Canonical Allele Identifier: CA1685226736

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986941A= , CM000669.2:g.5986941A=	GRCh38
NC_000007.13:g.6026572A= , CM000669.1:g.6026572A=	GRCh37
NC_000007.12:g.5993098A=	NCBI36
NG_008466.1:g.27166T= , LRG_161:g.27166T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1220T=	ENSP00000514615.2:n.*1220T=
ENST00000699840.2:c.1821T=	ENSP00000514638.2:p.Ala607=
ENST00000699930.2:c.1716T=	ENSP00000514695.2:p.Ala572=
ENST00000406569.8:c.1678+146T=	ENSP00000514464.1:n.1678+146T=
ENST00000644110.2:c.*1418T=	ENSP00000496392.2:n.*1418T=
ENST00000699752.1:c.1668T=	ENSP00000514561.1:p.Ala556=
ENST00000699753.1:c.*1245T=	ENSP00000514562.1:n.*1245T=
ENST00000699754.1:c.1626T=	ENSP00000514563.1:p.Ala542=
ENST00000699755.1:c.*1223T=	ENSP00000514564.1:n.*1223T=
ENST00000699756.1:c.*1411T=	ENSP00000514565.1:n.*1411T=
ENST00000699757.1:c.*1081T=	ENSP00000514566.1:n.*1081T=
ENST00000699758.1:c.*1081T=	ENSP00000514567.1:n.*1081T=
ENST00000699759.1:n.2678T=
ENST00000699760.1:c.1506T=	ENSP00000514568.1:p.Ala502=
ENST00000699761.1:c.1419T=	ENSP00000514569.1:p.Ala473=
ENST00000699762.1:c.1251T=	ENSP00000514570.1:p.Ala417=
ENST00000699763.1:c.*914T=	ENSP00000514571.1:n.*914T=
ENST00000699764.1:c.*142T=	ENSP00000514572.1:n.*142T=
ENST00000699765.1:c.*920T=	ENSP00000514573.1:n.*920T=
ENST00000699766.1:c.1824T=	ENSP00000514574.1:p.Ala608=
ENST00000699767.1:c.1824T=	ENSP00000514575.1:p.Ala608=
ENST00000699768.1:c.1824T=	ENSP00000514576.1:p.Ala608=
ENST00000699811.1:c.1419T=	ENSP00000514614.1:p.Ala473=
ENST00000699813.1:n.1937T=
ENST00000699814.1:c.1447T=
ENST00000699815.1:c.*1355T=	ENSP00000514616.1:n.*1355T=
ENST00000699816.1:c.*714T=	ENSP00000514617.1:n.*714T=
ENST00000699817.1:c.*1418T=	ENSP00000514618.1:n.*1418T=
ENST00000699818.1:c.1419T=	ENSP00000514619.1:p.Ala473=
ENST00000699819.1:c.*981T=	ENSP00000514620.1:n.*981T=
ENST00000699820.1:c.1144+2859T=	ENSP00000514621.1:n.1144+2859T=
ENST00000699821.1:c.1419T=	ENSP00000514622.1:p.Ala473=
ENST00000699822.1:c.*1276T=	ENSP00000514623.1:n.*1276T=
ENST00000699823.1:c.1419T=	ENSP00000514624.1:p.Ala473=
ENST00000699824.1:c.*1327T=	ENSP00000514625.1:n.*1327T=
ENST00000699825.1:c.1263T=	ENSP00000514626.1:p.Ala421=
ENST00000699826.1:c.*1223T=	ENSP00000514627.1:n.*1223T=
ENST00000699827.1:c.1656T=	ENSP00000514628.1:p.Ala552=
ENST00000699828.1:c.*914T=	ENSP00000514629.1:n.*914T=
ENST00000699833.1:n.3596T=
ENST00000699837.1:c.1419T=	ENSP00000514635.1:p.Ala473=
ENST00000699838.1:c.*1724T=	ENSP00000514636.1:n.*1724T=
ENST00000699839.1:c.2010T=	ENSP00000514637.1:p.Ala670=
ENST00000699916.1:c.*1081T=	ENSP00000514684.1:n.*1081T=
ENST00000699917.1:c.*1273T=	ENSP00000514685.1:n.*1273T=
ENST00000699918.1:c.*1325T=	ENSP00000514686.1:n.*1325T=
ENST00000699919.1:c.*1411T=	ENSP00000514687.1:n.*1411T=
ENST00000699920.1:c.*1460T=	ENSP00000514688.1:n.*1460T=
ENST00000699928.1:c.989-3950T=	ENSP00000514693.1:n.989-3950T=
ENST00000699929.1:c.*1125T=	ENSP00000514694.1:n.*1125T=
ENST00000699930.1:c.1716T=	ENSP00000514695.1:p.Ala572=
ENST00000699931.1:n.3252T=
ENST00000699951.1:c.*920T=	ENSP00000514706.1:n.*920T=
ENST00000699952.1:c.803+10385T=	ENSP00000514707.1:n.803+10385T=
ENST00000699953.1:c.*931T=	ENSP00000514708.1:n.*931T=
ENST00000699954.1:c.*1125T=	ENSP00000514709.1:n.*1125T=
ENST00000265849.12:c.1824T= MANE Select	ENSP00000265849.7:p.Ala608=
ENST00000642292.1:c.1419T=	ENSP00000495524.1:p.Ala473=
ENST00000642456.1:c.1419T=	ENSP00000493814.1:p.Ala473=
ENST00000643595.1:c.*1223T=	ENSP00000494497.1:n.*1223T=
ENST00000644110.1:c.1506T=	ENSP00000496392.1:p.Ala502=
ENST00000265849.11:c.1824T=	ENSP00000265849.7:p.Ala608=
ENST00000382321.5:c.804-3950T=	ENSP00000371758.4:n.804-3950T=
ENST00000406569.7:n.1678+146T=
ENST00000441476.6:c.1506T=	ENSP00000392843.2:p.Ala502=
ENST00000469652.1:n.63-4036T=
NM_000535.5:c.1824T= , LRG_161t1:c.1824T=	NP_000526.1:p.Ala608=
NR_003085.2:n.1906T=
XM_006715742.2:c.1818T=	XP_006715805.1:p.Ala606=
XM_006715744.2:c.891T=	XP_006715807.1:p.Ala297=
XM_011515427.1:c.1869T=	XP_011513729.1:p.Ala623=
XM_011515428.1:c.1713T=	XP_011513730.1:p.Ala571=
XM_011515429.1:c.1506T=	XP_011513731.1:p.Ala502=
XM_011515430.1:c.1506T=	XP_011513732.1:p.Ala502=
NM_000535.6:c.1824T=	NP_000526.2:p.Ala608=
NM_001322003.1:c.1419T=	NP_001308932.1:p.Ala473=
NM_001322004.1:c.1419T=	NP_001308933.1:p.Ala473=
NM_001322005.1:c.1419T=	NP_001308934.1:p.Ala473=
NM_001322006.1:c.1668T=	NP_001308935.1:p.Ala556=
NM_001322007.1:c.1506T=	NP_001308936.1:p.Ala502=
NM_001322008.1:c.1506T=	NP_001308937.1:p.Ala502=
NM_001322009.1:c.1419T=	NP_001308938.1:p.Ala473=
NM_001322010.1:c.1263T=	NP_001308939.1:p.Ala421=
NM_001322011.1:c.891T=	NP_001308940.1:p.Ala297=
NM_001322012.1:c.891T=	NP_001308941.1:p.Ala297=
NM_001322013.1:c.1251T=	NP_001308942.1:p.Ala417=
NM_001322014.1:c.1824T=	NP_001308943.1:p.Ala608=
NM_001322015.1:c.1515T=	NP_001308944.1:p.Ala505=
NR_136154.1:n.1911T=
XM_006715744.4:c.891T=	XP_006715807.1:p.Ala297=
XM_017012342.2:c.891T=	XP_016867831.1:p.Ala297=
XM_024446800.1:c.1263T=	XP_024302568.1:p.Ala421=
NM_000535.7:c.1824T= MANE Select	NP_000526.2:p.Ala608=
NM_001322003.2:c.1419T=	NP_001308932.1:p.Ala473=
NM_001322004.2:c.1419T=	NP_001308933.1:p.Ala473=
NM_001322005.2:c.1419T=	NP_001308934.1:p.Ala473=
NM_001322006.2:c.1668T=	NP_001308935.1:p.Ala556=
NM_001322008.2:c.1506T=	NP_001308937.1:p.Ala502=
NM_001322009.2:c.1419T=	NP_001308938.1:p.Ala473=
NM_001322010.2:c.1263T=	NP_001308939.1:p.Ala421=
NM_001322011.2:c.891T=	NP_001308940.1:p.Ala297=
NM_001322012.2:c.891T=	NP_001308941.1:p.Ala297=
NM_001322013.2:c.1251T=	NP_001308942.1:p.Ala417=
NM_001322014.2:c.1824T=	NP_001308943.1:p.Ala608=
NM_001322015.2:c.1515T=	NP_001308944.1:p.Ala505=
NM_001322007.2:c.1506T=	NP_001308936.1:p.Ala502=