Canonical Allele Identifier: CA1685217842

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982967T= , CM000669.2:g.5982967T=	GRCh38
NC_000007.13:g.6022598T= , CM000669.1:g.6022598T=	GRCh37
NC_000007.12:g.5989124T=	NCBI36
NG_008466.1:g.31140A= , LRG_161:g.31140A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1427A=	ENSP00000514615.2:n.*1427A=
ENST00000699840.2:c.2028A=	ENSP00000514638.2:p.Glu676=
ENST00000699930.2:c.1923A=	ENSP00000514695.2:p.Glu641=
ENST00000406569.8:c.1678+4120A=	ENSP00000514464.1:n.1678+4120A=
ENST00000644110.2:c.*1625A=	ENSP00000496392.2:n.*1625A=
ENST00000699752.1:c.1875A=	ENSP00000514561.1:p.Glu625=
ENST00000699753.1:c.*1452A=	ENSP00000514562.1:n.*1452A=
ENST00000699754.1:c.1833A=	ENSP00000514563.1:p.Glu611=
ENST00000699755.1:c.*1430A=	ENSP00000514564.1:n.*1430A=
ENST00000699756.1:c.*1618A=	ENSP00000514565.1:n.*1618A=
ENST00000699757.1:c.*1288A=	ENSP00000514566.1:n.*1288A=
ENST00000699758.1:c.*1288A=	ENSP00000514567.1:n.*1288A=
ENST00000699759.1:n.2885A=
ENST00000699760.1:c.1713A=	ENSP00000514568.1:p.Glu571=
ENST00000699761.1:c.1626A=	ENSP00000514569.1:p.Glu542=
ENST00000699762.1:c.1458A=	ENSP00000514570.1:p.Glu486=
ENST00000699763.1:c.*1121A=	ENSP00000514571.1:n.*1121A=
ENST00000699764.1:c.*349A=	ENSP00000514572.1:n.*349A=
ENST00000699765.1:c.*1127A=	ENSP00000514573.1:n.*1127A=
ENST00000699766.1:c.2031A=	ENSP00000514574.1:p.Glu677=
ENST00000699767.1:c.2031A=	ENSP00000514575.1:p.Glu677=
ENST00000699768.1:c.2031A=	ENSP00000514576.1:p.Glu677=
ENST00000699811.1:c.1626A=	ENSP00000514614.1:p.Glu542=
ENST00000699813.1:n.2144A=
ENST00000699814.1:c.1654A=
ENST00000699815.1:c.*1562A=	ENSP00000514616.1:n.*1562A=
ENST00000699816.1:c.*921A=	ENSP00000514617.1:n.*921A=
ENST00000699817.1:c.*1625A=	ENSP00000514618.1:n.*1625A=
ENST00000699818.1:c.1626A=	ENSP00000514619.1:p.Glu542=
ENST00000699819.1:c.*1188A=	ENSP00000514620.1:n.*1188A=
ENST00000699820.1:c.1169A=	ENSP00000514621.1:p.Lys390=
ENST00000699821.1:c.1626A=	ENSP00000514622.1:p.Glu542=
ENST00000699822.1:c.*1483A=	ENSP00000514623.1:n.*1483A=
ENST00000699823.1:c.1626A=	ENSP00000514624.1:p.Glu542=
ENST00000699824.1:c.*1534A=	ENSP00000514625.1:n.*1534A=
ENST00000699825.1:c.1470A=	ENSP00000514626.1:p.Glu490=
ENST00000699826.1:c.*1430A=	ENSP00000514627.1:n.*1430A=
ENST00000699827.1:c.1863A=	ENSP00000514628.1:p.Glu621=
ENST00000699828.1:c.*1121A=	ENSP00000514629.1:n.*1121A=
ENST00000699833.1:n.3803A=
ENST00000699837.1:c.1626A=	ENSP00000514635.1:p.Glu542=
ENST00000699838.1:c.*1931A=	ENSP00000514636.1:n.*1931A=
ENST00000699839.1:c.2217A=	ENSP00000514637.1:p.Glu739=
ENST00000699916.1:c.*1288A=	ENSP00000514684.1:n.*1288A=
ENST00000699917.1:c.*1480A=	ENSP00000514685.1:n.*1480A=
ENST00000699918.1:c.*1532A=	ENSP00000514686.1:n.*1532A=
ENST00000699919.1:c.*1618A=	ENSP00000514687.1:n.*1618A=
ENST00000699920.1:c.*1667A=	ENSP00000514688.1:n.*1667A=
ENST00000699928.1:c.1013A=	ENSP00000514693.1:p.Lys338=
ENST00000699951.1:c.*1127A=	ENSP00000514706.1:n.*1127A=
ENST00000699952.1:c.804-9425A=	ENSP00000514707.1:n.804-9425A=
ENST00000265849.12:c.2031A= MANE Select	ENSP00000265849.7:p.Glu677=
ENST00000642292.1:c.1626A=	ENSP00000495524.1:p.Glu542=
ENST00000642456.1:c.1626A=	ENSP00000493814.1:p.Glu542=
ENST00000643595.1:c.*1430A=	ENSP00000494497.1:n.*1430A=
ENST00000644110.1:c.1713A=	ENSP00000496392.1:p.Glu571=
ENST00000265849.11:c.2031A=	ENSP00000265849.7:p.Glu677=
ENST00000382321.5:c.828A=	ENSP00000371758.4:p.Glu276=
ENST00000406569.7:n.1678+4120A=
ENST00000441476.6:c.1713A=	ENSP00000392843.2:p.Glu571=
ENST00000469652.1:n.63-62A=
NM_000535.5:c.2031A= , LRG_161t1:c.2031A=	NP_000526.1:p.Glu677=
NR_003085.2:n.2113A=
XM_006715742.2:c.2025A=	XP_006715805.1:p.Glu675=
XM_006715744.2:c.1098A=	XP_006715807.1:p.Glu366=
XM_011515427.1:c.2076A=	XP_011513729.1:p.Glu692=
XM_011515428.1:c.1920A=	XP_011513730.1:p.Glu640=
XM_011515429.1:c.1713A=	XP_011513731.1:p.Glu571=
XM_011515430.1:c.1713A=	XP_011513732.1:p.Glu571=
NM_000535.6:c.2031A=	NP_000526.2:p.Glu677=
NM_001322003.1:c.1626A=	NP_001308932.1:p.Glu542=
NM_001322004.1:c.1626A=	NP_001308933.1:p.Glu542=
NM_001322005.1:c.1626A=	NP_001308934.1:p.Glu542=
NM_001322006.1:c.1875A=	NP_001308935.1:p.Glu625=
NM_001322007.1:c.1713A=	NP_001308936.1:p.Glu571=
NM_001322008.1:c.1713A=	NP_001308937.1:p.Glu571=
NM_001322009.1:c.1626A=	NP_001308938.1:p.Glu542=
NM_001322010.1:c.1470A=	NP_001308939.1:p.Glu490=
NM_001322011.1:c.1098A=	NP_001308940.1:p.Glu366=
NM_001322012.1:c.1098A=	NP_001308941.1:p.Glu366=
NM_001322013.1:c.1458A=	NP_001308942.1:p.Glu486=
NM_001322014.1:c.2031A=	NP_001308943.1:p.Glu677=
NM_001322015.1:c.1722A=	NP_001308944.1:p.Glu574=
NR_136154.1:n.2118A=
XM_006715744.4:c.1098A=	XP_006715807.1:p.Glu366=
XM_017012342.2:c.1098A=	XP_016867831.1:p.Glu366=
XM_024446800.1:c.1470A=	XP_024302568.1:p.Glu490=
NM_000535.7:c.2031A= MANE Select	NP_000526.2:p.Glu677=
NM_001322003.2:c.1626A=	NP_001308932.1:p.Glu542=
NM_001322004.2:c.1626A=	NP_001308933.1:p.Glu542=
NM_001322005.2:c.1626A=	NP_001308934.1:p.Glu542=
NM_001322006.2:c.1875A=	NP_001308935.1:p.Glu625=
NM_001322008.2:c.1713A=	NP_001308937.1:p.Glu571=
NM_001322009.2:c.1626A=	NP_001308938.1:p.Glu542=
NM_001322010.2:c.1470A=	NP_001308939.1:p.Glu490=
NM_001322011.2:c.1098A=	NP_001308940.1:p.Glu366=
NM_001322012.2:c.1098A=	NP_001308941.1:p.Glu366=
NM_001322013.2:c.1458A=	NP_001308942.1:p.Glu486=
NM_001322014.2:c.2031A=	NP_001308943.1:p.Glu677=
NM_001322015.2:c.1722A=	NP_001308944.1:p.Glu574=
NM_001322007.2:c.1713A=	NP_001308936.1:p.Glu571=