Canonical Allele Identifier: CA366734849

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973454T>A , CM000669.2:g.5973454T>A	GRCh38
NC_000007.13:g.6013085T>A , CM000669.1:g.6013085T>A	GRCh37
NC_000007.12:g.5979611T>A	NCBI36
NG_008466.1:g.40653A>T , LRG_161:g.40653A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000535.7:c.2534A>T MANE Select	NP_000526.2:p.His845Leu
ENST00000265849.12:c.2534A>T MANE Select	ENSP00000265849.7:p.His845Leu
NM_000535.5:c.2534A>T , LRG_161t1:c.2534A>T	NP_000526.1:p.His845Leu
NM_000535.6:c.2534A>T	NP_000526.2:p.His845Leu
NM_001322003.1:c.2129A>T	NP_001308932.1:p.His710Leu
NM_001322003.2:c.2129A>T	NP_001308932.1:p.His710Leu
NM_001322004.1:c.2129A>T	NP_001308933.1:p.His710Leu
NM_001322004.2:c.2129A>T	NP_001308933.1:p.His710Leu
NM_001322005.1:c.2129A>T	NP_001308934.1:p.His710Leu
NM_001322005.2:c.2129A>T	NP_001308934.1:p.His710Leu
NM_001322006.1:c.2378A>T	NP_001308935.1:p.His793Leu
NM_001322006.2:c.2378A>T	NP_001308935.1:p.His793Leu
NM_001322007.1:c.2216A>T	NP_001308936.1:p.His739Leu
NM_001322007.2:c.2216A>T	NP_001308936.1:p.His739Leu
NM_001322008.1:c.2216A>T	NP_001308937.1:p.His739Leu
NM_001322008.2:c.2216A>T	NP_001308937.1:p.His739Leu
NM_001322009.1:c.2162A>T	NP_001308938.1:p.His721Leu
NM_001322009.2:c.2162A>T	NP_001308938.1:p.His721Leu
NM_001322010.1:c.1973A>T	NP_001308939.1:p.His658Leu
NM_001322010.2:c.1973A>T	NP_001308939.1:p.His658Leu
NM_001322011.1:c.1601A>T	NP_001308940.1:p.His534Leu
NM_001322011.2:c.1601A>T	NP_001308940.1:p.His534Leu
NM_001322012.1:c.1601A>T	NP_001308941.1:p.His534Leu
NM_001322012.2:c.1601A>T	NP_001308941.1:p.His534Leu
NM_001322013.1:c.1961A>T	NP_001308942.1:p.His654Leu
NM_001322013.2:c.1961A>T	NP_001308942.1:p.His654Leu
NM_001322014.1:c.2567A>T	NP_001308943.1:p.His856Leu
NM_001322014.2:c.2567A>T	NP_001308943.1:p.His856Leu
NM_001322015.1:c.2225A>T	NP_001308944.1:p.His742Leu
NM_001322015.2:c.2225A>T	NP_001308944.1:p.His742Leu
NR_003085.2:n.2616A>T
NR_136154.1:n.2578A>T
ENST00000265849.11:c.2534A>T	ENSP00000265849.7:p.His845Leu
ENST00000382321.5:c.1331A>T	ENSP00000371758.4:p.His444Leu
ENST00000406569.8:c.1894A>T	ENSP00000514464.1:n.1894A>T
ENST00000441476.6:c.2216A>T	ENSP00000392843.2:p.His739Leu
ENST00000642292.1:c.2129A>T	ENSP00000495524.1:p.His710Leu
ENST00000642456.1:c.2129A>T	ENSP00000493814.1:p.His710Leu
ENST00000643595.1:c.*1933A>T	ENSP00000494497.1:n.*1933A>T
ENST00000644110.1:c.2216A>T	ENSP00000496392.1:p.His739Leu
ENST00000644110.2:c.*2128A>T	ENSP00000496392.2:n.*2128A>T
ENST00000699752.1:c.2378A>T	ENSP00000514561.1:p.His793Leu
ENST00000699753.1:c.*1955A>T	ENSP00000514562.1:n.*1955A>T
ENST00000699754.1:c.2336A>T	ENSP00000514563.1:p.His779Leu
ENST00000699755.1:c.*1933A>T	ENSP00000514564.1:n.*1933A>T
ENST00000699756.1:c.*2121A>T	ENSP00000514565.1:n.*2121A>T
ENST00000699757.1:c.*1791A>T	ENSP00000514566.1:n.*1791A>T
ENST00000699758.1:c.*1791A>T	ENSP00000514567.1:n.*1791A>T
ENST00000699759.1:n.3388A>T
ENST00000699760.1:c.2216A>T	ENSP00000514568.1:p.His739Leu
ENST00000699761.1:c.2129A>T	ENSP00000514569.1:p.His710Leu
ENST00000699762.1:c.1961A>T	ENSP00000514570.1:p.His654Leu
ENST00000699763.1:c.*1624A>T	ENSP00000514571.1:n.*1624A>T
ENST00000699764.1:c.*852A>T	ENSP00000514572.1:n.*852A>T
ENST00000699765.1:c.*1529A>T	ENSP00000514573.1:n.*1529A>T
ENST00000699766.1:c.2567A>T	ENSP00000514574.1:p.His856Leu
ENST00000699767.1:c.*175A>T	ENSP00000514575.1:n.*175A>T
ENST00000699768.1:c.2390A>T	ENSP00000514576.1:p.His797Leu
ENST00000699811.1:c.2129A>T	ENSP00000514614.1:p.His710Leu
ENST00000699813.1:n.2647A>T
ENST00000699814.1:c.2157A>T
ENST00000699814.2:c.*1930A>T	ENSP00000514615.2:n.*1930A>T
ENST00000699815.1:c.*2065A>T	ENSP00000514616.1:n.*2065A>T
ENST00000699816.1:c.*1424A>T	ENSP00000514617.1:n.*1424A>T
ENST00000699817.1:c.*2128A>T	ENSP00000514618.1:n.*2128A>T
ENST00000699818.1:c.2129A>T	ENSP00000514619.1:p.His710Leu
ENST00000699819.1:c.*1691A>T	ENSP00000514620.1:n.*1691A>T
ENST00000699820.1:c.*472A>T	ENSP00000514621.1:n.*472A>T
ENST00000699821.1:c.2162A>T	ENSP00000514622.1:p.His721Leu
ENST00000699822.1:c.*1986A>T	ENSP00000514623.1:n.*1986A>T
ENST00000699823.1:c.2129A>T	ENSP00000514624.1:p.His710Leu
ENST00000699824.1:c.*2037A>T	ENSP00000514625.1:n.*2037A>T
ENST00000699825.1:c.1973A>T	ENSP00000514626.1:p.His658Leu
ENST00000699826.1:c.*1933A>T	ENSP00000514627.1:n.*1933A>T
ENST00000699827.1:c.2366A>T	ENSP00000514628.1:p.His789Leu
ENST00000699828.1:c.*1624A>T	ENSP00000514629.1:n.*1624A>T
ENST00000699833.1:n.4306A>T
ENST00000699837.1:c.2129A>T	ENSP00000514635.1:p.His710Leu
ENST00000699838.1:c.*2434A>T	ENSP00000514636.1:n.*2434A>T
ENST00000699839.1:c.2720A>T	ENSP00000514637.1:p.His907Leu
ENST00000699840.2:c.2531A>T	ENSP00000514638.2:p.His844Leu
ENST00000699916.1:c.*1791A>T	ENSP00000514684.1:n.*1791A>T
ENST00000699917.1:c.*1983A>T	ENSP00000514685.1:n.*1983A>T
ENST00000699918.1:c.*2035A>T	ENSP00000514686.1:n.*2035A>T
ENST00000699919.1:c.*2121A>T	ENSP00000514687.1:n.*2121A>T
ENST00000699920.1:c.*2170A>T	ENSP00000514688.1:n.*2170A>T
ENST00000699928.1:c.*472A>T	ENSP00000514693.1:n.*472A>T
ENST00000699930.2:c.2426A>T	ENSP00000514695.2:p.His809Leu
ENST00000699951.1:c.*1587A>T	ENSP00000514706.1:n.*1587A>T
ENST00000699952.1:c.*88A>T	ENSP00000514707.1:n.*88A>T
XM_006715742.2:c.2528A>T	XP_006715805.1:p.His843Leu
XM_006715744.2:c.1601A>T	XP_006715807.1:p.His534Leu
XM_006715744.4:c.1601A>T	XP_006715807.1:p.His534Leu
XM_011515427.1:c.2579A>T	XP_011513729.1:p.His860Leu
XM_011515428.1:c.2423A>T	XP_011513730.1:p.His808Leu
XM_011515429.1:c.2216A>T	XP_011513731.1:p.His739Leu
XM_011515430.1:c.2216A>T	XP_011513732.1:p.His739Leu
XM_017012342.2:c.1601A>T	XP_016867831.1:p.His534Leu
XM_024446800.1:c.1973A>T	XP_024302568.1:p.His658Leu