Canonical Allele Identifier: CA1685217355

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982885C= , CM000669.2:g.5982885C=	GRCh38
NC_000007.13:g.6022516C= , CM000669.1:g.6022516C=	GRCh37
NC_000007.12:g.5989042C=	NCBI36
NG_008466.1:g.31222G= , LRG_161:g.31222G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1509G=	ENSP00000514615.2:n.*1509G=
ENST00000699840.2:c.2110G=	ENSP00000514638.2:p.Glu704=
ENST00000699930.2:c.2005G=	ENSP00000514695.2:p.Glu669=
ENST00000406569.8:c.1678+4202G=	ENSP00000514464.1:n.1678+4202G=
ENST00000644110.2:c.*1707G=	ENSP00000496392.2:n.*1707G=
ENST00000699752.1:c.1957G=	ENSP00000514561.1:p.Glu653=
ENST00000699753.1:c.*1534G=	ENSP00000514562.1:n.*1534G=
ENST00000699754.1:c.1915G=	ENSP00000514563.1:p.Glu639=
ENST00000699755.1:c.*1512G=	ENSP00000514564.1:n.*1512G=
ENST00000699756.1:c.*1700G=	ENSP00000514565.1:n.*1700G=
ENST00000699757.1:c.*1370G=	ENSP00000514566.1:n.*1370G=
ENST00000699758.1:c.*1370G=	ENSP00000514567.1:n.*1370G=
ENST00000699759.1:n.2967G=
ENST00000699760.1:c.1795G=	ENSP00000514568.1:p.Glu599=
ENST00000699761.1:c.1708G=	ENSP00000514569.1:p.Glu570=
ENST00000699762.1:c.1540G=	ENSP00000514570.1:p.Glu514=
ENST00000699763.1:c.*1203G=	ENSP00000514571.1:n.*1203G=
ENST00000699764.1:c.*431G=	ENSP00000514572.1:n.*431G=
ENST00000699765.1:c.*1209G=	ENSP00000514573.1:n.*1209G=
ENST00000699766.1:c.2113G=	ENSP00000514574.1:p.Glu705=
ENST00000699767.1:c.2113G=	ENSP00000514575.1:p.Glu705=
ENST00000699768.1:c.2113G=	ENSP00000514576.1:p.Glu705=
ENST00000699811.1:c.1708G=	ENSP00000514614.1:p.Glu570=
ENST00000699813.1:n.2226G=
ENST00000699814.1:c.1736G=
ENST00000699815.1:c.*1644G=	ENSP00000514616.1:n.*1644G=
ENST00000699816.1:c.*1003G=	ENSP00000514617.1:n.*1003G=
ENST00000699817.1:c.*1707G=	ENSP00000514618.1:n.*1707G=
ENST00000699818.1:c.1708G=	ENSP00000514619.1:p.Glu570=
ENST00000699819.1:c.*1270G=	ENSP00000514620.1:n.*1270G=
ENST00000699820.1:c.*51G=	ENSP00000514621.1:n.*51G=
ENST00000699821.1:c.1708G=	ENSP00000514622.1:p.Glu570=
ENST00000699822.1:c.*1565G=	ENSP00000514623.1:n.*1565G=
ENST00000699823.1:c.1708G=	ENSP00000514624.1:p.Glu570=
ENST00000699824.1:c.*1616G=	ENSP00000514625.1:n.*1616G=
ENST00000699825.1:c.1552G=	ENSP00000514626.1:p.Glu518=
ENST00000699826.1:c.*1512G=	ENSP00000514627.1:n.*1512G=
ENST00000699827.1:c.1945G=	ENSP00000514628.1:p.Glu649=
ENST00000699828.1:c.*1203G=	ENSP00000514629.1:n.*1203G=
ENST00000699833.1:n.3885G=
ENST00000699837.1:c.1708G=	ENSP00000514635.1:p.Glu570=
ENST00000699838.1:c.*2013G=	ENSP00000514636.1:n.*2013G=
ENST00000699839.1:c.2299G=	ENSP00000514637.1:p.Glu767=
ENST00000699916.1:c.*1370G=	ENSP00000514684.1:n.*1370G=
ENST00000699917.1:c.*1562G=	ENSP00000514685.1:n.*1562G=
ENST00000699918.1:c.*1614G=	ENSP00000514686.1:n.*1614G=
ENST00000699919.1:c.*1700G=	ENSP00000514687.1:n.*1700G=
ENST00000699920.1:c.*1749G=	ENSP00000514688.1:n.*1749G=
ENST00000699928.1:c.*51G=	ENSP00000514693.1:n.*51G=
ENST00000699951.1:c.*1209G=	ENSP00000514706.1:n.*1209G=
ENST00000699952.1:c.804-9343G=	ENSP00000514707.1:n.804-9343G=
ENST00000265849.12:c.2113G= MANE Select	ENSP00000265849.7:p.Glu705=
ENST00000642292.1:c.1708G=	ENSP00000495524.1:p.Glu570=
ENST00000642456.1:c.1708G=	ENSP00000493814.1:p.Glu570=
ENST00000643595.1:c.*1512G=	ENSP00000494497.1:n.*1512G=
ENST00000644110.1:c.1795G=	ENSP00000496392.1:p.Glu599=
ENST00000265849.11:c.2113G=	ENSP00000265849.7:p.Glu705=
ENST00000382321.5:c.910G=	ENSP00000371758.4:p.Glu304=
ENST00000406569.7:n.1678+4202G=
ENST00000441476.6:c.1795G=	ENSP00000392843.2:p.Glu599=
ENST00000469652.1:n.83G=
NM_000535.5:c.2113G= , LRG_161t1:c.2113G=	NP_000526.1:p.Glu705=
NR_003085.2:n.2195G=
XM_006715742.2:c.2107G=	XP_006715805.1:p.Glu703=
XM_006715744.2:c.1180G=	XP_006715807.1:p.Glu394=
XM_011515427.1:c.2158G=	XP_011513729.1:p.Glu720=
XM_011515428.1:c.2002G=	XP_011513730.1:p.Glu668=
XM_011515429.1:c.1795G=	XP_011513731.1:p.Glu599=
XM_011515430.1:c.1795G=	XP_011513732.1:p.Glu599=
NM_000535.6:c.2113G=	NP_000526.2:p.Glu705=
NM_001322003.1:c.1708G=	NP_001308932.1:p.Glu570=
NM_001322004.1:c.1708G=	NP_001308933.1:p.Glu570=
NM_001322005.1:c.1708G=	NP_001308934.1:p.Glu570=
NM_001322006.1:c.1957G=	NP_001308935.1:p.Glu653=
NM_001322007.1:c.1795G=	NP_001308936.1:p.Glu599=
NM_001322008.1:c.1795G=	NP_001308937.1:p.Glu599=
NM_001322009.1:c.1708G=	NP_001308938.1:p.Glu570=
NM_001322010.1:c.1552G=	NP_001308939.1:p.Glu518=
NM_001322011.1:c.1180G=	NP_001308940.1:p.Glu394=
NM_001322012.1:c.1180G=	NP_001308941.1:p.Glu394=
NM_001322013.1:c.1540G=	NP_001308942.1:p.Glu514=
NM_001322014.1:c.2113G=	NP_001308943.1:p.Glu705=
NM_001322015.1:c.1804G=	NP_001308944.1:p.Glu602=
NR_136154.1:n.2200G=
XM_006715744.4:c.1180G=	XP_006715807.1:p.Glu394=
XM_017012342.2:c.1180G=	XP_016867831.1:p.Glu394=
XM_024446800.1:c.1552G=	XP_024302568.1:p.Glu518=
NM_000535.7:c.2113G= MANE Select	NP_000526.2:p.Glu705=
NM_001322003.2:c.1708G=	NP_001308932.1:p.Glu570=
NM_001322004.2:c.1708G=	NP_001308933.1:p.Glu570=
NM_001322005.2:c.1708G=	NP_001308934.1:p.Glu570=
NM_001322006.2:c.1957G=	NP_001308935.1:p.Glu653=
NM_001322008.2:c.1795G=	NP_001308937.1:p.Glu599=
NM_001322009.2:c.1708G=	NP_001308938.1:p.Glu570=
NM_001322010.2:c.1552G=	NP_001308939.1:p.Glu518=
NM_001322011.2:c.1180G=	NP_001308940.1:p.Glu394=
NM_001322012.2:c.1180G=	NP_001308941.1:p.Glu394=
NM_001322013.2:c.1540G=	NP_001308942.1:p.Glu514=
NM_001322014.2:c.2113G=	NP_001308943.1:p.Glu705=
NM_001322015.2:c.1804G=	NP_001308944.1:p.Glu602=
NM_001322007.2:c.1795G=	NP_001308936.1:p.Glu599=