Canonical Allele Identifier: CA2580076969
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1770207
ClinVar RCV Id: RCV002387555

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987425_5987435del , CM000669.2:g.5987425_5987435del GRCh38
NC_000007.13:g.6027056_6027066del , CM000669.1:g.6027056_6027066del GRCh37
NC_000007.12:g.5993582_5993592del NCBI36
NG_008466.1:g.26676_26686del , LRG_161:g.26676_26686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*730_*740del ENSP00000514615.2:n.*730_*740del
ENST00000699840.2:c.1331_1341del ENSP00000514638.2:p.Ser444ThrfsTer9
ENST00000699930.2:c.1226_1236del ENSP00000514695.2:p.Ser409ThrfsTer9
ENST00000406569.8:c.1334_1344del ENSP00000514464.1:p.Ser445ThrfsTer9
ENST00000644110.2:c.*928_*938del ENSP00000496392.2:n.*928_*938del
ENST00000699752.1:c.1178_1188del ENSP00000514561.1:p.Ser393ThrfsTer9
ENST00000699753.1:c.*755_*765del ENSP00000514562.1:n.*755_*765del
ENST00000699754.1:c.1136_1146del ENSP00000514563.1:p.Ser379ThrfsTer9
ENST00000699755.1:c.*733_*743del ENSP00000514564.1:n.*733_*743del
ENST00000699756.1:c.*921_*931del ENSP00000514565.1:n.*921_*931del
ENST00000699757.1:c.*591_*601del ENSP00000514566.1:n.*591_*601del
ENST00000699758.1:c.*591_*601del ENSP00000514567.1:n.*591_*601del
ENST00000699759.1:n.2188_2198del
ENST00000699760.1:c.1016_1026del ENSP00000514568.1:p.Ser339ThrfsTer9
ENST00000699761.1:c.929_939del ENSP00000514569.1:p.Ser310ThrfsTer9
ENST00000699762.1:c.761_771del ENSP00000514570.1:p.Ser254ThrfsTer9
ENST00000699763.1:c.*424_*434del ENSP00000514571.1:n.*424_*434del
ENST00000699764.1:c.1334_1344del ENSP00000514572.1:p.Ser445ThrfsTer9
ENST00000699765.1:c.*430_*440del ENSP00000514573.1:n.*430_*440del
ENST00000699766.1:c.1334_1344del ENSP00000514574.1:p.Ser445ThrfsTer9
ENST00000699767.1:c.1334_1344del ENSP00000514575.1:p.Ser445ThrfsTer9
ENST00000699768.1:c.1334_1344del ENSP00000514576.1:p.Ser445ThrfsTer9
ENST00000699811.1:c.929_939del ENSP00000514614.1:p.Ser310ThrfsTer9
ENST00000699813.1:n.1447_1457del
ENST00000699814.1:c.957_967del
ENST00000699815.1:c.*865_*875del ENSP00000514616.1:n.*865_*875del
ENST00000699816.1:c.*224_*234del ENSP00000514617.1:n.*224_*234del
ENST00000699817.1:c.*928_*938del ENSP00000514618.1:n.*928_*938del
ENST00000699818.1:c.929_939del ENSP00000514619.1:p.Ser310ThrfsTer9
ENST00000699819.1:c.*491_*501del ENSP00000514620.1:n.*491_*501del
ENST00000699820.1:c.1144+2369_1144+2379del ENSP00000514621.1:n.1144+2369_1144+2379del
ENST00000699821.1:c.929_939del ENSP00000514622.1:p.Ser310ThrfsTer9
ENST00000699822.1:c.*786_*796del ENSP00000514623.1:n.*786_*796del
ENST00000699823.1:c.929_939del ENSP00000514624.1:p.Ser310ThrfsTer9
ENST00000699824.1:c.*837_*847del ENSP00000514625.1:n.*837_*847del
ENST00000699825.1:c.773_783del ENSP00000514626.1:p.Ser258ThrfsTer9
ENST00000699826.1:c.*733_*743del ENSP00000514627.1:n.*733_*743del
ENST00000699827.1:c.1166_1176del ENSP00000514628.1:p.Ser389ThrfsTer9
ENST00000699828.1:c.*424_*434del ENSP00000514629.1:n.*424_*434del
ENST00000699833.1:n.3106_3116del
ENST00000699837.1:c.929_939del ENSP00000514635.1:p.Ser310ThrfsTer9
ENST00000699838.1:c.*1234_*1244del ENSP00000514636.1:n.*1234_*1244del
ENST00000699839.1:c.1520_1530del ENSP00000514637.1:p.Ser507ThrfsTer9
ENST00000699916.1:c.*591_*601del ENSP00000514684.1:n.*591_*601del
ENST00000699917.1:c.*783_*793del ENSP00000514685.1:n.*783_*793del
ENST00000699918.1:c.*835_*845del ENSP00000514686.1:n.*835_*845del
ENST00000699919.1:c.*921_*931del ENSP00000514687.1:n.*921_*931del
ENST00000699920.1:c.*970_*980del ENSP00000514688.1:n.*970_*980del
ENST00000699928.1:c.989-4440_989-4430del ENSP00000514693.1:n.989-4440_989-4430del
ENST00000699929.1:c.*635_*645del ENSP00000514694.1:n.*635_*645del
ENST00000699930.1:c.1226_1236del ENSP00000514695.1:p.Ser409ThrfsTer9
ENST00000699931.1:n.2762_2772del
ENST00000699951.1:c.*430_*440del ENSP00000514706.1:n.*430_*440del
ENST00000699952.1:c.803+9895_803+9905del ENSP00000514707.1:n.803+9895_803+9905del
ENST00000699953.1:c.*441_*451del ENSP00000514708.1:n.*441_*451del
ENST00000699954.1:c.*635_*645del ENSP00000514709.1:n.*635_*645del
ENST00000265849.12:c.1334_1344del MANE Select ENSP00000265849.7:p.Ser445ThrfsTer9
ENST00000642292.1:c.929_939del ENSP00000495524.1:p.Ser310ThrfsTer9
ENST00000642456.1:c.929_939del ENSP00000493814.1:p.Ser310ThrfsTer9
ENST00000643595.1:c.*733_*743del ENSP00000494497.1:n.*733_*743del
ENST00000644110.1:c.1016_1026del ENSP00000496392.1:p.Ser339ThrfsTer9
ENST00000265849.11:c.1334_1344del ENSP00000265849.7:p.Ser445ThrfsTer9
ENST00000382321.5:c.804-4440_804-4430del ENSP00000371758.4:n.804-4440_804-4430del
ENST00000406569.7:n.1334_1344del
ENST00000441476.6:c.1016_1026del ENSP00000392843.2:p.Ser339ThrfsTer9
ENST00000469652.1:n.63-4526_63-4516del
NM_000535.5:c.1334_1344del , LRG_161t1:c.1334_1344del NP_000526.1:p.Ser445ThrfsTer9
NR_003085.2:n.1416_1426del
XM_006715742.2:c.1328_1338del XP_006715805.1:p.Ser443ThrfsTer9
XM_006715744.2:c.401_411del XP_006715807.1:p.Ser134ThrfsTer9
XM_011515427.1:c.1379_1389del XP_011513729.1:p.Ser460ThrfsTer9
XM_011515428.1:c.1223_1233del XP_011513730.1:p.Ser408ThrfsTer9
XM_011515429.1:c.1016_1026del XP_011513731.1:p.Ser339ThrfsTer9
XM_011515430.1:c.1016_1026del XP_011513732.1:p.Ser339ThrfsTer9
NM_000535.6:c.1334_1344del NP_000526.2:p.Ser445ThrfsTer9
NM_001322003.1:c.929_939del NP_001308932.1:p.Ser310ThrfsTer9
NM_001322004.1:c.929_939del NP_001308933.1:p.Ser310ThrfsTer9
NM_001322005.1:c.929_939del NP_001308934.1:p.Ser310ThrfsTer9
NM_001322006.1:c.1178_1188del NP_001308935.1:p.Ser393ThrfsTer9
NM_001322007.1:c.1016_1026del NP_001308936.1:p.Ser339ThrfsTer9
NM_001322008.1:c.1016_1026del NP_001308937.1:p.Ser339ThrfsTer9
NM_001322009.1:c.929_939del NP_001308938.1:p.Ser310ThrfsTer9
NM_001322010.1:c.773_783del NP_001308939.1:p.Ser258ThrfsTer9
NM_001322011.1:c.401_411del NP_001308940.1:p.Ser134ThrfsTer9
NM_001322012.1:c.401_411del NP_001308941.1:p.Ser134ThrfsTer9
NM_001322013.1:c.761_771del NP_001308942.1:p.Ser254ThrfsTer9
NM_001322014.1:c.1334_1344del NP_001308943.1:p.Ser445ThrfsTer9
NM_001322015.1:c.1025_1035del NP_001308944.1:p.Ser342ThrfsTer9
NR_136154.1:n.1421_1431del
XM_006715744.4:c.401_411del XP_006715807.1:p.Ser134ThrfsTer9
XM_017012342.2:c.401_411del XP_016867831.1:p.Ser134ThrfsTer9
XM_024446800.1:c.773_783del XP_024302568.1:p.Ser258ThrfsTer9
NM_000535.7:c.1334_1344del MANE Select NP_000526.2:p.Ser445ThrfsTer9
NM_001322003.2:c.929_939del NP_001308932.1:p.Ser310ThrfsTer9
NM_001322004.2:c.929_939del NP_001308933.1:p.Ser310ThrfsTer9
NM_001322005.2:c.929_939del NP_001308934.1:p.Ser310ThrfsTer9
NM_001322006.2:c.1178_1188del NP_001308935.1:p.Ser393ThrfsTer9
NM_001322008.2:c.1016_1026del NP_001308937.1:p.Ser339ThrfsTer9
NM_001322009.2:c.929_939del NP_001308938.1:p.Ser310ThrfsTer9
NM_001322010.2:c.773_783del NP_001308939.1:p.Ser258ThrfsTer9
NM_001322011.2:c.401_411del NP_001308940.1:p.Ser134ThrfsTer9
NM_001322012.2:c.401_411del NP_001308941.1:p.Ser134ThrfsTer9
NM_001322013.2:c.761_771del NP_001308942.1:p.Ser254ThrfsTer9
NM_001322014.2:c.1334_1344del NP_001308943.1:p.Ser445ThrfsTer9
NM_001322015.2:c.1025_1035del NP_001308944.1:p.Ser342ThrfsTer9
NM_001322007.2:c.1016_1026del NP_001308936.1:p.Ser339ThrfsTer9