Canonical Allele Identifier: CA2499218967

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1049209
• ClinVar RCV Id: RCV001355016
• dbSNP Id: rs2128746824

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989798_5989956del , CM000669.2:g.5989798_5989956del	GRCh38
NC_000007.13:g.6029429_6029587del , CM000669.1:g.6029429_6029587del	GRCh37
NC_000007.12:g.5995955_5996113del	NCBI36
NG_008466.1:g.24151_24309del , LRG_161:g.24151_24309del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*385-1_*540+2del
ENST00000699840.2:c.986-1_1141+2del
ENST00000699930.2:c.881-1_1036+2del
ENST00000406569.8:c.989-1_1144+2del
ENST00000644110.2:c.*583-1_*738+2del
ENST00000699752.1:c.988+2017_988+2175del	ENSP00000514561.1:n.988+2017_988+2175del
ENST00000699753.1:c.*410-1_*565+2del
ENST00000699754.1:c.791-1_946+2del
ENST00000699755.1:c.*388-1_*543+2del
ENST00000699756.1:c.*576-1_*731+2del
ENST00000699757.1:c.*246-1_*401+2del
ENST00000699758.1:c.*246-1_*401+2del
ENST00000699759.1:n.1843-1_1998+2del
ENST00000699760.1:c.671-1_826+2del
ENST00000699761.1:c.584-1_739+2del
ENST00000699762.1:c.416-1_571+2del
ENST00000699763.1:c.*79-1_*234+2del
ENST00000699764.1:c.989-1_1144+2del
ENST00000699765.1:c.*85-1_*240+2del
ENST00000699766.1:c.989-1_1144+2del
ENST00000699767.1:c.989-1_1144+2del
ENST00000699768.1:c.989-1_1144+2del
ENST00000699811.1:c.584-1_739+2del
ENST00000699813.1:n.1102-1_1257+2del
ENST00000699814.1:c.612-1_767+2del
ENST00000699815.1:c.*481-1_*636+2del
ENST00000699816.1:c.584-1_739+2del
ENST00000699817.1:c.*583-1_*738+2del
ENST00000699818.1:c.584-1_739+2del
ENST00000699819.1:c.*146-1_*301+2del
ENST00000699820.1:c.989-1_1144+2del
ENST00000699821.1:c.584-1_739+2del
ENST00000699822.1:c.*441-1_*596+2del
ENST00000699823.1:c.584-1_739+2del
ENST00000699824.1:c.*492-1_*647+2del
ENST00000699825.1:c.583+2017_583+2175del	ENSP00000514626.1:n.583+2017_583+2175del
ENST00000699826.1:c.*388-1_*543+2del
ENST00000699827.1:c.821-1_976+2del
ENST00000699828.1:c.*79-1_*234+2del
ENST00000699829.1:c.*490-1_*645+2del
ENST00000699830.1:c.*388-1_*543+2del
ENST00000699833.1:n.2761-1_2916+2del
ENST00000699837.1:c.584-1_739+2del
ENST00000699838.1:c.*889-1_*1044+2del
ENST00000699839.1:c.1175-1_1330+2del
ENST00000699840.1:c.986-1_1141+2del
ENST00000699916.1:c.*246-1_*401+2del
ENST00000699917.1:c.*438-1_*593+2del
ENST00000699918.1:c.*490-1_*645+2del
ENST00000699919.1:c.*576-1_*731+2del
ENST00000699920.1:c.*625-1_*780+2del
ENST00000699928.1:c.988+2017_988+2175del	ENSP00000514693.1:n.988+2017_988+2175del
ENST00000699929.1:c.*290-1_*445+2del
ENST00000699930.1:c.881-1_1036+2del
ENST00000699931.1:n.2417-1_2572+2del
ENST00000699932.1:c.*207-1_*362+2del
ENST00000699933.1:n.969-1_1126del
ENST00000699951.1:c.*85-1_*240+2del
ENST00000699952.1:c.803+7370_803+7528del	ENSP00000514707.1:n.803+7370_803+7528del
ENST00000699953.1:c.*96-1_*251+2del
ENST00000699954.1:c.*290-1_*445+2del
ENST00000265849.12:c.989-1_1144+2del
ENST00000642292.1:c.584-1_739+2del
ENST00000642456.1:c.584-1_739+2del
ENST00000643595.1:c.*388-1_*543+2del
ENST00000644110.1:c.671-1_826+2del
ENST00000265849.11:c.989-1_1144+2del
ENST00000382321.5:c.804-6965_804-6807del	ENSP00000371758.4:n.804-6965_804-6807del
ENST00000406569.7:n.989-1_1144+2del
ENST00000441476.6:c.671-1_826+2del
ENST00000469652.1:n.63-7051_63-6893del
NM_000535.5:c.989-1_1144+2del , LRG_161t1:c.989-1_1144+2del
NR_003085.2:n.1071-1_1226+2del
XM_006715742.2:c.983-1_1138+2del
XM_006715744.2:c.56-1_211+2del
XM_011515427.1:c.1034-1_1189+2del
XM_011515428.1:c.1033+2017_1033+2175del	XP_011513730.1:n.1033+2017_1033+2175del
XM_011515429.1:c.671-1_826+2del
XM_011515430.1:c.671-1_826+2del
NM_000535.6:c.989-1_1144+2del
NM_001322003.1:c.584-1_739+2del
NM_001322004.1:c.584-1_739+2del
NM_001322005.1:c.584-1_739+2del
NM_001322006.1:c.988+2017_988+2175del	NP_001308935.1:n.988+2017_988+2175del
NM_001322007.1:c.671-1_826+2del
NM_001322008.1:c.671-1_826+2del
NM_001322009.1:c.584-1_739+2del
NM_001322010.1:c.583+2017_583+2175del	NP_001308939.1:n.583+2017_583+2175del
NM_001322011.1:c.56-1_211+2del
NM_001322012.1:c.56-1_211+2del
NM_001322013.1:c.416-1_571+2del
NM_001322014.1:c.989-1_1144+2del
NM_001322015.1:c.680-1_835+2del
NR_136154.1:n.1076-1_1231+2del
XM_006715744.4:c.56-1_211+2del
XM_017012342.2:c.56-1_211+2del
XM_024446800.1:c.583+2017_583+2175del	XP_024302568.1:n.583+2017_583+2175del
NM_000535.7:c.989-1_1144+2del
NM_001322003.2:c.584-1_739+2del
NM_001322004.2:c.584-1_739+2del
NM_001322005.2:c.584-1_739+2del
NM_001322006.2:c.988+2017_988+2175del	NP_001308935.1:n.988+2017_988+2175del
NM_001322008.2:c.671-1_826+2del
NM_001322009.2:c.584-1_739+2del
NM_001322010.2:c.583+2017_583+2175del	NP_001308939.1:n.583+2017_583+2175del
NM_001322011.2:c.56-1_211+2del
NM_001322012.2:c.56-1_211+2del
NM_001322013.2:c.416-1_571+2del
NM_001322014.2:c.989-1_1144+2del
NM_001322015.2:c.680-1_835+2del
NM_001322007.2:c.671-1_826+2del