Canonical Allele Identifier: CA891842813
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 568315
ClinVar RCV Id: RCV000688634
dbSNP Id: rs1562634737

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987454dup , CM000669.2:g.5987454dup GRCh38
NC_000007.13:g.6027085dup , CM000669.1:g.6027085dup GRCh37
NC_000007.12:g.5993611dup NCBI36
NG_008466.1:g.26655dup , LRG_161:g.26655dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*709dup ENSP00000514615.2:n.*709dup
ENST00000699840.2:c.1310dup ENSP00000514638.2:p.Thr438AspfsTer19
ENST00000699930.2:c.1205dup ENSP00000514695.2:p.Thr403AspfsTer19
ENST00000406569.8:c.1313dup ENSP00000514464.1:p.Thr439AspfsTer19
ENST00000644110.2:c.*907dup ENSP00000496392.2:n.*907dup
ENST00000699752.1:c.1157dup ENSP00000514561.1:p.Thr387AspfsTer19
ENST00000699753.1:c.*734dup ENSP00000514562.1:n.*734dup
ENST00000699754.1:c.1115dup ENSP00000514563.1:p.Thr373AspfsTer19
ENST00000699755.1:c.*712dup ENSP00000514564.1:n.*712dup
ENST00000699756.1:c.*900dup ENSP00000514565.1:n.*900dup
ENST00000699757.1:c.*570dup ENSP00000514566.1:n.*570dup
ENST00000699758.1:c.*570dup ENSP00000514567.1:n.*570dup
ENST00000699759.1:n.2167dup
ENST00000699760.1:c.995dup ENSP00000514568.1:p.Thr333AspfsTer19
ENST00000699761.1:c.908dup ENSP00000514569.1:p.Thr304AspfsTer19
ENST00000699762.1:c.740dup ENSP00000514570.1:p.Thr248AspfsTer19
ENST00000699763.1:c.*403dup ENSP00000514571.1:n.*403dup
ENST00000699764.1:c.1313dup ENSP00000514572.1:p.Thr439AspfsTer19
ENST00000699765.1:c.*409dup ENSP00000514573.1:n.*409dup
ENST00000699766.1:c.1313dup ENSP00000514574.1:p.Thr439AspfsTer19
ENST00000699767.1:c.1313dup ENSP00000514575.1:p.Thr439AspfsTer19
ENST00000699768.1:c.1313dup ENSP00000514576.1:p.Thr439AspfsTer19
ENST00000699811.1:c.908dup ENSP00000514614.1:p.Thr304AspfsTer19
ENST00000699813.1:n.1426dup
ENST00000699814.1:c.936dup
ENST00000699815.1:c.*844dup ENSP00000514616.1:n.*844dup
ENST00000699816.1:c.*203dup ENSP00000514617.1:n.*203dup
ENST00000699817.1:c.*907dup ENSP00000514618.1:n.*907dup
ENST00000699818.1:c.908dup ENSP00000514619.1:p.Thr304AspfsTer19
ENST00000699819.1:c.*470dup ENSP00000514620.1:n.*470dup
ENST00000699820.1:c.1144+2348dup ENSP00000514621.1:n.1144+2348dup
ENST00000699821.1:c.908dup ENSP00000514622.1:p.Thr304AspfsTer19
ENST00000699822.1:c.*765dup ENSP00000514623.1:n.*765dup
ENST00000699823.1:c.908dup ENSP00000514624.1:p.Thr304AspfsTer19
ENST00000699824.1:c.*816dup ENSP00000514625.1:n.*816dup
ENST00000699825.1:c.752dup ENSP00000514626.1:p.Thr252AspfsTer19
ENST00000699826.1:c.*712dup ENSP00000514627.1:n.*712dup
ENST00000699827.1:c.1145dup ENSP00000514628.1:p.Thr383AspfsTer19
ENST00000699828.1:c.*403dup ENSP00000514629.1:n.*403dup
ENST00000699833.1:n.3085dup
ENST00000699837.1:c.908dup ENSP00000514635.1:p.Thr304AspfsTer19
ENST00000699838.1:c.*1213dup ENSP00000514636.1:n.*1213dup
ENST00000699839.1:c.1499dup ENSP00000514637.1:p.Thr501AspfsTer19
ENST00000699916.1:c.*570dup ENSP00000514684.1:n.*570dup
ENST00000699917.1:c.*762dup ENSP00000514685.1:n.*762dup
ENST00000699918.1:c.*814dup ENSP00000514686.1:n.*814dup
ENST00000699919.1:c.*900dup ENSP00000514687.1:n.*900dup
ENST00000699920.1:c.*949dup ENSP00000514688.1:n.*949dup
ENST00000699928.1:c.989-4461dup ENSP00000514693.1:n.989-4461dup
ENST00000699929.1:c.*614dup ENSP00000514694.1:n.*614dup
ENST00000699930.1:c.1205dup ENSP00000514695.1:p.Thr403AspfsTer19
ENST00000699931.1:n.2741dup
ENST00000699951.1:c.*409dup ENSP00000514706.1:n.*409dup
ENST00000699952.1:c.803+9874dup ENSP00000514707.1:n.803+9874dup
ENST00000699953.1:c.*420dup ENSP00000514708.1:n.*420dup
ENST00000699954.1:c.*614dup ENSP00000514709.1:n.*614dup
ENST00000265849.12:c.1313dup MANE Select ENSP00000265849.7:p.Thr439AspfsTer19
ENST00000642292.1:c.908dup ENSP00000495524.1:p.Thr304AspfsTer19
ENST00000642456.1:c.908dup ENSP00000493814.1:p.Thr304AspfsTer19
ENST00000643595.1:c.*712dup ENSP00000494497.1:n.*712dup
ENST00000644110.1:c.995dup ENSP00000496392.1:p.Thr333AspfsTer19
ENST00000265849.11:c.1313dup ENSP00000265849.7:p.Thr439AspfsTer19
ENST00000382321.5:c.804-4461dup ENSP00000371758.4:n.804-4461dup
ENST00000406569.7:n.1313dup
ENST00000441476.6:c.995dup ENSP00000392843.2:p.Thr333AspfsTer19
ENST00000469652.1:n.63-4547dup
NM_000535.5:c.1313dup , LRG_161t1:c.1313dup NP_000526.1:p.Thr439AspfsTer19
NR_003085.2:n.1395dup
XM_006715742.2:c.1307dup XP_006715805.1:p.Thr437AspfsTer19
XM_006715744.2:c.380dup XP_006715807.1:p.Thr128AspfsTer19
XM_011515427.1:c.1358dup XP_011513729.1:p.Thr454AspfsTer19
XM_011515428.1:c.1202dup XP_011513730.1:p.Thr402AspfsTer19
XM_011515429.1:c.995dup XP_011513731.1:p.Thr333AspfsTer19
XM_011515430.1:c.995dup XP_011513732.1:p.Thr333AspfsTer19
NM_000535.6:c.1313dup NP_000526.2:p.Thr439AspfsTer19
NM_001322003.1:c.908dup NP_001308932.1:p.Thr304AspfsTer19
NM_001322004.1:c.908dup NP_001308933.1:p.Thr304AspfsTer19
NM_001322005.1:c.908dup NP_001308934.1:p.Thr304AspfsTer19
NM_001322006.1:c.1157dup NP_001308935.1:p.Thr387AspfsTer19
NM_001322007.1:c.995dup NP_001308936.1:p.Thr333AspfsTer19
NM_001322008.1:c.995dup NP_001308937.1:p.Thr333AspfsTer19
NM_001322009.1:c.908dup NP_001308938.1:p.Thr304AspfsTer19
NM_001322010.1:c.752dup NP_001308939.1:p.Thr252AspfsTer19
NM_001322011.1:c.380dup NP_001308940.1:p.Thr128AspfsTer19
NM_001322012.1:c.380dup NP_001308941.1:p.Thr128AspfsTer19
NM_001322013.1:c.740dup NP_001308942.1:p.Thr248AspfsTer19
NM_001322014.1:c.1313dup NP_001308943.1:p.Thr439AspfsTer19
NM_001322015.1:c.1004dup NP_001308944.1:p.Thr336AspfsTer19
NR_136154.1:n.1400dup
XM_006715744.4:c.380dup XP_006715807.1:p.Thr128AspfsTer19
XM_017012342.2:c.380dup XP_016867831.1:p.Thr128AspfsTer19
XM_024446800.1:c.752dup XP_024302568.1:p.Thr252AspfsTer19
NM_000535.7:c.1313dup MANE Select NP_000526.2:p.Thr439AspfsTer19
NM_001322003.2:c.908dup NP_001308932.1:p.Thr304AspfsTer19
NM_001322004.2:c.908dup NP_001308933.1:p.Thr304AspfsTer19
NM_001322005.2:c.908dup NP_001308934.1:p.Thr304AspfsTer19
NM_001322006.2:c.1157dup NP_001308935.1:p.Thr387AspfsTer19
NM_001322008.2:c.995dup NP_001308937.1:p.Thr333AspfsTer19
NM_001322009.2:c.908dup NP_001308938.1:p.Thr304AspfsTer19
NM_001322010.2:c.752dup NP_001308939.1:p.Thr252AspfsTer19
NM_001322011.2:c.380dup NP_001308940.1:p.Thr128AspfsTer19
NM_001322012.2:c.380dup NP_001308941.1:p.Thr128AspfsTer19
NM_001322013.2:c.740dup NP_001308942.1:p.Thr248AspfsTer19
NM_001322014.2:c.1313dup NP_001308943.1:p.Thr439AspfsTer19
NM_001322015.2:c.1004dup NP_001308944.1:p.Thr336AspfsTer19
NM_001322007.2:c.995dup NP_001308936.1:p.Thr333AspfsTer19