Canonical Allele Identifier: CA2499218952
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049610
ClinVar RCV Id: RCV001355946
dbSNP Id: rs2128719778

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986757_5987621del , CM000669.2:g.5986757_5987621del GRCh38
NC_000007.13:g.6026388_6027252del , CM000669.1:g.6026388_6027252del GRCh37
NC_000007.12:g.5992914_5993778del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*541-1_*1402+2del
ENST00000699840.2:c.1142-1_2003+2del
ENST00000699930.2:c.1037-1_1898+2del
ENST00000406569.8:c.1145-1_1678+330del
ENST00000644110.2:c.*739-1_*1600+2del
ENST00000699752.1:c.989-1_1850+2del
ENST00000699753.1:c.*566-1_*1427+2del
ENST00000699754.1:c.947-1_1808+2del
ENST00000699755.1:c.*544-1_*1405+2del
ENST00000699756.1:c.*732-1_*1593+2del
ENST00000699757.1:c.*402-1_*1263+2del
ENST00000699758.1:c.*402-1_*1263+2del
ENST00000699759.1:n.1999-1_2860+2del
ENST00000699760.1:c.827-1_1688+2del
ENST00000699761.1:c.740-1_1601+2del
ENST00000699762.1:c.572-1_1433+2del
ENST00000699763.1:c.*235-1_*1096+2del
ENST00000699764.1:c.1145-1_*324+2del
ENST00000699765.1:c.*241-1_*1102+2del
ENST00000699766.1:c.1145-1_2006+2del
ENST00000699767.1:c.1145-1_2006+2del
ENST00000699768.1:c.1145-1_2006+2del
ENST00000699811.1:c.740-1_1601+2del
ENST00000699813.1:n.1258-1_2119+2del
ENST00000699814.1:c.768-1_1629+2del
ENST00000699815.1:c.*675_*1537+2del
ENST00000699816.1:c.*34_*896+2del
ENST00000699817.1:c.*739-1_*1600+2del
ENST00000699818.1:c.740-1_1601+2del
ENST00000699819.1:c.*302-1_*1163+2del
ENST00000699820.1:c.1144+2179_1144+3043del ENSP00000514621.1:n.1144+2179_1144+3043de...
ENST00000699821.1:c.740-1_1601+2del
ENST00000699822.1:c.*597-1_*1458+2del
ENST00000699823.1:c.740-1_1601+2del
ENST00000699824.1:c.*648-1_*1509+2del
ENST00000699825.1:c.584-1_1445+2del
ENST00000699826.1:c.*544-1_*1405+2del
ENST00000699827.1:c.977-1_1838+2del
ENST00000699828.1:c.*235-1_*1096+2del
ENST00000699833.1:n.2917-1_3778+2del
ENST00000699837.1:c.740-1_1601+2del
ENST00000699838.1:c.*1045-1_*1906+2del
ENST00000699839.1:c.1331-1_2192+2del
ENST00000699916.1:c.*402-1_*1263+2del
ENST00000699917.1:c.*594-1_*1455+2del
ENST00000699918.1:c.*646-1_*1507+2del
ENST00000699919.1:c.*732-1_*1593+2del
ENST00000699920.1:c.*781-1_*1642+2del
ENST00000699928.1:c.988+4352_989-3766del ENSP00000514693.1:n.988+4352_989-3766del
ENST00000699951.1:c.*241-1_*1102+2del
ENST00000699952.1:c.803+9705_803+10569del ENSP00000514707.1:n.803+9705_803+10569del...
ENST00000265849.12:c.1145-1_2006+2del
ENST00000642292.1:c.740-1_1601+2del
ENST00000642456.1:c.740-1_1601+2del
ENST00000643595.1:c.*544-1_*1405+2del
ENST00000644110.1:c.827-1_1688+2del
ENST00000265849.11:c.1145-1_2006+2del
ENST00000382321.5:c.804-4630_804-3766del ENSP00000371758.4:n.804-4630_804-3766del
ENST00000406569.7:n.1145-1_1678+330del
ENST00000441476.6:c.827-1_1688+2del
ENST00000469652.1:n.63-4716_63-3852del
XM_006715742.2:c.1139-1_2000+2del
XM_006715744.2:c.212-1_1073+2del
XM_011515427.1:c.1190-1_2051+2del
XM_011515428.1:c.1034-1_1895+2del
XM_011515429.1:c.827-1_1688+2del
XM_011515430.1:c.827-1_1688+2del
NM_000535.6:c.1145-1_2006+2del
NM_001322003.1:c.740-1_1601+2del
NM_001322004.1:c.740-1_1601+2del
NM_001322005.1:c.740-1_1601+2del
NM_001322006.1:c.989-1_1850+2del
NM_001322007.1:c.827-1_1688+2del
NM_001322008.1:c.827-1_1688+2del
NM_001322009.1:c.740-1_1601+2del
NM_001322010.1:c.584-1_1445+2del
NM_001322011.1:c.212-1_1073+2del
NM_001322012.1:c.212-1_1073+2del
NM_001322013.1:c.572-1_1433+2del
NM_001322014.1:c.1145-1_2006+2del
NM_001322015.1:c.836-1_1697+2del
NR_136154.1:n.1232-1_2093+2del
XM_006715744.4:c.212-1_1073+2del
XM_017012342.2:c.212-1_1073+2del
XM_024446800.1:c.584-1_1445+2del
NM_000535.7:c.1145-1_2006+2del
NM_001322003.2:c.740-1_1601+2del
NM_001322004.2:c.740-1_1601+2del
NM_001322005.2:c.740-1_1601+2del
NM_001322006.2:c.989-1_1850+2del
NM_001322008.2:c.827-1_1688+2del
NM_001322009.2:c.740-1_1601+2del
NM_001322010.2:c.584-1_1445+2del
NM_001322011.2:c.212-1_1073+2del
NM_001322012.2:c.212-1_1073+2del
NM_001322013.2:c.572-1_1433+2del
NM_001322014.2:c.1145-1_2006+2del
NM_001322015.2:c.836-1_1697+2del
NM_001322007.2:c.827-1_1688+2del