Canonical Allele Identifier: CA1685250081

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977618C= , CM000669.2:g.5977618C=	GRCh38
NC_000007.13:g.6017249C= , CM000669.1:g.6017249C=	GRCh37
NC_000007.12:g.5983775C=	NCBI36
NG_008466.1:g.36489G= , LRG_161:g.36489G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1811G=	ENSP00000514615.2:n.*1811G=
ENST00000699840.2:c.2412G=	ENSP00000514638.2:p.Gln804=
ENST00000699930.2:c.2307G=	ENSP00000514695.2:p.Gln769=
ENST00000406569.8:c.1775G=	ENSP00000514464.1:n.1775G=
ENST00000644110.2:c.*2009G=	ENSP00000496392.2:n.*2009G=
ENST00000699752.1:c.2259G=	ENSP00000514561.1:p.Gln753=
ENST00000699753.1:c.*1836G=	ENSP00000514562.1:n.*1836G=
ENST00000699754.1:c.2217G=	ENSP00000514563.1:p.Gln739=
ENST00000699755.1:c.*1814G=	ENSP00000514564.1:n.*1814G=
ENST00000699756.1:c.*2002G=	ENSP00000514565.1:n.*2002G=
ENST00000699757.1:c.*1672G=	ENSP00000514566.1:n.*1672G=
ENST00000699758.1:c.*1672G=	ENSP00000514567.1:n.*1672G=
ENST00000699759.1:n.3269G=
ENST00000699760.1:c.2097G=	ENSP00000514568.1:p.Gln699=
ENST00000699761.1:c.2010G=	ENSP00000514569.1:p.Gln670=
ENST00000699762.1:c.1842G=	ENSP00000514570.1:p.Gln614=
ENST00000699763.1:c.*1505G=	ENSP00000514571.1:n.*1505G=
ENST00000699764.1:c.*733G=	ENSP00000514572.1:n.*733G=
ENST00000699765.1:c.*1410G=	ENSP00000514573.1:n.*1410G=
ENST00000699766.1:c.2448G=	ENSP00000514574.1:p.Gln816=
ENST00000699767.1:c.*56G=	ENSP00000514575.1:n.*56G=
ENST00000699768.1:c.2271G=	ENSP00000514576.1:p.Gln757=
ENST00000699811.1:c.2010G=	ENSP00000514614.1:p.Gln670=
ENST00000699813.1:n.2528G=
ENST00000699814.1:c.2038G=
ENST00000699815.1:c.*1946G=	ENSP00000514616.1:n.*1946G=
ENST00000699816.1:c.*1305G=	ENSP00000514617.1:n.*1305G=
ENST00000699817.1:c.*2009G=	ENSP00000514618.1:n.*2009G=
ENST00000699818.1:c.2010G=	ENSP00000514619.1:p.Gln670=
ENST00000699819.1:c.*1572G=	ENSP00000514620.1:n.*1572G=
ENST00000699820.1:c.*353G=	ENSP00000514621.1:n.*353G=
ENST00000699821.1:c.2043G=	ENSP00000514622.1:p.Gln681=
ENST00000699822.1:c.*1867G=	ENSP00000514623.1:n.*1867G=
ENST00000699823.1:c.2010G=	ENSP00000514624.1:p.Gln670=
ENST00000699824.1:c.*1918G=	ENSP00000514625.1:n.*1918G=
ENST00000699825.1:c.1854G=	ENSP00000514626.1:p.Gln618=
ENST00000699826.1:c.*1814G=	ENSP00000514627.1:n.*1814G=
ENST00000699827.1:c.2247G=	ENSP00000514628.1:p.Gln749=
ENST00000699828.1:c.*1505G=	ENSP00000514629.1:n.*1505G=
ENST00000699833.1:n.4187G=
ENST00000699837.1:c.2010G=	ENSP00000514635.1:p.Gln670=
ENST00000699838.1:c.*2315G=	ENSP00000514636.1:n.*2315G=
ENST00000699839.1:c.2601G=	ENSP00000514637.1:p.Gln867=
ENST00000699916.1:c.*1672G=	ENSP00000514684.1:n.*1672G=
ENST00000699917.1:c.*1864G=	ENSP00000514685.1:n.*1864G=
ENST00000699918.1:c.*1916G=	ENSP00000514686.1:n.*1916G=
ENST00000699919.1:c.*2002G=	ENSP00000514687.1:n.*2002G=
ENST00000699920.1:c.*2051G=	ENSP00000514688.1:n.*2051G=
ENST00000699928.1:c.*353G=	ENSP00000514693.1:n.*353G=
ENST00000699951.1:c.*1468G=	ENSP00000514706.1:n.*1468G=
ENST00000699952.1:c.804-4076G=	ENSP00000514707.1:n.804-4076G=
ENST00000265849.12:c.2415G= MANE Select	ENSP00000265849.7:p.Gln805=
ENST00000642292.1:c.2010G=	ENSP00000495524.1:p.Gln670=
ENST00000642456.1:c.2010G=	ENSP00000493814.1:p.Gln670=
ENST00000643595.1:c.*1814G=	ENSP00000494497.1:n.*1814G=
ENST00000644110.1:c.2097G=	ENSP00000496392.1:p.Gln699=
ENST00000265849.11:c.2415G=	ENSP00000265849.7:p.Gln805=
ENST00000382321.5:c.1212G=	ENSP00000371758.4:p.Gln404=
ENST00000441476.6:c.2097G=	ENSP00000392843.2:p.Gln699=
NM_000535.5:c.2415G= , LRG_161t1:c.2415G=	NP_000526.1:p.Gln805=
NR_003085.2:n.2497G=
XM_006715742.2:c.2409G=	XP_006715805.1:p.Gln803=
XM_006715744.2:c.1482G=	XP_006715807.1:p.Gln494=
XM_011515427.1:c.2460G=	XP_011513729.1:p.Gln820=
XM_011515428.1:c.2304G=	XP_011513730.1:p.Gln768=
XM_011515429.1:c.2097G=	XP_011513731.1:p.Gln699=
XM_011515430.1:c.2097G=	XP_011513732.1:p.Gln699=
NM_000535.6:c.2415G=	NP_000526.2:p.Gln805=
NM_001322003.1:c.2010G=	NP_001308932.1:p.Gln670=
NM_001322004.1:c.2010G=	NP_001308933.1:p.Gln670=
NM_001322005.1:c.2010G=	NP_001308934.1:p.Gln670=
NM_001322006.1:c.2259G=	NP_001308935.1:p.Gln753=
NM_001322007.1:c.2097G=	NP_001308936.1:p.Gln699=
NM_001322008.1:c.2097G=	NP_001308937.1:p.Gln699=
NM_001322009.1:c.2043G=	NP_001308938.1:p.Gln681=
NM_001322010.1:c.1854G=	NP_001308939.1:p.Gln618=
NM_001322011.1:c.1482G=	NP_001308940.1:p.Gln494=
NM_001322012.1:c.1482G=	NP_001308941.1:p.Gln494=
NM_001322013.1:c.1842G=	NP_001308942.1:p.Gln614=
NM_001322014.1:c.2448G=	NP_001308943.1:p.Gln816=
NM_001322015.1:c.2106G=	NP_001308944.1:p.Gln702=
NR_136154.1:n.2459G=
XM_006715744.4:c.1482G=	XP_006715807.1:p.Gln494=
XM_017012342.2:c.1482G=	XP_016867831.1:p.Gln494=
XM_024446800.1:c.1854G=	XP_024302568.1:p.Gln618=
NM_000535.7:c.2415G= MANE Select	NP_000526.2:p.Gln805=
NM_001322003.2:c.2010G=	NP_001308932.1:p.Gln670=
NM_001322004.2:c.2010G=	NP_001308933.1:p.Gln670=
NM_001322005.2:c.2010G=	NP_001308934.1:p.Gln670=
NM_001322006.2:c.2259G=	NP_001308935.1:p.Gln753=
NM_001322008.2:c.2097G=	NP_001308937.1:p.Gln699=
NM_001322009.2:c.2043G=	NP_001308938.1:p.Gln681=
NM_001322010.2:c.1854G=	NP_001308939.1:p.Gln618=
NM_001322011.2:c.1482G=	NP_001308940.1:p.Gln494=
NM_001322012.2:c.1482G=	NP_001308941.1:p.Gln494=
NM_001322013.2:c.1842G=	NP_001308942.1:p.Gln614=
NM_001322014.2:c.2448G=	NP_001308943.1:p.Gln816=
NM_001322015.2:c.2106G=	NP_001308944.1:p.Gln702=
NM_001322007.2:c.2097G=	NP_001308936.1:p.Gln699=