931.1:n.2800A>C
ENST00000699951.1:c.*468A>C	ENSP00000514706.1:n.*468A>C
ENST00000699952.1:c.803+9933A>C	ENSP00000514707.1:n.803+9933A>C
ENST00000699953.1:c.*479A>C	ENSP00000514708.1:n.*479A>C
ENST00000699954.1:c.*673A>C	ENSP00000514709.1:n.*673A>C
XM_006715742.2:c.1366A>C	XP_006715805.1:p.Thr456Pro
XM_006715744.2:c.439A>C	XP_006715807.1:p.Thr147Pro
XM_006715744.4:c.439A>C	XP_006715807.1:p.Thr147Pro
XM_011515427.1:c.1417A>C	XP_011513729.1:p.Thr473Pro
XM_011515428.1:c.1261A>C	XP_011513730.1:p.Thr421Pro
XM_011515429.1:c.1054A>C	XP_011513731.1:p.Thr352Pro
XM_011515430.1:c.1054A>C	XP_011513732.1:p.Thr352Pro
XM_017012342.2:c.439A>C	XP_016867831.1:p.Thr147Pro
XM_024446800.1:c.811A>C	XP_024302568.1:p.Thr271Pro