Canonical Allele Identifier: CA1139659569
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 958439
dbSNP Id: rs1784291698

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5995537dup , CM000669.2:g.5995537dup GRCh38
NC_000007.13:g.6035168dup , CM000669.1:g.6035168dup GRCh37
NC_000007.12:g.6001694dup NCBI36
NG_008466.1:g.18572dup , LRG_161:g.18572dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*300-3478dup ENSP00000514615.2:n.*300-3478dup
ENST00000699840.2:c.899dup ENSP00000514638.2:p.Val301GlyfsTer7
ENST00000699930.2:c.794dup ENSP00000514695.2:p.Val266GlyfsTer7
ENST00000406569.8:c.902dup ENSP00000514464.1:p.Val302GlyfsTer7
ENST00000644110.2:c.*496dup ENSP00000496392.2:n.*496dup
ENST00000699752.1:c.902dup ENSP00000514561.1:p.Val302GlyfsTer7
ENST00000699753.1:c.*202+1791dup ENSP00000514562.1:n.*202+1791dup
ENST00000699754.1:c.706-3478dup ENSP00000514563.1:n.706-3478dup
ENST00000699755.1:c.*301dup ENSP00000514564.1:n.*301dup
ENST00000699756.1:c.*489dup ENSP00000514565.1:n.*489dup
ENST00000699757.1:c.*159dup ENSP00000514566.1:n.*159dup
ENST00000699758.1:c.*159dup ENSP00000514567.1:n.*159dup
ENST00000699759.1:n.974dup
ENST00000699760.1:c.584dup ENSP00000514568.1:p.Val196GlyfsTer7
ENST00000699761.1:c.497dup ENSP00000514569.1:p.Val167GlyfsTer7
ENST00000699762.1:c.329dup ENSP00000514570.1:p.Val111GlyfsTer7
ENST00000699763.1:c.497dup ENSP00000514571.1:p.Val167GlyfsTer7
ENST00000699764.1:c.902dup ENSP00000514572.1:p.Val302GlyfsTer7
ENST00000699765.1:c.485+1791dup ENSP00000514573.1:n.485+1791dup
ENST00000699766.1:c.902dup ENSP00000514574.1:p.Val302GlyfsTer7
ENST00000699767.1:c.902dup ENSP00000514575.1:p.Val302GlyfsTer7
ENST00000699768.1:c.902dup ENSP00000514576.1:p.Val302GlyfsTer7
ENST00000699811.1:c.497dup ENSP00000514614.1:p.Val167GlyfsTer7
ENST00000699813.1:n.1015dup
ENST00000699814.1:c.527-3478dup
ENST00000699815.1:c.*305-931dup ENSP00000514616.1:n.*305-931dup
ENST00000699816.1:c.497dup ENSP00000514617.1:p.Val167GlyfsTer7
ENST00000699817.1:c.*496dup ENSP00000514618.1:n.*496dup
ENST00000699818.1:c.497dup ENSP00000514619.1:p.Val167GlyfsTer7
ENST00000699819.1:c.*60+1791dup ENSP00000514620.1:n.*60+1791dup
ENST00000699820.1:c.902dup ENSP00000514621.1:p.Val302GlyfsTer7
ENST00000699821.1:c.497dup ENSP00000514622.1:p.Val167GlyfsTer7
ENST00000699822.1:c.*354dup ENSP00000514623.1:n.*354dup
ENST00000699823.1:c.497dup ENSP00000514624.1:p.Val167GlyfsTer7
ENST00000699824.1:c.*405dup ENSP00000514625.1:n.*405dup
ENST00000699825.1:c.497dup ENSP00000514626.1:p.Val167GlyfsTer7
ENST00000699826.1:c.*301dup ENSP00000514627.1:n.*301dup
ENST00000699827.1:c.734dup ENSP00000514628.1:p.Val246GlyfsTer7
ENST00000699828.1:c.902dup ENSP00000514629.1:p.Val302GlyfsTer7
ENST00000699829.1:c.*403dup ENSP00000514630.1:n.*403dup
ENST00000699830.1:c.*301dup ENSP00000514631.1:n.*301dup
ENST00000699833.1:n.2674dup
ENST00000699837.1:c.497dup ENSP00000514635.1:p.Val167GlyfsTer7
ENST00000699838.1:c.*802dup ENSP00000514636.1:n.*802dup
ENST00000699839.1:c.1088dup ENSP00000514637.1:p.Val364GlyfsTer7
ENST00000699840.1:c.899dup ENSP00000514638.1:p.Val301GlyfsTer7
ENST00000699916.1:c.*159dup ENSP00000514684.1:n.*159dup
ENST00000699917.1:c.*351dup ENSP00000514685.1:n.*351dup
ENST00000699918.1:c.*403dup ENSP00000514686.1:n.*403dup
ENST00000699919.1:c.*489dup ENSP00000514687.1:n.*489dup
ENST00000699920.1:c.*538dup ENSP00000514688.1:n.*538dup
ENST00000699928.1:c.902dup ENSP00000514693.1:p.Val302GlyfsTer7
ENST00000699929.1:c.*203dup ENSP00000514694.1:n.*203dup
ENST00000699930.1:c.794dup ENSP00000514695.1:p.Val266GlyfsTer7
ENST00000699931.1:n.1013dup
ENST00000699932.1:c.803+1791dup ENSP00000514696.1:n.803+1791dup
ENST00000699933.1:n.883+1791dup
ENST00000699951.1:c.803+1791dup ENSP00000514706.1:n.803+1791dup
ENST00000699952.1:c.803+1791dup ENSP00000514707.1:n.803+1791dup
ENST00000699953.1:c.*9dup ENSP00000514708.1:n.*9dup
ENST00000699954.1:c.*203dup ENSP00000514709.1:n.*203dup
ENST00000265849.12:c.902dup MANE Select ENSP00000265849.7:p.Val302GlyfsTer7
ENST00000642292.1:c.497dup ENSP00000495524.1:p.Val167GlyfsTer7
ENST00000642456.1:c.497dup ENSP00000493814.1:p.Val167GlyfsTer7
ENST00000643595.1:c.*301dup ENSP00000494497.1:n.*301dup
ENST00000644110.1:c.584dup ENSP00000496392.1:p.Val196GlyfsTer7
ENST00000265849.11:c.902dup ENSP00000265849.7:p.Val302GlyfsTer7
ENST00000382321.5:c.803+1791dup ENSP00000371758.4:n.803+1791dup
ENST00000406569.7:n.902dup
ENST00000441476.6:c.584dup ENSP00000392843.2:p.Val196GlyfsTer7
ENST00000469652.1:n.62+10458dup
NM_000535.5:c.902dup , LRG_161t1:c.902dup NP_000526.1:p.Val302GlyfsTer7
NR_003085.2:n.984dup
XM_006715742.2:c.896dup XP_006715805.1:p.Val300GlyfsTer7
XM_011515427.1:c.947dup XP_011513729.1:p.Val317GlyfsTer7
XM_011515428.1:c.947dup XP_011513730.1:p.Val317GlyfsTer7
XM_011515429.1:c.584dup XP_011513731.1:p.Val196GlyfsTer7
XM_011515430.1:c.584dup XP_011513732.1:p.Val196GlyfsTer7
NM_000535.6:c.902dup NP_000526.2:p.Val302GlyfsTer7
NM_001322003.1:c.497dup NP_001308932.1:p.Val167GlyfsTer7
NM_001322004.1:c.497dup NP_001308933.1:p.Val167GlyfsTer7
NM_001322005.1:c.497dup NP_001308934.1:p.Val167GlyfsTer7
NM_001322006.1:c.902dup NP_001308935.1:p.Val302GlyfsTer7
NM_001322007.1:c.584dup NP_001308936.1:p.Val196GlyfsTer7
NM_001322008.1:c.584dup NP_001308937.1:p.Val196GlyfsTer7
NM_001322009.1:c.497dup NP_001308938.1:p.Val167GlyfsTer7
NM_001322010.1:c.497dup NP_001308939.1:p.Val167GlyfsTer7
NM_001322011.1:c.-32dup NP_001308940.1:n.-32dup
NM_001322012.1:c.-32dup NP_001308941.1:n.-32dup
NM_001322013.1:c.329dup NP_001308942.1:p.Val111GlyfsTer7
NM_001322014.1:c.902dup NP_001308943.1:p.Val302GlyfsTer7
NM_001322015.1:c.593dup NP_001308944.1:p.Val199GlyfsTer7
NR_136154.1:n.989dup
XM_017012342.2:c.-31+1791dup XP_016867831.1:n.-31+1791dup
XM_024446800.1:c.497dup XP_024302568.1:p.Val167GlyfsTer7
NM_000535.7:c.902dup MANE Select NP_000526.2:p.Val302GlyfsTer7
NM_001322003.2:c.497dup NP_001308932.1:p.Val167GlyfsTer7
NM_001322004.2:c.497dup NP_001308933.1:p.Val167GlyfsTer7
NM_001322005.2:c.497dup NP_001308934.1:p.Val167GlyfsTer7
NM_001322006.2:c.902dup NP_001308935.1:p.Val302GlyfsTer7
NM_001322008.2:c.584dup NP_001308937.1:p.Val196GlyfsTer7
NM_001322009.2:c.497dup NP_001308938.1:p.Val167GlyfsTer7
NM_001322010.2:c.497dup NP_001308939.1:p.Val167GlyfsTer7
NM_001322011.2:c.-32dup NP_001308940.1:n.-32dup
NM_001322012.2:c.-32dup NP_001308941.1:n.-32dup
NM_001322013.2:c.329dup NP_001308942.1:p.Val111GlyfsTer7
NM_001322014.2:c.902dup NP_001308943.1:p.Val302GlyfsTer7
NM_001322015.2:c.593dup NP_001308944.1:p.Val199GlyfsTer7
NM_001322007.2:c.584dup NP_001308936.1:p.Val196GlyfsTer7