Canonical Allele Identifier: CA915944872
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 822197
ClinVar RCV Id: RCV001017352 RCV001382293 RCV003455097
dbSNP Id: rs1583334346
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5989833_5989834del , CM000669.2:g.5989833_5989834del GRCh38
NC_000007.13:g.6029464_6029465del , CM000669.1:g.6029464_6029465del GRCh37
NC_000007.12:g.5995990_5995991del NCBI36
NG_008466.1:g.24274_24275del , LRG_161:g.24274_24275del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*507_*508del ENSP00000514615.2:n.*507_*508del
ENST00000699840.2:c.1108_1109del ENSP00000514638.2:p.Asn370CysfsTer10
ENST00000699930.2:c.1003_1004del ENSP00000514695.2:p.Asn335CysfsTer10
ENST00000406569.8:c.1111_1112del ENSP00000514464.1:p.Asn371CysfsTer10
ENST00000644110.2:c.*705_*706del ENSP00000496392.2:n.*705_*706del
ENST00000699752.1:c.988+2140_988+2141del ENSP00000514561.1:n.988+2140_988+2141del
ENST00000699753.1:c.*532_*533del ENSP00000514562.1:n.*532_*533del
ENST00000699754.1:c.913_914del ENSP00000514563.1:p.Asn305CysfsTer10
ENST00000699755.1:c.*510_*511del ENSP00000514564.1:n.*510_*511del
ENST00000699756.1:c.*698_*699del ENSP00000514565.1:n.*698_*699del
ENST00000699757.1:c.*368_*369del ENSP00000514566.1:n.*368_*369del
ENST00000699758.1:c.*368_*369del ENSP00000514567.1:n.*368_*369del
ENST00000699759.1:n.1965_1966del
ENST00000699760.1:c.793_794del ENSP00000514568.1:p.Asn265CysfsTer10
ENST00000699761.1:c.706_707del ENSP00000514569.1:p.Asn236CysfsTer10
ENST00000699762.1:c.538_539del ENSP00000514570.1:p.Asn180CysfsTer10
ENST00000699763.1:c.*201_*202del ENSP00000514571.1:n.*201_*202del
ENST00000699764.1:c.1111_1112del ENSP00000514572.1:p.Asn371CysfsTer10
ENST00000699765.1:c.*207_*208del ENSP00000514573.1:n.*207_*208del
ENST00000699766.1:c.1111_1112del ENSP00000514574.1:p.Asn371CysfsTer10
ENST00000699767.1:c.1111_1112del ENSP00000514575.1:p.Asn371CysfsTer10
ENST00000699768.1:c.1111_1112del ENSP00000514576.1:p.Asn371CysfsTer10
ENST00000699811.1:c.706_707del ENSP00000514614.1:p.Asn236CysfsTer10
ENST00000699813.1:n.1224_1225del
ENST00000699814.1:c.734_735del
ENST00000699815.1:c.*603_*604del ENSP00000514616.1:n.*603_*604del
ENST00000699816.1:c.706_707del ENSP00000514617.1:p.Asn236CysfsTer10
ENST00000699817.1:c.*705_*706del ENSP00000514618.1:n.*705_*706del
ENST00000699818.1:c.706_707del ENSP00000514619.1:p.Asn236CysfsTer10
ENST00000699819.1:c.*268_*269del ENSP00000514620.1:n.*268_*269del
ENST00000699820.1:c.1111_1112del ENSP00000514621.1:p.Asn371CysfsTer10
ENST00000699821.1:c.706_707del ENSP00000514622.1:p.Asn236CysfsTer10
ENST00000699822.1:c.*563_*564del ENSP00000514623.1:n.*563_*564del
ENST00000699823.1:c.706_707del ENSP00000514624.1:p.Asn236CysfsTer10
ENST00000699824.1:c.*614_*615del ENSP00000514625.1:n.*614_*615del
ENST00000699825.1:c.583+2140_583+2141del ENSP00000514626.1:n.583+2140_583+2141del
ENST00000699826.1:c.*510_*511del ENSP00000514627.1:n.*510_*511del
ENST00000699827.1:c.943_944del ENSP00000514628.1:p.Asn315CysfsTer10
ENST00000699828.1:c.*201_*202del ENSP00000514629.1:n.*201_*202del
ENST00000699829.1:c.*612_*613del ENSP00000514630.1:n.*612_*613del
ENST00000699830.1:c.*510_*511del ENSP00000514631.1:n.*510_*511del
ENST00000699833.1:n.2883_2884del
ENST00000699837.1:c.706_707del ENSP00000514635.1:p.Asn236CysfsTer10
ENST00000699838.1:c.*1011_*1012del ENSP00000514636.1:n.*1011_*1012del
ENST00000699839.1:c.1297_1298del ENSP00000514637.1:p.Asn433CysfsTer10
ENST00000699840.1:c.1108_1109del ENSP00000514638.1:p.Asn370CysfsTer10
ENST00000699916.1:c.*368_*369del ENSP00000514684.1:n.*368_*369del
ENST00000699917.1:c.*560_*561del ENSP00000514685.1:n.*560_*561del
ENST00000699918.1:c.*612_*613del ENSP00000514686.1:n.*612_*613del
ENST00000699919.1:c.*698_*699del ENSP00000514687.1:n.*698_*699del
ENST00000699920.1:c.*747_*748del ENSP00000514688.1:n.*747_*748del
ENST00000699928.1:c.988+2140_988+2141del ENSP00000514693.1:n.988+2140_988+2141del
ENST00000699929.1:c.*412_*413del ENSP00000514694.1:n.*412_*413del
ENST00000699930.1:c.1003_1004del ENSP00000514695.1:p.Asn335CysfsTer10
ENST00000699931.1:n.2539_2540del
ENST00000699932.1:c.*329_*330del ENSP00000514696.1:n.*329_*330del
ENST00000699933.1:n.1091_1092del
ENST00000699951.1:c.*207_*208del ENSP00000514706.1:n.*207_*208del
ENST00000699952.1:c.803+7493_803+7494del ENSP00000514707.1:n.803+7493_803+7494del
ENST00000699953.1:c.*218_*219del ENSP00000514708.1:n.*218_*219del
ENST00000699954.1:c.*412_*413del ENSP00000514709.1:n.*412_*413del
ENST00000265849.12:c.1111_1112del MANE Select ENSP00000265849.7:p.Asn371CysfsTer10
ENST00000642292.1:c.706_707del ENSP00000495524.1:p.Asn236CysfsTer10
ENST00000642456.1:c.706_707del ENSP00000493814.1:p.Asn236CysfsTer10
ENST00000643595.1:c.*510_*511del ENSP00000494497.1:n.*510_*511del
ENST00000644110.1:c.793_794del ENSP00000496392.1:p.Asn265CysfsTer10
ENST00000265849.11:c.1111_1112del ENSP00000265849.7:p.Asn371CysfsTer10
ENST00000382321.5:c.804-6842_804-6841del ENSP00000371758.4:n.804-6842_804-6841del
ENST00000406569.7:n.1111_1112del
ENST00000441476.6:c.793_794del ENSP00000392843.2:p.Asn265CysfsTer10
ENST00000469652.1:n.63-6928_63-6927del
NM_000535.5:c.1111_1112del , LRG_161t1:c.1111_1112del NP_000526.1:p.Asn371CysfsTer10
NR_003085.2:n.1193_1194del
XM_006715742.2:c.1105_1106del XP_006715805.1:p.Asn369CysfsTer10
XM_006715744.2:c.178_179del XP_006715807.1:p.Asn60CysfsTer10
XM_011515427.1:c.1156_1157del XP_011513729.1:p.Asn386CysfsTer10
XM_011515428.1:c.1033+2140_1033+2141del XP_011513730.1:n.1033+2140_1033+2141del
XM_011515429.1:c.793_794del XP_011513731.1:p.Asn265CysfsTer10
XM_011515430.1:c.793_794del XP_011513732.1:p.Asn265CysfsTer10
NM_000535.6:c.1111_1112del NP_000526.2:p.Asn371CysfsTer10
NM_001322003.1:c.706_707del NP_001308932.1:p.Asn236CysfsTer10
NM_001322004.1:c.706_707del NP_001308933.1:p.Asn236CysfsTer10
NM_001322005.1:c.706_707del NP_001308934.1:p.Asn236CysfsTer10
NM_001322006.1:c.988+2140_988+2141del NP_001308935.1:n.988+2140_988+2141del
NM_001322007.1:c.793_794del NP_001308936.1:p.Asn265CysfsTer10
NM_001322008.1:c.793_794del NP_001308937.1:p.Asn265CysfsTer10
NM_001322009.1:c.706_707del NP_001308938.1:p.Asn236CysfsTer10
NM_001322010.1:c.583+2140_583+2141del NP_001308939.1:n.583+2140_583+2141del
NM_001322011.1:c.178_179del NP_001308940.1:p.Asn60CysfsTer10
NM_001322012.1:c.178_179del NP_001308941.1:p.Asn60CysfsTer10
NM_001322013.1:c.538_539del NP_001308942.1:p.Asn180CysfsTer10
NM_001322014.1:c.1111_1112del NP_001308943.1:p.Asn371CysfsTer10
NM_001322015.1:c.802_803del NP_001308944.1:p.Asn268CysfsTer10
NR_136154.1:n.1198_1199del
XM_006715744.4:c.178_179del XP_006715807.1:p.Asn60CysfsTer10
XM_017012342.2:c.178_179del XP_016867831.1:p.Asn60CysfsTer10
XM_024446800.1:c.583+2140_583+2141del XP_024302568.1:n.583+2140_583+2141del
NM_000535.7:c.1111_1112del MANE Select NP_000526.2:p.Asn371CysfsTer10
NM_001322003.2:c.706_707del NP_001308932.1:p.Asn236CysfsTer10
NM_001322004.2:c.706_707del NP_001308933.1:p.Asn236CysfsTer10
NM_001322005.2:c.706_707del NP_001308934.1:p.Asn236CysfsTer10
NM_001322006.2:c.988+2140_988+2141del NP_001308935.1:n.988+2140_988+2141del
NM_001322008.2:c.793_794del NP_001308937.1:p.Asn265CysfsTer10
NM_001322009.2:c.706_707del NP_001308938.1:p.Asn236CysfsTer10
NM_001322010.2:c.583+2140_583+2141del NP_001308939.1:n.583+2140_583+2141del
NM_001322011.2:c.178_179del NP_001308940.1:p.Asn60CysfsTer10
NM_001322012.2:c.178_179del NP_001308941.1:p.Asn60CysfsTer10
NM_001322013.2:c.538_539del NP_001308942.1:p.Asn180CysfsTer10
NM_001322014.2:c.1111_1112del NP_001308943.1:p.Asn371CysfsTer10
NM_001322015.2:c.802_803del NP_001308944.1:p.Asn268CysfsTer10
NM_001322007.2:c.793_794del NP_001308936.1:p.Asn265CysfsTer10
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