Canonical Allele Identifier: CA2695202935
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987453_5987454del , CM000669.2:g.5987453_5987454del GRCh38
NC_000007.13:g.6027084_6027085del , CM000669.1:g.6027084_6027085del GRCh37
NC_000007.12:g.5993610_5993611del NCBI36
NG_008466.1:g.26654_26655del , LRG_161:g.26654_26655del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*708_*709del ENSP00000514615.2:n.*708_*709del
ENST00000699840.2:c.1309_1310del ENSP00000514638.2:p.Lys437AspfsTer19
ENST00000699930.2:c.1204_1205del ENSP00000514695.2:p.Lys402AspfsTer19
ENST00000406569.8:c.1312_1313del ENSP00000514464.1:p.Lys438AspfsTer19
ENST00000644110.2:c.*906_*907del ENSP00000496392.2:n.*906_*907del
ENST00000699752.1:c.1156_1157del ENSP00000514561.1:p.Lys386AspfsTer19
ENST00000699753.1:c.*733_*734del ENSP00000514562.1:n.*733_*734del
ENST00000699754.1:c.1114_1115del ENSP00000514563.1:p.Lys372AspfsTer19
ENST00000699755.1:c.*711_*712del ENSP00000514564.1:n.*711_*712del
ENST00000699756.1:c.*899_*900del ENSP00000514565.1:n.*899_*900del
ENST00000699757.1:c.*569_*570del ENSP00000514566.1:n.*569_*570del
ENST00000699758.1:c.*569_*570del ENSP00000514567.1:n.*569_*570del
ENST00000699759.1:n.2166_2167del
ENST00000699760.1:c.994_995del ENSP00000514568.1:p.Lys332AspfsTer19
ENST00000699761.1:c.907_908del ENSP00000514569.1:p.Lys303AspfsTer19
ENST00000699762.1:c.739_740del ENSP00000514570.1:p.Lys247AspfsTer19
ENST00000699763.1:c.*402_*403del ENSP00000514571.1:n.*402_*403del
ENST00000699764.1:c.1312_1313del ENSP00000514572.1:p.Lys438AspfsTer19
ENST00000699765.1:c.*408_*409del ENSP00000514573.1:n.*408_*409del
ENST00000699766.1:c.1312_1313del ENSP00000514574.1:p.Lys438AspfsTer19
ENST00000699767.1:c.1312_1313del ENSP00000514575.1:p.Lys438AspfsTer19
ENST00000699768.1:c.1312_1313del ENSP00000514576.1:p.Lys438AspfsTer19
ENST00000699811.1:c.907_908del ENSP00000514614.1:p.Lys303AspfsTer19
ENST00000699813.1:n.1425_1426del
ENST00000699814.1:c.935_936del
ENST00000699815.1:c.*843_*844del ENSP00000514616.1:n.*843_*844del
ENST00000699816.1:c.*202_*203del ENSP00000514617.1:n.*202_*203del
ENST00000699817.1:c.*906_*907del ENSP00000514618.1:n.*906_*907del
ENST00000699818.1:c.907_908del ENSP00000514619.1:p.Lys303AspfsTer19
ENST00000699819.1:c.*469_*470del ENSP00000514620.1:n.*469_*470del
ENST00000699820.1:c.1144+2347_1144+2348del ENSP00000514621.1:n.1144+2347_1144+2348del
ENST00000699821.1:c.907_908del ENSP00000514622.1:p.Lys303AspfsTer19
ENST00000699822.1:c.*764_*765del ENSP00000514623.1:n.*764_*765del
ENST00000699823.1:c.907_908del ENSP00000514624.1:p.Lys303AspfsTer19
ENST00000699824.1:c.*815_*816del ENSP00000514625.1:n.*815_*816del
ENST00000699825.1:c.751_752del ENSP00000514626.1:p.Lys251AspfsTer19
ENST00000699826.1:c.*711_*712del ENSP00000514627.1:n.*711_*712del
ENST00000699827.1:c.1144_1145del ENSP00000514628.1:p.Lys382AspfsTer19
ENST00000699828.1:c.*402_*403del ENSP00000514629.1:n.*402_*403del
ENST00000699833.1:n.3084_3085del
ENST00000699837.1:c.907_908del ENSP00000514635.1:p.Lys303AspfsTer19
ENST00000699838.1:c.*1212_*1213del ENSP00000514636.1:n.*1212_*1213del
ENST00000699839.1:c.1498_1499del ENSP00000514637.1:p.Lys500AspfsTer19
ENST00000699916.1:c.*569_*570del ENSP00000514684.1:n.*569_*570del
ENST00000699917.1:c.*761_*762del ENSP00000514685.1:n.*761_*762del
ENST00000699918.1:c.*813_*814del ENSP00000514686.1:n.*813_*814del
ENST00000699919.1:c.*899_*900del ENSP00000514687.1:n.*899_*900del
ENST00000699920.1:c.*948_*949del ENSP00000514688.1:n.*948_*949del
ENST00000699928.1:c.989-4462_989-4461del ENSP00000514693.1:n.989-4462_989-4461del
ENST00000699929.1:c.*613_*614del ENSP00000514694.1:n.*613_*614del
ENST00000699930.1:c.1204_1205del ENSP00000514695.1:p.Lys402AspfsTer19
ENST00000699931.1:n.2740_2741del
ENST00000699951.1:c.*408_*409del ENSP00000514706.1:n.*408_*409del
ENST00000699952.1:c.803+9873_803+9874del ENSP00000514707.1:n.803+9873_803+9874del
ENST00000699953.1:c.*419_*420del ENSP00000514708.1:n.*419_*420del
ENST00000699954.1:c.*613_*614del ENSP00000514709.1:n.*613_*614del
ENST00000265849.12:c.1312_1313del MANE Select ENSP00000265849.7:p.Lys438AspfsTer19
ENST00000642292.1:c.907_908del ENSP00000495524.1:p.Lys303AspfsTer19
ENST00000642456.1:c.907_908del ENSP00000493814.1:p.Lys303AspfsTer19
ENST00000643595.1:c.*711_*712del ENSP00000494497.1:n.*711_*712del
ENST00000644110.1:c.994_995del ENSP00000496392.1:p.Lys332AspfsTer19
ENST00000265849.11:c.1312_1313del ENSP00000265849.7:p.Lys438AspfsTer19
ENST00000382321.5:c.804-4462_804-4461del ENSP00000371758.4:n.804-4462_804-4461del
ENST00000406569.7:n.1312_1313del
ENST00000441476.6:c.994_995del ENSP00000392843.2:p.Lys332AspfsTer19
ENST00000469652.1:n.63-4548_63-4547del
NM_000535.5:c.1312_1313del , LRG_161t1:c.1312_1313del NP_000526.1:p.Lys438AspfsTer19
NR_003085.2:n.1394_1395del
XM_006715742.2:c.1306_1307del XP_006715805.1:p.Lys436AspfsTer19
XM_006715744.2:c.379_380del XP_006715807.1:p.Lys127AspfsTer19
XM_011515427.1:c.1357_1358del XP_011513729.1:p.Lys453AspfsTer19
XM_011515428.1:c.1201_1202del XP_011513730.1:p.Lys401AspfsTer19
XM_011515429.1:c.994_995del XP_011513731.1:p.Lys332AspfsTer19
XM_011515430.1:c.994_995del XP_011513732.1:p.Lys332AspfsTer19
NM_000535.6:c.1312_1313del NP_000526.2:p.Lys438AspfsTer19
NM_001322003.1:c.907_908del NP_001308932.1:p.Lys303AspfsTer19
NM_001322004.1:c.907_908del NP_001308933.1:p.Lys303AspfsTer19
NM_001322005.1:c.907_908del NP_001308934.1:p.Lys303AspfsTer19
NM_001322006.1:c.1156_1157del NP_001308935.1:p.Lys386AspfsTer19
NM_001322007.1:c.994_995del NP_001308936.1:p.Lys332AspfsTer19
NM_001322008.1:c.994_995del NP_001308937.1:p.Lys332AspfsTer19
NM_001322009.1:c.907_908del NP_001308938.1:p.Lys303AspfsTer19
NM_001322010.1:c.751_752del NP_001308939.1:p.Lys251AspfsTer19
NM_001322011.1:c.379_380del NP_001308940.1:p.Lys127AspfsTer19
NM_001322012.1:c.379_380del NP_001308941.1:p.Lys127AspfsTer19
NM_001322013.1:c.739_740del NP_001308942.1:p.Lys247AspfsTer19
NM_001322014.1:c.1312_1313del NP_001308943.1:p.Lys438AspfsTer19
NM_001322015.1:c.1003_1004del NP_001308944.1:p.Lys335AspfsTer19
NR_136154.1:n.1399_1400del
XM_006715744.4:c.379_380del XP_006715807.1:p.Lys127AspfsTer19
XM_017012342.2:c.379_380del XP_016867831.1:p.Lys127AspfsTer19
XM_024446800.1:c.751_752del XP_024302568.1:p.Lys251AspfsTer19
NM_000535.7:c.1312_1313del MANE Select NP_000526.2:p.Lys438AspfsTer19
NM_001322003.2:c.907_908del NP_001308932.1:p.Lys303AspfsTer19
NM_001322004.2:c.907_908del NP_001308933.1:p.Lys303AspfsTer19
NM_001322005.2:c.907_908del NP_001308934.1:p.Lys303AspfsTer19
NM_001322006.2:c.1156_1157del NP_001308935.1:p.Lys386AspfsTer19
NM_001322008.2:c.994_995del NP_001308937.1:p.Lys332AspfsTer19
NM_001322009.2:c.907_908del NP_001308938.1:p.Lys303AspfsTer19
NM_001322010.2:c.751_752del NP_001308939.1:p.Lys251AspfsTer19
NM_001322011.2:c.379_380del NP_001308940.1:p.Lys127AspfsTer19
NM_001322012.2:c.379_380del NP_001308941.1:p.Lys127AspfsTer19
NM_001322013.2:c.739_740del NP_001308942.1:p.Lys247AspfsTer19
NM_001322014.2:c.1312_1313del NP_001308943.1:p.Lys438AspfsTer19
NM_001322015.2:c.1003_1004del NP_001308944.1:p.Lys335AspfsTer19
NM_001322007.2:c.994_995del NP_001308936.1:p.Lys332AspfsTer19