Canonical Allele Identifier: CA2499218953
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1048958
ClinVar RCV Id: RCV001354413

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986759_5988604del , CM000669.2:g.5986759_5988604del GRCh38
NC_000007.13:g.6026390_6028235del , CM000669.1:g.6026390_6028235del GRCh37
NC_000007.12:g.5992916_5994761del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*541-982_*1402+2del
ENST00000699840.2:c.1142-982_2003+2del
ENST00000699930.2:c.1037-982_1898+2del
ENST00000406569.8:c.1145-982_1678+330del
ENST00000644110.2:c.*739-982_*1600+2del
ENST00000699752.1:c.989-982_1850+2del
ENST00000699753.1:c.*566-982_*1427+2del
ENST00000699754.1:c.947-982_1808+2del
ENST00000699755.1:c.*544-982_*1405+2del
ENST00000699756.1:c.*732-982_*1593+2del
ENST00000699757.1:c.*402-982_*1263+2del
ENST00000699758.1:c.*402-982_*1263+2del
ENST00000699759.1:n.1999-982_2860+2del
ENST00000699760.1:c.827-982_1688+2del
ENST00000699761.1:c.740-982_1601+2del
ENST00000699762.1:c.572-982_1433+2del
ENST00000699763.1:c.*235-982_*1096+2del
ENST00000699764.1:c.1145-982_*324+2del
ENST00000699765.1:c.*241-982_*1102+2del
ENST00000699766.1:c.1145-982_2006+2del
ENST00000699767.1:c.1145-982_2006+2del
ENST00000699768.1:c.1145-982_2006+2del
ENST00000699811.1:c.740-982_1601+2del
ENST00000699813.1:n.1258-982_2119+2del
ENST00000699814.1:c.768-982_1629+2del
ENST00000699815.1:c.*637-943_*1537+2del
ENST00000699816.1:c.740-943_*896+2del
ENST00000699817.1:c.*739-982_*1600+2del
ENST00000699818.1:c.740-982_1601+2del
ENST00000699819.1:c.*302-982_*1163+2del
ENST00000699820.1:c.1144+1198_1144+3043del ENSP00000514621.1:n.1144+1198_1144+3043de...
ENST00000699821.1:c.740-982_1601+2del
ENST00000699822.1:c.*597-982_*1458+2del
ENST00000699823.1:c.740-982_1601+2del
ENST00000699824.1:c.*648-982_*1509+2del
ENST00000699825.1:c.584-982_1445+2del
ENST00000699826.1:c.*544-982_*1405+2del
ENST00000699827.1:c.977-982_1838+2del
ENST00000699828.1:c.*235-982_*1096+2del
ENST00000699833.1:n.2917-982_3778+2del
ENST00000699837.1:c.740-982_1601+2del
ENST00000699838.1:c.*1045-982_*1906+2del
ENST00000699839.1:c.1331-982_2192+2del
ENST00000699916.1:c.*402-982_*1263+2del
ENST00000699917.1:c.*594-982_*1455+2del
ENST00000699918.1:c.*646-982_*1507+2del
ENST00000699919.1:c.*732-982_*1593+2del
ENST00000699920.1:c.*781-982_*1642+2del
ENST00000699928.1:c.988+3371_989-3766del ENSP00000514693.1:n.988+3371_989-3766del
ENST00000699951.1:c.*241-982_*1102+2del
ENST00000699952.1:c.803+8724_803+10569del ENSP00000514707.1:n.803+8724_803+10569del...
ENST00000265849.12:c.1145-982_2006+2del
ENST00000642292.1:c.740-982_1601+2del
ENST00000642456.1:c.740-982_1601+2del
ENST00000643595.1:c.*544-982_*1405+2del
ENST00000644110.1:c.827-982_1688+2del
ENST00000265849.11:c.1145-982_2006+2del
ENST00000382321.5:c.804-5611_804-3766del ENSP00000371758.4:n.804-5611_804-3766del
ENST00000406569.7:n.1145-982_1678+330del
ENST00000441476.6:c.827-982_1688+2del
ENST00000469652.1:n.63-5697_63-3852del
XM_006715742.2:c.1139-982_2000+2del
XM_006715744.2:c.212-982_1073+2del
XM_011515427.1:c.1190-982_2051+2del
XM_011515428.1:c.1034-982_1895+2del
XM_011515429.1:c.827-982_1688+2del
XM_011515430.1:c.827-982_1688+2del
NM_000535.6:c.1145-982_2006+2del
NM_001322003.1:c.740-982_1601+2del
NM_001322004.1:c.740-982_1601+2del
NM_001322005.1:c.740-982_1601+2del
NM_001322006.1:c.989-982_1850+2del
NM_001322007.1:c.827-982_1688+2del
NM_001322008.1:c.827-982_1688+2del
NM_001322009.1:c.740-982_1601+2del
NM_001322010.1:c.584-982_1445+2del
NM_001322011.1:c.212-982_1073+2del
NM_001322012.1:c.212-982_1073+2del
NM_001322013.1:c.572-982_1433+2del
NM_001322014.1:c.1145-982_2006+2del
NM_001322015.1:c.836-982_1697+2del
NR_136154.1:n.1232-982_2093+2del
XM_006715744.4:c.212-982_1073+2del
XM_017012342.2:c.212-982_1073+2del
XM_024446800.1:c.584-982_1445+2del
NM_000535.7:c.1145-982_2006+2del
NM_001322003.2:c.740-982_1601+2del
NM_001322004.2:c.740-982_1601+2del
NM_001322005.2:c.740-982_1601+2del
NM_001322006.2:c.989-982_1850+2del
NM_001322008.2:c.827-982_1688+2del
NM_001322009.2:c.740-982_1601+2del
NM_001322010.2:c.584-982_1445+2del
NM_001322011.2:c.212-982_1073+2del
NM_001322012.2:c.212-982_1073+2del
NM_001322013.2:c.572-982_1433+2del
NM_001322014.2:c.1145-982_2006+2del
NM_001322015.2:c.836-982_1697+2del
NM_001322007.2:c.827-982_1688+2del