Canonical Allele Identifier: CA1685246108

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973437T= , CM000669.2:g.5973437T=	GRCh38
NC_000007.13:g.6013068T= , CM000669.1:g.6013068T=	GRCh37
NC_000007.12:g.5979594T=	NCBI36
NG_008466.1:g.40670A= , LRG_161:g.40670A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1947A=	ENSP00000514615.2:n.*1947A=
ENST00000699840.2:c.2548A=	ENSP00000514638.2:p.Arg850=
ENST00000699930.2:c.2443A=	ENSP00000514695.2:p.Arg815=
ENST00000406569.8:c.1911A=	ENSP00000514464.1:n.1911A=
ENST00000644110.2:c.*2145A=	ENSP00000496392.2:n.*2145A=
ENST00000699752.1:c.2395A=	ENSP00000514561.1:p.Arg799=
ENST00000699753.1:c.*1972A=	ENSP00000514562.1:n.*1972A=
ENST00000699754.1:c.2353A=	ENSP00000514563.1:p.Arg785=
ENST00000699755.1:c.*1950A=	ENSP00000514564.1:n.*1950A=
ENST00000699756.1:c.*2138A=	ENSP00000514565.1:n.*2138A=
ENST00000699757.1:c.*1808A=	ENSP00000514566.1:n.*1808A=
ENST00000699758.1:c.*1808A=	ENSP00000514567.1:n.*1808A=
ENST00000699759.1:n.3405A=
ENST00000699760.1:c.2233A=	ENSP00000514568.1:p.Arg745=
ENST00000699761.1:c.2146A=	ENSP00000514569.1:p.Arg716=
ENST00000699762.1:c.1978A=	ENSP00000514570.1:p.Arg660=
ENST00000699763.1:c.*1641A=	ENSP00000514571.1:n.*1641A=
ENST00000699764.1:c.*869A=	ENSP00000514572.1:n.*869A=
ENST00000699765.1:c.*1546A=	ENSP00000514573.1:n.*1546A=
ENST00000699766.1:c.2584A=	ENSP00000514574.1:p.Arg862=
ENST00000699767.1:c.*192A=	ENSP00000514575.1:n.*192A=
ENST00000699768.1:c.2407A=	ENSP00000514576.1:p.Arg803=
ENST00000699811.1:c.2146A=	ENSP00000514614.1:p.Arg716=
ENST00000699813.1:n.2664A=
ENST00000699814.1:c.2174A=
ENST00000699815.1:c.*2082A=	ENSP00000514616.1:n.*2082A=
ENST00000699816.1:c.*1441A=	ENSP00000514617.1:n.*1441A=
ENST00000699817.1:c.*2145A=	ENSP00000514618.1:n.*2145A=
ENST00000699818.1:c.2146A=	ENSP00000514619.1:p.Arg716=
ENST00000699819.1:c.*1708A=	ENSP00000514620.1:n.*1708A=
ENST00000699820.1:c.*489A=	ENSP00000514621.1:n.*489A=
ENST00000699821.1:c.2179A=	ENSP00000514622.1:p.Arg727=
ENST00000699822.1:c.*2003A=	ENSP00000514623.1:n.*2003A=
ENST00000699823.1:c.2146A=	ENSP00000514624.1:p.Arg716=
ENST00000699824.1:c.*2054A=	ENSP00000514625.1:n.*2054A=
ENST00000699825.1:c.1990A=	ENSP00000514626.1:p.Arg664=
ENST00000699826.1:c.*1950A=	ENSP00000514627.1:n.*1950A=
ENST00000699827.1:c.2383A=	ENSP00000514628.1:p.Arg795=
ENST00000699828.1:c.*1641A=	ENSP00000514629.1:n.*1641A=
ENST00000699833.1:n.4323A=
ENST00000699837.1:c.2146A=	ENSP00000514635.1:p.Arg716=
ENST00000699838.1:c.*2451A=	ENSP00000514636.1:n.*2451A=
ENST00000699839.1:c.2737A=	ENSP00000514637.1:p.Arg913=
ENST00000699916.1:c.*1808A=	ENSP00000514684.1:n.*1808A=
ENST00000699917.1:c.*2000A=	ENSP00000514685.1:n.*2000A=
ENST00000699918.1:c.*2052A=	ENSP00000514686.1:n.*2052A=
ENST00000699919.1:c.*2138A=	ENSP00000514687.1:n.*2138A=
ENST00000699920.1:c.*2187A=	ENSP00000514688.1:n.*2187A=
ENST00000699928.1:c.*489A=	ENSP00000514693.1:n.*489A=
ENST00000699951.1:c.*1604A=	ENSP00000514706.1:n.*1604A=
ENST00000699952.1:c.*105A=	ENSP00000514707.1:n.*105A=
ENST00000265849.12:c.2551A= MANE Select	ENSP00000265849.7:p.Arg851=
ENST00000642292.1:c.2146A=	ENSP00000495524.1:p.Arg716=
ENST00000642456.1:c.2146A=	ENSP00000493814.1:p.Arg716=
ENST00000643595.1:c.*1950A=	ENSP00000494497.1:n.*1950A=
ENST00000644110.1:c.2233A=	ENSP00000496392.1:p.Arg745=
ENST00000265849.11:c.2551A=	ENSP00000265849.7:p.Arg851=
ENST00000382321.5:c.1348A=	ENSP00000371758.4:p.Arg450=
ENST00000441476.6:c.2233A=	ENSP00000392843.2:p.Arg745=
NM_000535.5:c.2551A= , LRG_161t1:c.2551A=	NP_000526.1:p.Arg851=
NR_003085.2:n.2633A=
XM_006715742.2:c.2545A=	XP_006715805.1:p.Arg849=
XM_006715744.2:c.1618A=	XP_006715807.1:p.Arg540=
XM_011515427.1:c.2596A=	XP_011513729.1:p.Arg866=
XM_011515428.1:c.2440A=	XP_011513730.1:p.Arg814=
XM_011515429.1:c.2233A=	XP_011513731.1:p.Arg745=
XM_011515430.1:c.2233A=	XP_011513732.1:p.Arg745=
NM_000535.6:c.2551A=	NP_000526.2:p.Arg851=
NM_001322003.1:c.2146A=	NP_001308932.1:p.Arg716=
NM_001322004.1:c.2146A=	NP_001308933.1:p.Arg716=
NM_001322005.1:c.2146A=	NP_001308934.1:p.Arg716=
NM_001322006.1:c.2395A=	NP_001308935.1:p.Arg799=
NM_001322007.1:c.2233A=	NP_001308936.1:p.Arg745=
NM_001322008.1:c.2233A=	NP_001308937.1:p.Arg745=
NM_001322009.1:c.2179A=	NP_001308938.1:p.Arg727=
NM_001322010.1:c.1990A=	NP_001308939.1:p.Arg664=
NM_001322011.1:c.1618A=	NP_001308940.1:p.Arg540=
NM_001322012.1:c.1618A=	NP_001308941.1:p.Arg540=
NM_001322013.1:c.1978A=	NP_001308942.1:p.Arg660=
NM_001322014.1:c.2584A=	NP_001308943.1:p.Arg862=
NM_001322015.1:c.2242A=	NP_001308944.1:p.Arg748=
NR_136154.1:n.2595A=
XM_006715744.4:c.1618A=	XP_006715807.1:p.Arg540=
XM_017012342.2:c.1618A=	XP_016867831.1:p.Arg540=
XM_024446800.1:c.1990A=	XP_024302568.1:p.Arg664=
NM_000535.7:c.2551A= MANE Select	NP_000526.2:p.Arg851=
NM_001322003.2:c.2146A=	NP_001308932.1:p.Arg716=
NM_001322004.2:c.2146A=	NP_001308933.1:p.Arg716=
NM_001322005.2:c.2146A=	NP_001308934.1:p.Arg716=
NM_001322006.2:c.2395A=	NP_001308935.1:p.Arg799=
NM_001322008.2:c.2233A=	NP_001308937.1:p.Arg745=
NM_001322009.2:c.2179A=	NP_001308938.1:p.Arg727=
NM_001322010.2:c.1990A=	NP_001308939.1:p.Arg664=
NM_001322011.2:c.1618A=	NP_001308940.1:p.Arg540=
NM_001322012.2:c.1618A=	NP_001308941.1:p.Arg540=
NM_001322013.2:c.1978A=	NP_001308942.1:p.Arg660=
NM_001322014.2:c.2584A=	NP_001308943.1:p.Arg862=
NM_001322015.2:c.2242A=	NP_001308944.1:p.Arg748=
NM_001322007.2:c.2233A=	NP_001308936.1:p.Arg745=