Canonical Allele Identifier: CA1685226748

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986942G= , CM000669.2:g.5986942G=	GRCh38
NC_000007.13:g.6026573G= , CM000669.1:g.6026573G=	GRCh37
NC_000007.12:g.5993099G=	NCBI36
NG_008466.1:g.27165C= , LRG_161:g.27165C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1219C=	ENSP00000514615.2:n.*1219C=
ENST00000699840.2:c.1820C=	ENSP00000514638.2:p.Ala607=
ENST00000699930.2:c.1715C=	ENSP00000514695.2:p.Ala572=
ENST00000406569.8:c.1678+145C=	ENSP00000514464.1:n.1678+145C=
ENST00000644110.2:c.*1417C=	ENSP00000496392.2:n.*1417C=
ENST00000699752.1:c.1667C=	ENSP00000514561.1:p.Ala556=
ENST00000699753.1:c.*1244C=	ENSP00000514562.1:n.*1244C=
ENST00000699754.1:c.1625C=	ENSP00000514563.1:p.Ala542=
ENST00000699755.1:c.*1222C=	ENSP00000514564.1:n.*1222C=
ENST00000699756.1:c.*1410C=	ENSP00000514565.1:n.*1410C=
ENST00000699757.1:c.*1080C=	ENSP00000514566.1:n.*1080C=
ENST00000699758.1:c.*1080C=	ENSP00000514567.1:n.*1080C=
ENST00000699759.1:n.2677C=
ENST00000699760.1:c.1505C=	ENSP00000514568.1:p.Ala502=
ENST00000699761.1:c.1418C=	ENSP00000514569.1:p.Ala473=
ENST00000699762.1:c.1250C=	ENSP00000514570.1:p.Ala417=
ENST00000699763.1:c.*913C=	ENSP00000514571.1:n.*913C=
ENST00000699764.1:c.*141C=	ENSP00000514572.1:n.*141C=
ENST00000699765.1:c.*919C=	ENSP00000514573.1:n.*919C=
ENST00000699766.1:c.1823C=	ENSP00000514574.1:p.Ala608=
ENST00000699767.1:c.1823C=	ENSP00000514575.1:p.Ala608=
ENST00000699768.1:c.1823C=	ENSP00000514576.1:p.Ala608=
ENST00000699811.1:c.1418C=	ENSP00000514614.1:p.Ala473=
ENST00000699813.1:n.1936C=
ENST00000699814.1:c.1446C=
ENST00000699815.1:c.*1354C=	ENSP00000514616.1:n.*1354C=
ENST00000699816.1:c.*713C=	ENSP00000514617.1:n.*713C=
ENST00000699817.1:c.*1417C=	ENSP00000514618.1:n.*1417C=
ENST00000699818.1:c.1418C=	ENSP00000514619.1:p.Ala473=
ENST00000699819.1:c.*980C=	ENSP00000514620.1:n.*980C=
ENST00000699820.1:c.1144+2858C=	ENSP00000514621.1:n.1144+2858C=
ENST00000699821.1:c.1418C=	ENSP00000514622.1:p.Ala473=
ENST00000699822.1:c.*1275C=	ENSP00000514623.1:n.*1275C=
ENST00000699823.1:c.1418C=	ENSP00000514624.1:p.Ala473=
ENST00000699824.1:c.*1326C=	ENSP00000514625.1:n.*1326C=
ENST00000699825.1:c.1262C=	ENSP00000514626.1:p.Ala421=
ENST00000699826.1:c.*1222C=	ENSP00000514627.1:n.*1222C=
ENST00000699827.1:c.1655C=	ENSP00000514628.1:p.Ala552=
ENST00000699828.1:c.*913C=	ENSP00000514629.1:n.*913C=
ENST00000699833.1:n.3595C=
ENST00000699837.1:c.1418C=	ENSP00000514635.1:p.Ala473=
ENST00000699838.1:c.*1723C=	ENSP00000514636.1:n.*1723C=
ENST00000699839.1:c.2009C=	ENSP00000514637.1:p.Ala670=
ENST00000699916.1:c.*1080C=	ENSP00000514684.1:n.*1080C=
ENST00000699917.1:c.*1272C=	ENSP00000514685.1:n.*1272C=
ENST00000699918.1:c.*1324C=	ENSP00000514686.1:n.*1324C=
ENST00000699919.1:c.*1410C=	ENSP00000514687.1:n.*1410C=
ENST00000699920.1:c.*1459C=	ENSP00000514688.1:n.*1459C=
ENST00000699928.1:c.989-3951C=	ENSP00000514693.1:n.989-3951C=
ENST00000699929.1:c.*1124C=	ENSP00000514694.1:n.*1124C=
ENST00000699930.1:c.1715C=	ENSP00000514695.1:p.Ala572=
ENST00000699931.1:n.3251C=
ENST00000699951.1:c.*919C=	ENSP00000514706.1:n.*919C=
ENST00000699952.1:c.803+10384C=	ENSP00000514707.1:n.803+10384C=
ENST00000699953.1:c.*930C=	ENSP00000514708.1:n.*930C=
ENST00000699954.1:c.*1124C=	ENSP00000514709.1:n.*1124C=
ENST00000265849.12:c.1823C= MANE Select	ENSP00000265849.7:p.Ala608=
ENST00000642292.1:c.1418C=	ENSP00000495524.1:p.Ala473=
ENST00000642456.1:c.1418C=	ENSP00000493814.1:p.Ala473=
ENST00000643595.1:c.*1222C=	ENSP00000494497.1:n.*1222C=
ENST00000644110.1:c.1505C=	ENSP00000496392.1:p.Ala502=
ENST00000265849.11:c.1823C=	ENSP00000265849.7:p.Ala608=
ENST00000382321.5:c.804-3951C=	ENSP00000371758.4:n.804-3951C=
ENST00000406569.7:n.1678+145C=
ENST00000441476.6:c.1505C=	ENSP00000392843.2:p.Ala502=
ENST00000469652.1:n.63-4037C=
NM_000535.5:c.1823C= , LRG_161t1:c.1823C=	NP_000526.1:p.Ala608=
NR_003085.2:n.1905C=
XM_006715742.2:c.1817C=	XP_006715805.1:p.Ala606=
XM_006715744.2:c.890C=	XP_006715807.1:p.Ala297=
XM_011515427.1:c.1868C=	XP_011513729.1:p.Ala623=
XM_011515428.1:c.1712C=	XP_011513730.1:p.Ala571=
XM_011515429.1:c.1505C=	XP_011513731.1:p.Ala502=
XM_011515430.1:c.1505C=	XP_011513732.1:p.Ala502=
NM_000535.6:c.1823C=	NP_000526.2:p.Ala608=
NM_001322003.1:c.1418C=	NP_001308932.1:p.Ala473=
NM_001322004.1:c.1418C=	NP_001308933.1:p.Ala473=
NM_001322005.1:c.1418C=	NP_001308934.1:p.Ala473=
NM_001322006.1:c.1667C=	NP_001308935.1:p.Ala556=
NM_001322007.1:c.1505C=	NP_001308936.1:p.Ala502=
NM_001322008.1:c.1505C=	NP_001308937.1:p.Ala502=
NM_001322009.1:c.1418C=	NP_001308938.1:p.Ala473=
NM_001322010.1:c.1262C=	NP_001308939.1:p.Ala421=
NM_001322011.1:c.890C=	NP_001308940.1:p.Ala297=
NM_001322012.1:c.890C=	NP_001308941.1:p.Ala297=
NM_001322013.1:c.1250C=	NP_001308942.1:p.Ala417=
NM_001322014.1:c.1823C=	NP_001308943.1:p.Ala608=
NM_001322015.1:c.1514C=	NP_001308944.1:p.Ala505=
NR_136154.1:n.1910C=
XM_006715744.4:c.890C=	XP_006715807.1:p.Ala297=
XM_017012342.2:c.890C=	XP_016867831.1:p.Ala297=
XM_024446800.1:c.1262C=	XP_024302568.1:p.Ala421=
NM_000535.7:c.1823C= MANE Select	NP_000526.2:p.Ala608=
NM_001322003.2:c.1418C=	NP_001308932.1:p.Ala473=
NM_001322004.2:c.1418C=	NP_001308933.1:p.Ala473=
NM_001322005.2:c.1418C=	NP_001308934.1:p.Ala473=
NM_001322006.2:c.1667C=	NP_001308935.1:p.Ala556=
NM_001322008.2:c.1505C=	NP_001308937.1:p.Ala502=
NM_001322009.2:c.1418C=	NP_001308938.1:p.Ala473=
NM_001322010.2:c.1262C=	NP_001308939.1:p.Ala421=
NM_001322011.2:c.890C=	NP_001308940.1:p.Ala297=
NM_001322012.2:c.890C=	NP_001308941.1:p.Ala297=
NM_001322013.2:c.1250C=	NP_001308942.1:p.Ala417=
NM_001322014.2:c.1823C=	NP_001308943.1:p.Ala608=
NM_001322015.2:c.1514C=	NP_001308944.1:p.Ala505=
NM_001322007.2:c.1505C=	NP_001308936.1:p.Ala502=