Canonical Allele Identifier: CA2499218966
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050544
ClinVar RCV Id: RCV001358101
dbSNP Id: rs2128746806

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5989798_5990041del , CM000669.2:g.5989798_5990041del GRCh38
NC_000007.13:g.6029429_6029672del , CM000669.1:g.6029429_6029672del GRCh37
NC_000007.12:g.5995955_5996198del NCBI36
NG_008466.1:g.24067_24310del , LRG_161:g.24067_24310del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*385-85_*540+3del
ENST00000699840.2:c.986-85_1141+3del
ENST00000699930.2:c.881-85_1036+3del
ENST00000406569.8:c.989-85_1144+3del
ENST00000644110.2:c.*583-85_*738+3del
ENST00000699752.1:c.988+1933_989-2177del ENSP00000514561.1:n.988+1933_989-2177del
ENST00000699753.1:c.*410-85_*565+3del
ENST00000699754.1:c.791-85_946+3del
ENST00000699755.1:c.*388-85_*543+3del
ENST00000699756.1:c.*576-85_*731+3del
ENST00000699757.1:c.*246-85_*401+3del
ENST00000699758.1:c.*246-85_*401+3del
ENST00000699759.1:n.1843-85_1998+3del
ENST00000699760.1:c.671-85_826+3del
ENST00000699761.1:c.584-85_739+3del
ENST00000699762.1:c.416-85_571+3del
ENST00000699763.1:c.*79-85_*234+3del
ENST00000699764.1:c.989-85_1144+3del
ENST00000699765.1:c.*85-85_*240+3del
ENST00000699766.1:c.989-85_1144+3del
ENST00000699767.1:c.989-85_1144+3del
ENST00000699768.1:c.989-85_1144+3del
ENST00000699811.1:c.584-85_739+3del
ENST00000699813.1:n.1102-85_1257+3del
ENST00000699814.1:c.612-85_767+3del
ENST00000699815.1:c.*481-85_*636+3del
ENST00000699816.1:c.584-85_739+3del
ENST00000699817.1:c.*583-85_*738+3del
ENST00000699818.1:c.584-85_739+3del
ENST00000699819.1:c.*146-85_*301+3del
ENST00000699820.1:c.989-85_1144+3del
ENST00000699821.1:c.584-85_739+3del
ENST00000699822.1:c.*441-85_*596+3del
ENST00000699823.1:c.584-85_739+3del
ENST00000699824.1:c.*492-85_*647+3del
ENST00000699825.1:c.583+1933_584-2177del ENSP00000514626.1:n.583+1933_584-2177del
ENST00000699826.1:c.*388-85_*543+3del
ENST00000699827.1:c.821-85_976+3del
ENST00000699828.1:c.*79-85_*234+3del
ENST00000699829.1:c.*490-85_*645+3del
ENST00000699830.1:c.*388-85_*543+3del
ENST00000699833.1:n.2761-85_2916+3del
ENST00000699837.1:c.584-85_739+3del
ENST00000699838.1:c.*889-85_*1044+3del
ENST00000699839.1:c.1175-85_1330+3del
ENST00000699840.1:c.986-85_1141+3del
ENST00000699916.1:c.*246-85_*401+3del
ENST00000699917.1:c.*438-85_*593+3del
ENST00000699918.1:c.*490-85_*645+3del
ENST00000699919.1:c.*576-85_*731+3del
ENST00000699920.1:c.*625-85_*780+3del
ENST00000699928.1:c.988+1933_988+2176del ENSP00000514693.1:n.988+1933_988+2176del
ENST00000699929.1:c.*290-85_*445+3del
ENST00000699930.1:c.881-85_1036+3del
ENST00000699931.1:n.2417-85_2572+3del
ENST00000699932.1:c.*207-85_*362+3del
ENST00000699933.1:n.969-85_1127del
ENST00000699951.1:c.*85-85_*240+3del
ENST00000699952.1:c.803+7286_803+7529del ENSP00000514707.1:n.803+7286_803+7529del
ENST00000699953.1:c.*96-85_*251+3del
ENST00000699954.1:c.*290-85_*445+3del
ENST00000265849.12:c.989-85_1144+3del
ENST00000642292.1:c.584-85_739+3del
ENST00000642456.1:c.584-85_739+3del
ENST00000643595.1:c.*388-85_*543+3del
ENST00000644110.1:c.671-85_826+3del
ENST00000265849.11:c.989-85_1144+3del
ENST00000382321.5:c.804-7049_804-6806del ENSP00000371758.4:n.804-7049_804-6806del
ENST00000406569.7:n.989-85_1144+3del
ENST00000441476.6:c.671-85_826+3del
ENST00000469652.1:n.63-7135_63-6892del
NM_000535.5:c.989-85_1144+3del , LRG_161t1:c.989-85_1144+3del
NR_003085.2:n.1071-85_1226+3del
XM_006715742.2:c.983-85_1138+3del
XM_006715744.2:c.56-85_211+3del
XM_011515427.1:c.1034-85_1189+3del
XM_011515428.1:c.1033+1933_1034-2177del XP_011513730.1:n.1033+1933_1034-2177del
XM_011515429.1:c.671-85_826+3del
XM_011515430.1:c.671-85_826+3del
NM_000535.6:c.989-85_1144+3del
NM_001322003.1:c.584-85_739+3del
NM_001322004.1:c.584-85_739+3del
NM_001322005.1:c.584-85_739+3del
NM_001322006.1:c.988+1933_989-2177del NP_001308935.1:n.988+1933_989-2177del
NM_001322007.1:c.671-85_826+3del
NM_001322008.1:c.671-85_826+3del
NM_001322009.1:c.584-85_739+3del
NM_001322010.1:c.583+1933_584-2177del NP_001308939.1:n.583+1933_584-2177del
NM_001322011.1:c.56-85_211+3del
NM_001322012.1:c.56-85_211+3del
NM_001322013.1:c.416-85_571+3del
NM_001322014.1:c.989-85_1144+3del
NM_001322015.1:c.680-85_835+3del
NR_136154.1:n.1076-85_1231+3del
XM_006715744.4:c.56-85_211+3del
XM_017012342.2:c.56-85_211+3del
XM_024446800.1:c.583+1933_584-2177del XP_024302568.1:n.583+1933_584-2177del
NM_000535.7:c.989-85_1144+3del
NM_001322003.2:c.584-85_739+3del
NM_001322004.2:c.584-85_739+3del
NM_001322005.2:c.584-85_739+3del
NM_001322006.2:c.988+1933_989-2177del NP_001308935.1:n.988+1933_989-2177del
NM_001322008.2:c.671-85_826+3del
NM_001322009.2:c.584-85_739+3del
NM_001322010.2:c.583+1933_584-2177del NP_001308939.1:n.583+1933_584-2177del
NM_001322011.2:c.56-85_211+3del
NM_001322012.2:c.56-85_211+3del
NM_001322013.2:c.416-85_571+3del
NM_001322014.2:c.989-85_1144+3del
NM_001322015.2:c.680-85_835+3del
NM_001322007.2:c.671-85_826+3del