Canonical Allele Identifier: CA1685249631

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977319_5977332delinsTGCTGGGATTAGAG , CM000669.2:g.5977319_5977332delinsTGCTGGGATTAGAG	GRCh38
NC_000007.13:g.6016950_6016963delinsTGCTGGGATTAGAG , CM000669.1:g.6016950_6016963delinsTGCTGGGATTAGAG	GRCh37
NC_000007.12:g.5983476_5983489delinsTGCTGGGATTAGAG	NCBI36
NG_008466.1:g.36775_36788delinsCTCTAATCCCAGCA , LRG_161:g.36775_36788delinsCTCTAATCCCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1841+256_*1841+269delinsCTCTAATCCCAGCA	ENSP00000514615.2:n.*1841+256_*1841+269delinsCTCTAATCCCAGCA
ENST00000699840.2:c.2442+256_2442+269delinsCTCTAATCCCAGCA	ENSP00000514638.2:n.2442+256_2442+269delinsCTCTAATCCCAGCA
ENST00000699930.2:c.2337+256_2337+269delinsCTCTAATCCCAGCA	ENSP00000514695.2:n.2337+256_2337+269delinsCTCTAATCCCAGCA
ENST00000406569.8:c.1805+256_1805+269delinsCTCTAATCCCAGCA	ENSP00000514464.1:n.1805+256_1805+269delinsCTCTAATCCCAGCA
ENST00000644110.2:c.*2039+256_*2039+269delinsCTCTAATCCCAGCA	ENSP00000496392.2:n.*2039+256_*2039+269delinsCTCTAATCCCAGCA
ENST00000699752.1:c.2289+256_2289+269delinsCTCTAATCCCAGCA	ENSP00000514561.1:n.2289+256_2289+269delinsCTCTAATCCCAGCA
ENST00000699753.1:c.*1866+256_*1866+269delinsCTCTAATCCCAGCA	ENSP00000514562.1:n.*1866+256_*1866+269delinsCTCTAATCCCAGCA
ENST00000699754.1:c.2247+256_2247+269delinsCTCTAATCCCAGCA	ENSP00000514563.1:n.2247+256_2247+269delinsCTCTAATCCCAGCA
ENST00000699755.1:c.*1844+256_*1844+269delinsCTCTAATCCCAGCA	ENSP00000514564.1:n.*1844+256_*1844+269delinsCTCTAATCCCAGCA
ENST00000699756.1:c.*2032+256_*2032+269delinsCTCTAATCCCAGCA	ENSP00000514565.1:n.*2032+256_*2032+269delinsCTCTAATCCCAGCA
ENST00000699757.1:c.*1702+256_*1702+269delinsCTCTAATCCCAGCA	ENSP00000514566.1:n.*1702+256_*1702+269delinsCTCTAATCCCAGCA
ENST00000699758.1:c.*1702+256_*1702+269delinsCTCTAATCCCAGCA	ENSP00000514567.1:n.*1702+256_*1702+269delinsCTCTAATCCCAGCA
ENST00000699759.1:n.3299+256_3299+269delinsCTCTAATCCCAGCA
ENST00000699760.1:c.2127+256_2127+269delinsCTCTAATCCCAGCA	ENSP00000514568.1:n.2127+256_2127+269delinsCTCTAATCCCAGCA
ENST00000699761.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	ENSP00000514569.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
ENST00000699762.1:c.1872+256_1872+269delinsCTCTAATCCCAGCA	ENSP00000514570.1:n.1872+256_1872+269delinsCTCTAATCCCAGCA
ENST00000699763.1:c.*1535+256_*1535+269delinsCTCTAATCCCAGCA	ENSP00000514571.1:n.*1535+256_*1535+269delinsCTCTAATCCCAGCA
ENST00000699764.1:c.*763+256_*763+269delinsCTCTAATCCCAGCA	ENSP00000514572.1:n.*763+256_*763+269delinsCTCTAATCCCAGCA
ENST00000699765.1:c.*1440+256_*1440+269delinsCTCTAATCCCAGCA	ENSP00000514573.1:n.*1440+256_*1440+269delinsCTCTAATCCCAGCA
ENST00000699766.1:c.2478+256_2478+269delinsCTCTAATCCCAGCA	ENSP00000514574.1:n.2478+256_2478+269delinsCTCTAATCCCAGCA
ENST00000699767.1:c.*86+256_*86+269delinsCTCTAATCCCAGCA	ENSP00000514575.1:n.*86+256_*86+269delinsCTCTAATCCCAGCA
ENST00000699768.1:c.2301+256_2301+269delinsCTCTAATCCCAGCA	ENSP00000514576.1:n.2301+256_2301+269delinsCTCTAATCCCAGCA
ENST00000699811.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	ENSP00000514614.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
ENST00000699813.1:n.2558+256_2558+269delinsCTCTAATCCCAGCA
ENST00000699814.1:c.2068+256_2068+269delinsCTCTAATCCCAGCA
ENST00000699815.1:c.*1976+256_*1976+269delinsCTCTAATCCCAGCA	ENSP00000514616.1:n.*1976+256_*1976+269delinsCTCTAATCCCAGCA
ENST00000699816.1:c.*1335+256_*1335+269delinsCTCTAATCCCAGCA	ENSP00000514617.1:n.*1335+256_*1335+269delinsCTCTAATCCCAGCA
ENST00000699817.1:c.*2039+256_*2039+269delinsCTCTAATCCCAGCA	ENSP00000514618.1:n.*2039+256_*2039+269delinsCTCTAATCCCAGCA
ENST00000699818.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	ENSP00000514619.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
ENST00000699819.1:c.*1602+256_*1602+269delinsCTCTAATCCCAGCA	ENSP00000514620.1:n.*1602+256_*1602+269delinsCTCTAATCCCAGCA
ENST00000699820.1:c.*383+256_*383+269delinsCTCTAATCCCAGCA	ENSP00000514621.1:n.*383+256_*383+269delinsCTCTAATCCCAGCA
ENST00000699821.1:c.2073+256_2073+269delinsCTCTAATCCCAGCA	ENSP00000514622.1:n.2073+256_2073+269delinsCTCTAATCCCAGCA
ENST00000699822.1:c.*1897+256_*1897+269delinsCTCTAATCCCAGCA	ENSP00000514623.1:n.*1897+256_*1897+269delinsCTCTAATCCCAGCA
ENST00000699823.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	ENSP00000514624.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
ENST00000699824.1:c.*1948+256_*1948+269delinsCTCTAATCCCAGCA	ENSP00000514625.1:n.*1948+256_*1948+269delinsCTCTAATCCCAGCA
ENST00000699825.1:c.1884+256_1884+269delinsCTCTAATCCCAGCA	ENSP00000514626.1:n.1884+256_1884+269delinsCTCTAATCCCAGCA
ENST00000699826.1:c.*1844+256_*1844+269delinsCTCTAATCCCAGCA	ENSP00000514627.1:n.*1844+256_*1844+269delinsCTCTAATCCCAGCA
ENST00000699827.1:c.2277+256_2277+269delinsCTCTAATCCCAGCA	ENSP00000514628.1:n.2277+256_2277+269delinsCTCTAATCCCAGCA
ENST00000699828.1:c.*1535+256_*1535+269delinsCTCTAATCCCAGCA	ENSP00000514629.1:n.*1535+256_*1535+269delinsCTCTAATCCCAGCA
ENST00000699833.1:n.4217+256_4217+269delinsCTCTAATCCCAGCA
ENST00000699837.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	ENSP00000514635.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
ENST00000699838.1:c.*2345+256_*2345+269delinsCTCTAATCCCAGCA	ENSP00000514636.1:n.*2345+256_*2345+269delinsCTCTAATCCCAGCA
ENST00000699839.1:c.2631+256_2631+269delinsCTCTAATCCCAGCA	ENSP00000514637.1:n.2631+256_2631+269delinsCTCTAATCCCAGCA
ENST00000699916.1:c.*1702+256_*1702+269delinsCTCTAATCCCAGCA	ENSP00000514684.1:n.*1702+256_*1702+269delinsCTCTAATCCCAGCA
ENST00000699917.1:c.*1894+256_*1894+269delinsCTCTAATCCCAGCA	ENSP00000514685.1:n.*1894+256_*1894+269delinsCTCTAATCCCAGCA
ENST00000699918.1:c.*1946+256_*1946+269delinsCTCTAATCCCAGCA	ENSP00000514686.1:n.*1946+256_*1946+269delinsCTCTAATCCCAGCA
ENST00000699919.1:c.*2032+256_*2032+269delinsCTCTAATCCCAGCA	ENSP00000514687.1:n.*2032+256_*2032+269delinsCTCTAATCCCAGCA
ENST00000699920.1:c.*2081+256_*2081+269delinsCTCTAATCCCAGCA	ENSP00000514688.1:n.*2081+256_*2081+269delinsCTCTAATCCCAGCA
ENST00000699928.1:c.*383+256_*383+269delinsCTCTAATCCCAGCA	ENSP00000514693.1:n.*383+256_*383+269delinsCTCTAATCCCAGCA
ENST00000699951.1:c.*1498+256_*1498+269delinsCTCTAATCCCAGCA	ENSP00000514706.1:n.*1498+256_*1498+269delinsCTCTAATCCCAGCA
ENST00000699952.1:c.804-3790_804-3777delinsCTCTAATCCCAGCA	ENSP00000514707.1:n.804-3790_804-3777delinsCTCTAATCCCAGCA
ENST00000265849.12:c.2445+256_2445+269delinsCTCTAATCCCAGCA MANE Select	ENSP00000265849.7:n.2445+256_2445+269delinsCTCTAATCCCAGCA
ENST00000642292.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	ENSP00000495524.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
ENST00000642456.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	ENSP00000493814.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
ENST00000643595.1:c.*1844+256_*1844+269delinsCTCTAATCCCAGCA	ENSP00000494497.1:n.*1844+256_*1844+269delinsCTCTAATCCCAGCA
ENST00000644110.1:c.2127+256_2127+269delinsCTCTAATCCCAGCA	ENSP00000496392.1:n.2127+256_2127+269delinsCTCTAATCCCAGCA
ENST00000265849.11:c.2445+256_2445+269delinsCTCTAATCCCAGCA	ENSP00000265849.7:n.2445+256_2445+269delinsCTCTAATCCCAGCA
ENST00000382321.5:c.1242+256_1242+269delinsCTCTAATCCCAGCA	ENSP00000371758.4:n.1242+256_1242+269delinsCTCTAATCCCAGCA
ENST00000441476.6:c.2127+256_2127+269delinsCTCTAATCCCAGCA	ENSP00000392843.2:n.2127+256_2127+269delinsCTCTAATCCCAGCA
NM_000535.5:c.2445+256_2445+269delinsCTCTAATCCCAGCA , LRG_161t1:c.2445+256_2445+269delinsCTCTAATCCCAGCA	NP_000526.1:n.2445+256_2445+269delinsCTCTAATCCCAGCA
NR_003085.2:n.2527+256_2527+269delinsCTCTAATCCCAGCA
XM_006715742.2:c.2439+256_2439+269delinsCTCTAATCCCAGCA	XP_006715805.1:n.2439+256_2439+269delinsCTCTAATCCCAGCA
XM_006715744.2:c.1512+256_1512+269delinsCTCTAATCCCAGCA	XP_006715807.1:n.1512+256_1512+269delinsCTCTAATCCCAGCA
XM_011515427.1:c.2490+256_2490+269delinsCTCTAATCCCAGCA	XP_011513729.1:n.2490+256_2490+269delinsCTCTAATCCCAGCA
XM_011515428.1:c.2334+256_2334+269delinsCTCTAATCCCAGCA	XP_011513730.1:n.2334+256_2334+269delinsCTCTAATCCCAGCA
XM_011515429.1:c.2127+256_2127+269delinsCTCTAATCCCAGCA	XP_011513731.1:n.2127+256_2127+269delinsCTCTAATCCCAGCA
XM_011515430.1:c.2127+256_2127+269delinsCTCTAATCCCAGCA	XP_011513732.1:n.2127+256_2127+269delinsCTCTAATCCCAGCA
NM_000535.6:c.2445+256_2445+269delinsCTCTAATCCCAGCA	NP_000526.2:n.2445+256_2445+269delinsCTCTAATCCCAGCA
NM_001322003.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	NP_001308932.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
NM_001322004.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	NP_001308933.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
NM_001322005.1:c.2040+256_2040+269delinsCTCTAATCCCAGCA	NP_001308934.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
NM_001322006.1:c.2289+256_2289+269delinsCTCTAATCCCAGCA	NP_001308935.1:n.2289+256_2289+269delinsCTCTAATCCCAGCA
NM_001322007.1:c.2127+256_2127+269delinsCTCTAATCCCAGCA	NP_001308936.1:n.2127+256_2127+269delinsCTCTAATCCCAGCA
NM_001322008.1:c.2127+256_2127+269delinsCTCTAATCCCAGCA	NP_001308937.1:n.2127+256_2127+269delinsCTCTAATCCCAGCA
NM_001322009.1:c.2073+256_2073+269delinsCTCTAATCCCAGCA	NP_001308938.1:n.2073+256_2073+269delinsCTCTAATCCCAGCA
NM_001322010.1:c.1884+256_1884+269delinsCTCTAATCCCAGCA	NP_001308939.1:n.1884+256_1884+269delinsCTCTAATCCCAGCA
NM_001322011.1:c.1512+256_1512+269delinsCTCTAATCCCAGCA	NP_001308940.1:n.1512+256_1512+269delinsCTCTAATCCCAGCA
NM_001322012.1:c.1512+256_1512+269delinsCTCTAATCCCAGCA	NP_001308941.1:n.1512+256_1512+269delinsCTCTAATCCCAGCA
NM_001322013.1:c.1872+256_1872+269delinsCTCTAATCCCAGCA	NP_001308942.1:n.1872+256_1872+269delinsCTCTAATCCCAGCA
NM_001322014.1:c.2478+256_2478+269delinsCTCTAATCCCAGCA	NP_001308943.1:n.2478+256_2478+269delinsCTCTAATCCCAGCA
NM_001322015.1:c.2136+256_2136+269delinsCTCTAATCCCAGCA	NP_001308944.1:n.2136+256_2136+269delinsCTCTAATCCCAGCA
NR_136154.1:n.2489+256_2489+269delinsCTCTAATCCCAGCA
XM_006715744.4:c.1512+256_1512+269delinsCTCTAATCCCAGCA	XP_006715807.1:n.1512+256_1512+269delinsCTCTAATCCCAGCA
XM_017012342.2:c.1512+256_1512+269delinsCTCTAATCCCAGCA	XP_016867831.1:n.1512+256_1512+269delinsCTCTAATCCCAGCA
XM_024446800.1:c.1884+256_1884+269delinsCTCTAATCCCAGCA	XP_024302568.1:n.1884+256_1884+269delinsCTCTAATCCCAGCA
NM_000535.7:c.2445+256_2445+269delinsCTCTAATCCCAGCA MANE Select	NP_000526.2:n.2445+256_2445+269delinsCTCTAATCCCAGCA
NM_001322003.2:c.2040+256_2040+269delinsCTCTAATCCCAGCA	NP_001308932.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
NM_001322004.2:c.2040+256_2040+269delinsCTCTAATCCCAGCA	NP_001308933.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
NM_001322005.2:c.2040+256_2040+269delinsCTCTAATCCCAGCA	NP_001308934.1:n.2040+256_2040+269delinsCTCTAATCCCAGCA
NM_001322006.2:c.2289+256_2289+269delinsCTCTAATCCCAGCA	NP_001308935.1:n.2289+256_2289+269delinsCTCTAATCCCAGCA
NM_001322008.2:c.2127+256_2127+269delinsCTCTAATCCCAGCA	NP_001308937.1:n.2127+256_2127+269delinsCTCTAATCCCAGCA
NM_001322009.2:c.2073+256_2073+269delinsCTCTAATCCCAGCA	NP_001308938.1:n.2073+256_2073+269delinsCTCTAATCCCAGCA
NM_001322010.2:c.1884+256_1884+269delinsCTCTAATCCCAGCA	NP_001308939.1:n.1884+256_1884+269delinsCTCTAATCCCAGCA
NM_001322011.2:c.1512+256_1512+269delinsCTCTAATCCCAGCA	NP_001308940.1:n.1512+256_1512+269delinsCTCTAATCCCAGCA
NM_001322012.2:c.1512+256_1512+269delinsCTCTAATCCCAGCA	NP_001308941.1:n.1512+256_1512+269delinsCTCTAATCCCAGCA
NM_001322013.2:c.1872+256_1872+269delinsCTCTAATCCCAGCA	NP_001308942.1:n.1872+256_1872+269delinsCTCTAATCCCAGCA
NM_001322014.2:c.2478+256_2478+269delinsCTCTAATCCCAGCA	NP_001308943.1:n.2478+256_2478+269delinsCTCTAATCCCAGCA
NM_001322015.2:c.2136+256_2136+269delinsCTCTAATCCCAGCA	NP_001308944.1:n.2136+256_2136+269delinsCTCTAATCCCAGCA
NM_001322007.2:c.2127+256_2127+269delinsCTCTAATCCCAGCA	NP_001308936.1:n.2127+256_2127+269delinsCTCTAATCCCAGCA