Canonical Allele Identifier: CA453644037
Gene: PMS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5989802_5989957del , CM000669.2:g.5989802_5989957del GRCh38
NC_000007.13:g.6029433_6029588del , CM000669.1:g.6029433_6029588del GRCh37
NC_000007.12:g.5995959_5996114del NCBI36
NG_008466.1:g.24152_24307del , LRG_161:g.24152_24307del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*385_*540del
ENST00000699840.2:c.986_1141del
ENST00000699930.2:c.881_1036del
ENST00000406569.8:c.989_1144del
ENST00000644110.2:c.*583_*738del
ENST00000699752.1:c.988+2018_988+2173del ENSP00000514561.1:n.988+2018_988+2173del
ENST00000699753.1:c.*410_*565del
ENST00000699754.1:c.791_946del
ENST00000699755.1:c.*388_*543del
ENST00000699756.1:c.*576_*731del
ENST00000699757.1:c.*246_*401del
ENST00000699758.1:c.*246_*401del
ENST00000699759.1:n.1843_1998del
ENST00000699760.1:c.671_826del
ENST00000699761.1:c.584_739del
ENST00000699762.1:c.416_571del
ENST00000699763.1:c.*79_*234del
ENST00000699764.1:c.989_1144del
ENST00000699765.1:c.*85_*240del
ENST00000699766.1:c.989_1144del
ENST00000699767.1:c.989_1144del
ENST00000699768.1:c.989_1144del
ENST00000699811.1:c.584_739del
ENST00000699813.1:n.1102_1257del
ENST00000699814.1:c.612_767del
ENST00000699815.1:c.*481_*636del
ENST00000699816.1:c.584_739del
ENST00000699817.1:c.*583_*738del
ENST00000699818.1:c.584_739del
ENST00000699819.1:c.*146_*301del
ENST00000699820.1:c.989_1144del
ENST00000699821.1:c.584_739del
ENST00000699822.1:c.*441_*596del
ENST00000699823.1:c.584_739del
ENST00000699824.1:c.*492_*647del
ENST00000699825.1:c.583+2018_583+2173del ENSP00000514626.1:n.583+2018_583+2173del
ENST00000699826.1:c.*388_*543del
ENST00000699827.1:c.821_976del
ENST00000699828.1:c.*79_*234del
ENST00000699829.1:c.*490_*645del
ENST00000699830.1:c.*388_*543del
ENST00000699833.1:n.2761_2916del
ENST00000699837.1:c.584_739del
ENST00000699838.1:c.*889_*1044del
ENST00000699839.1:c.1175_1330del
ENST00000699840.1:c.986_1141del
ENST00000699916.1:c.*246_*401del
ENST00000699917.1:c.*438_*593del
ENST00000699918.1:c.*490_*645del
ENST00000699919.1:c.*576_*731del
ENST00000699920.1:c.*625_*780del
ENST00000699928.1:c.988+2018_988+2173del ENSP00000514693.1:n.988+2018_988+2173del
ENST00000699929.1:c.*290_*445del
ENST00000699930.1:c.881_1036del
ENST00000699931.1:n.2417_2572del
ENST00000699932.1:c.*207_*362del
ENST00000699933.1:n.969_1124del
ENST00000699951.1:c.*85_*240del
ENST00000699952.1:c.803+7371_803+7526del ENSP00000514707.1:n.803+7371_803+7526del
ENST00000699953.1:c.*96_*251del
ENST00000699954.1:c.*290_*445del
ENST00000265849.12:c.989_1144del
ENST00000642292.1:c.584_739del
ENST00000642456.1:c.584_739del
ENST00000643595.1:c.*388_*543del
ENST00000644110.1:c.671_826del
ENST00000265849.11:c.989_1144del
ENST00000382321.5:c.804-6964_804-6809del ENSP00000371758.4:n.804-6964_804-6809del
ENST00000406569.7:n.989_1144del
ENST00000441476.6:c.671_826del
ENST00000469652.1:n.63-7050_63-6895del
NM_000535.5:c.989_1144del , LRG_161t1:c.989_1144del
NR_003085.2:n.1071_1226del
XM_006715742.2:c.983_1138del
XM_006715744.2:c.56_211del
XM_011515427.1:c.1034_1189del
XM_011515428.1:c.1033+2018_1033+2173del XP_011513730.1:n.1033+2018_1033+2173del
XM_011515429.1:c.671_826del
XM_011515430.1:c.671_826del
NM_000535.6:c.989_1144del
NM_001322003.1:c.584_739del
NM_001322004.1:c.584_739del
NM_001322005.1:c.584_739del
NM_001322006.1:c.988+2018_988+2173del NP_001308935.1:n.988+2018_988+2173del
NM_001322007.1:c.671_826del
NM_001322008.1:c.671_826del
NM_001322009.1:c.584_739del
NM_001322010.1:c.583+2018_583+2173del NP_001308939.1:n.583+2018_583+2173del
NM_001322011.1:c.56_211del
NM_001322012.1:c.56_211del
NM_001322013.1:c.416_571del
NM_001322014.1:c.989_1144del
NM_001322015.1:c.680_835del
NR_136154.1:n.1076_1231del
XM_006715744.4:c.56_211del
XM_017012342.2:c.56_211del
XM_024446800.1:c.583+2018_583+2173del XP_024302568.1:n.583+2018_583+2173del
NM_000535.7:c.989_1144del
NM_001322003.2:c.584_739del
NM_001322004.2:c.584_739del
NM_001322005.2:c.584_739del
NM_001322006.2:c.988+2018_988+2173del NP_001308935.1:n.988+2018_988+2173del
NM_001322008.2:c.671_826del
NM_001322009.2:c.584_739del
NM_001322010.2:c.583+2018_583+2173del NP_001308939.1:n.583+2018_583+2173del
NM_001322011.2:c.56_211del
NM_001322012.2:c.56_211del
NM_001322013.2:c.416_571del
NM_001322014.2:c.989_1144del
NM_001322015.2:c.680_835del
NM_001322007.2:c.671_826del