Canonical Allele Identifier: CA153230412
Gene: PMS2 HGNC NCBI

Linked Data

dbSNP Id: rs745550366
gnomAD v3: 7-5989696-TAA-T
gnomAD v4: 7-5989696-TAA-T
MyVariant Identifiers: chr7:g.6029328_6029329del (hg19) chr7:g.5989697_5989698del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5989697_5989698del , CM000669.2:g.5989697_5989698del GRCh38
NC_000007.13:g.6029328_6029329del , CM000669.1:g.6029328_6029329del GRCh37
NC_000007.12:g.5995854_5995855del NCBI36
NG_008466.1:g.24409_24410del , LRG_161:g.24409_24410del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*540+102_*540+103del ENSP00000514615.2:n.*540+102_*540+103del
ENST00000699840.2:c.1141+102_1141+103del ENSP00000514638.2:n.1141+102_1141+103del
ENST00000699930.2:c.1036+102_1036+103del ENSP00000514695.2:n.1036+102_1036+103del
ENST00000406569.8:c.1144+102_1144+103del ENSP00000514464.1:n.1144+102_1144+103del
ENST00000644110.2:c.*738+102_*738+103del ENSP00000496392.2:n.*738+102_*738+103del
ENST00000699752.1:c.989-2078_989-2077del ENSP00000514561.1:n.989-2078_989-2077del
ENST00000699753.1:c.*565+102_*565+103del ENSP00000514562.1:n.*565+102_*565+103del
ENST00000699754.1:c.946+102_946+103del ENSP00000514563.1:n.946+102_946+103del
ENST00000699755.1:c.*543+102_*543+103del ENSP00000514564.1:n.*543+102_*543+103del
ENST00000699756.1:c.*731+102_*731+103del ENSP00000514565.1:n.*731+102_*731+103del
ENST00000699757.1:c.*401+102_*401+103del ENSP00000514566.1:n.*401+102_*401+103del
ENST00000699758.1:c.*401+102_*401+103del ENSP00000514567.1:n.*401+102_*401+103del
ENST00000699759.1:n.1998+102_1998+103del
ENST00000699760.1:c.826+102_826+103del ENSP00000514568.1:n.826+102_826+103del
ENST00000699761.1:c.739+102_739+103del ENSP00000514569.1:n.739+102_739+103del
ENST00000699762.1:c.571+102_571+103del ENSP00000514570.1:n.571+102_571+103del
ENST00000699763.1:c.*234+102_*234+103del ENSP00000514571.1:n.*234+102_*234+103del
ENST00000699764.1:c.1144+102_1144+103del ENSP00000514572.1:n.1144+102_1144+103del
ENST00000699765.1:c.*240+102_*240+103del ENSP00000514573.1:n.*240+102_*240+103del
ENST00000699766.1:c.1144+102_1144+103del ENSP00000514574.1:n.1144+102_1144+103del
ENST00000699767.1:c.1144+102_1144+103del ENSP00000514575.1:n.1144+102_1144+103del
ENST00000699768.1:c.1144+102_1144+103del ENSP00000514576.1:n.1144+102_1144+103del
ENST00000699811.1:c.739+102_739+103del ENSP00000514614.1:n.739+102_739+103del
ENST00000699813.1:n.1257+102_1257+103del
ENST00000699814.1:c.767+102_767+103del
ENST00000699815.1:c.*636+102_*636+103del ENSP00000514616.1:n.*636+102_*636+103del
ENST00000699816.1:c.739+102_739+103del ENSP00000514617.1:n.739+102_739+103del
ENST00000699817.1:c.*738+102_*738+103del ENSP00000514618.1:n.*738+102_*738+103del
ENST00000699818.1:c.739+102_739+103del ENSP00000514619.1:n.739+102_739+103del
ENST00000699819.1:c.*301+102_*301+103del ENSP00000514620.1:n.*301+102_*301+103del
ENST00000699820.1:c.1144+102_1144+103del ENSP00000514621.1:n.1144+102_1144+103del
ENST00000699821.1:c.739+102_739+103del ENSP00000514622.1:n.739+102_739+103del
ENST00000699822.1:c.*596+102_*596+103del ENSP00000514623.1:n.*596+102_*596+103del
ENST00000699823.1:c.739+102_739+103del ENSP00000514624.1:n.739+102_739+103del
ENST00000699824.1:c.*647+102_*647+103del ENSP00000514625.1:n.*647+102_*647+103del
ENST00000699825.1:c.584-2078_584-2077del ENSP00000514626.1:n.584-2078_584-2077del
ENST00000699826.1:c.*543+102_*543+103del ENSP00000514627.1:n.*543+102_*543+103del
ENST00000699827.1:c.976+102_976+103del ENSP00000514628.1:n.976+102_976+103del
ENST00000699828.1:c.*234+102_*234+103del ENSP00000514629.1:n.*234+102_*234+103del
ENST00000699829.1:c.*645+102_*645+103del ENSP00000514630.1:n.*645+102_*645+103del
ENST00000699830.1:c.*543+102_*543+103del ENSP00000514631.1:n.*543+102_*543+103del
ENST00000699833.1:n.2916+102_2916+103del
ENST00000699837.1:c.739+102_739+103del ENSP00000514635.1:n.739+102_739+103del
ENST00000699838.1:c.*1044+102_*1044+103del ENSP00000514636.1:n.*1044+102_*1044+103de...
ENST00000699839.1:c.1330+102_1330+103del ENSP00000514637.1:n.1330+102_1330+103del
ENST00000699840.1:c.1141+102_1141+103del ENSP00000514638.1:n.1141+102_1141+103del
ENST00000699916.1:c.*401+102_*401+103del ENSP00000514684.1:n.*401+102_*401+103del
ENST00000699917.1:c.*593+102_*593+103del ENSP00000514685.1:n.*593+102_*593+103del
ENST00000699918.1:c.*645+102_*645+103del ENSP00000514686.1:n.*645+102_*645+103del
ENST00000699919.1:c.*731+102_*731+103del ENSP00000514687.1:n.*731+102_*731+103del
ENST00000699920.1:c.*780+102_*780+103del ENSP00000514688.1:n.*780+102_*780+103del
ENST00000699928.1:c.988+2275_988+2276del ENSP00000514693.1:n.988+2275_988+2276del
ENST00000699929.1:c.*445+102_*445+103del ENSP00000514694.1:n.*445+102_*445+103del
ENST00000699930.1:c.1036+102_1036+103del ENSP00000514695.1:n.1036+102_1036+103del
ENST00000699931.1:n.2572+102_2572+103del
ENST00000699932.1:c.*362+102_*362+103del ENSP00000514696.1:n.*362+102_*362+103del
ENST00000699951.1:c.*240+102_*240+103del ENSP00000514706.1:n.*240+102_*240+103del
ENST00000699952.1:c.803+7628_803+7629del ENSP00000514707.1:n.803+7628_803+7629del
ENST00000699953.1:c.*251+102_*251+103del ENSP00000514708.1:n.*251+102_*251+103del
ENST00000699954.1:c.*445+102_*445+103del ENSP00000514709.1:n.*445+102_*445+103del
ENST00000265849.12:c.1144+102_1144+103del MANE Select ENSP00000265849.7:n.1144+102_1144+103del
ENST00000642292.1:c.739+102_739+103del ENSP00000495524.1:n.739+102_739+103del
ENST00000642456.1:c.739+102_739+103del ENSP00000493814.1:n.739+102_739+103del
ENST00000643595.1:c.*543+102_*543+103del ENSP00000494497.1:n.*543+102_*543+103del
ENST00000644110.1:c.826+102_826+103del ENSP00000496392.1:n.826+102_826+103del
ENST00000265849.11:c.1144+102_1144+103del ENSP00000265849.7:n.1144+102_1144+103del
ENST00000382321.5:c.804-6707_804-6706del ENSP00000371758.4:n.804-6707_804-6706del
ENST00000406569.7:n.1144+102_1144+103del
ENST00000441476.6:c.826+102_826+103del ENSP00000392843.2:n.826+102_826+103del
ENST00000469652.1:n.63-6793_63-6792del
NM_000535.5:c.1144+102_1144+103del , LRG_161t1:c.1144+102_1144+103del NP_000526.1:n.1144+102_1144+103del
NR_003085.2:n.1226+102_1226+103del
XM_006715742.2:c.1138+102_1138+103del XP_006715805.1:n.1138+102_1138+103del
XM_006715744.2:c.211+102_211+103del XP_006715807.1:n.211+102_211+103del
XM_011515427.1:c.1189+102_1189+103del XP_011513729.1:n.1189+102_1189+103del
XM_011515428.1:c.1034-2078_1034-2077del XP_011513730.1:n.1034-2078_1034-2077del
XM_011515429.1:c.826+102_826+103del XP_011513731.1:n.826+102_826+103del
XM_011515430.1:c.826+102_826+103del XP_011513732.1:n.826+102_826+103del
NM_000535.6:c.1144+102_1144+103del NP_000526.2:n.1144+102_1144+103del
NM_001322003.1:c.739+102_739+103del NP_001308932.1:n.739+102_739+103del
NM_001322004.1:c.739+102_739+103del NP_001308933.1:n.739+102_739+103del
NM_001322005.1:c.739+102_739+103del NP_001308934.1:n.739+102_739+103del
NM_001322006.1:c.989-2078_989-2077del NP_001308935.1:n.989-2078_989-2077del
NM_001322007.1:c.826+102_826+103del NP_001308936.1:n.826+102_826+103del
NM_001322008.1:c.826+102_826+103del NP_001308937.1:n.826+102_826+103del
NM_001322009.1:c.739+102_739+103del NP_001308938.1:n.739+102_739+103del
NM_001322010.1:c.584-2078_584-2077del NP_001308939.1:n.584-2078_584-2077del
NM_001322011.1:c.211+102_211+103del NP_001308940.1:n.211+102_211+103del
NM_001322012.1:c.211+102_211+103del NP_001308941.1:n.211+102_211+103del
NM_001322013.1:c.571+102_571+103del NP_001308942.1:n.571+102_571+103del
NM_001322014.1:c.1144+102_1144+103del NP_001308943.1:n.1144+102_1144+103del
NM_001322015.1:c.835+102_835+103del NP_001308944.1:n.835+102_835+103del
NR_136154.1:n.1231+102_1231+103del
XM_006715744.4:c.211+102_211+103del XP_006715807.1:n.211+102_211+103del
XM_017012342.2:c.211+102_211+103del XP_016867831.1:n.211+102_211+103del
XM_024446800.1:c.584-2078_584-2077del XP_024302568.1:n.584-2078_584-2077del
NM_000535.7:c.1144+102_1144+103del MANE Select NP_000526.2:n.1144+102_1144+103del
NM_001322003.2:c.739+102_739+103del NP_001308932.1:n.739+102_739+103del
NM_001322004.2:c.739+102_739+103del NP_001308933.1:n.739+102_739+103del
NM_001322005.2:c.739+102_739+103del NP_001308934.1:n.739+102_739+103del
NM_001322006.2:c.989-2078_989-2077del NP_001308935.1:n.989-2078_989-2077del
NM_001322008.2:c.826+102_826+103del NP_001308937.1:n.826+102_826+103del
NM_001322009.2:c.739+102_739+103del NP_001308938.1:n.739+102_739+103del
NM_001322010.2:c.584-2078_584-2077del NP_001308939.1:n.584-2078_584-2077del
NM_001322011.2:c.211+102_211+103del NP_001308940.1:n.211+102_211+103del
NM_001322012.2:c.211+102_211+103del NP_001308941.1:n.211+102_211+103del
NM_001322013.2:c.571+102_571+103del NP_001308942.1:n.571+102_571+103del
NM_001322014.2:c.1144+102_1144+103del NP_001308943.1:n.1144+102_1144+103del
NM_001322015.2:c.835+102_835+103del NP_001308944.1:n.835+102_835+103del
NM_001322007.2:c.826+102_826+103del NP_001308936.1:n.826+102_826+103del
Search 100 bp 5'
Search 100 bp 3'