Canonical Allele Identifier: CA2580076855
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1783602
ClinVar RCV Id: RCV002423474

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986750_5986795dup , CM000669.2:g.5986750_5986795dup GRCh38
NC_000007.13:g.6026381_6026426dup , CM000669.1:g.6026381_6026426dup GRCh37
NC_000007.12:g.5992907_5992952dup NCBI36
NG_008466.1:g.27312_27357dup , LRG_161:g.27312_27357dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1366_*1402+9dup
ENST00000699840.2:c.1967_2003+9dup
ENST00000699930.2:c.1862_1898+9dup
ENST00000406569.8:c.1678+292_1678+337dup ENSP00000514464.1:n.1678+292_1678+337dup
ENST00000644110.2:c.*1564_*1600+9dup
ENST00000699752.1:c.1814_1850+9dup
ENST00000699753.1:c.*1391_*1427+9dup
ENST00000699754.1:c.1772_1808+9dup
ENST00000699755.1:c.*1369_*1405+9dup
ENST00000699756.1:c.*1557_*1593+9dup
ENST00000699757.1:c.*1227_*1263+9dup
ENST00000699758.1:c.*1227_*1263+9dup
ENST00000699759.1:n.2824_2860+9dup
ENST00000699760.1:c.1652_1688+9dup
ENST00000699761.1:c.1565_1601+9dup
ENST00000699762.1:c.1397_1433+9dup
ENST00000699763.1:c.*1060_*1096+9dup
ENST00000699764.1:c.*288_*324+9dup
ENST00000699765.1:c.*1066_*1102+9dup
ENST00000699766.1:c.1970_2006+9dup
ENST00000699767.1:c.1970_2006+9dup
ENST00000699768.1:c.1970_2006+9dup
ENST00000699811.1:c.1565_1601+9dup
ENST00000699813.1:n.2083_2119+9dup
ENST00000699814.1:c.1593_1629+9dup
ENST00000699815.1:c.*1501_*1537+9dup
ENST00000699816.1:c.*860_*896+9dup
ENST00000699817.1:c.*1564_*1600+9dup
ENST00000699818.1:c.1565_1601+9dup
ENST00000699819.1:c.*1127_*1163+9dup
ENST00000699820.1:c.1144+3005_1144+3050dup ENSP00000514621.1:n.1144+3005_1144+3050dup
ENST00000699821.1:c.1565_1601+9dup
ENST00000699822.1:c.*1422_*1458+9dup
ENST00000699823.1:c.1565_1601+9dup
ENST00000699824.1:c.*1473_*1509+9dup
ENST00000699825.1:c.1409_1445+9dup
ENST00000699826.1:c.*1369_*1405+9dup
ENST00000699827.1:c.1802_1838+9dup
ENST00000699828.1:c.*1060_*1096+9dup
ENST00000699833.1:n.3742_3778+9dup
ENST00000699837.1:c.1565_1601+9dup
ENST00000699838.1:c.*1870_*1906+9dup
ENST00000699839.1:c.2156_2192+9dup
ENST00000699916.1:c.*1227_*1263+9dup
ENST00000699917.1:c.*1419_*1455+9dup
ENST00000699918.1:c.*1471_*1507+9dup
ENST00000699919.1:c.*1557_*1593+9dup
ENST00000699920.1:c.*1606_*1642+9dup
ENST00000699928.1:c.989-3804_989-3759dup ENSP00000514693.1:n.989-3804_989-3759dup
ENST00000699951.1:c.*1066_*1102+9dup
ENST00000699952.1:c.803+10531_803+10576dup ENSP00000514707.1:n.803+10531_803+10576dup
ENST00000265849.12:c.1970_2006+9dup
ENST00000642292.1:c.1565_1601+9dup
ENST00000642456.1:c.1565_1601+9dup
ENST00000643595.1:c.*1369_*1405+9dup
ENST00000644110.1:c.1652_1688+9dup
ENST00000265849.11:c.1970_2006+9dup
ENST00000382321.5:c.804-3804_804-3759dup ENSP00000371758.4:n.804-3804_804-3759dup
ENST00000406569.7:n.1678+292_1678+337dup
ENST00000441476.6:c.1652_1688+9dup
ENST00000469652.1:n.63-3890_63-3845dup
NM_000535.5:c.1970_2006+9dup , LRG_161t1:c.1970_2006+9dup
NR_003085.2:n.2052_2088+9dup
XM_006715742.2:c.1964_2000+9dup
XM_006715744.2:c.1037_1073+9dup
XM_011515427.1:c.2015_2051+9dup
XM_011515428.1:c.1859_1895+9dup
XM_011515429.1:c.1652_1688+9dup
XM_011515430.1:c.1652_1688+9dup
NM_000535.6:c.1970_2006+9dup
NM_001322003.1:c.1565_1601+9dup
NM_001322004.1:c.1565_1601+9dup
NM_001322005.1:c.1565_1601+9dup
NM_001322006.1:c.1814_1850+9dup
NM_001322007.1:c.1652_1688+9dup
NM_001322008.1:c.1652_1688+9dup
NM_001322009.1:c.1565_1601+9dup
NM_001322010.1:c.1409_1445+9dup
NM_001322011.1:c.1037_1073+9dup
NM_001322012.1:c.1037_1073+9dup
NM_001322013.1:c.1397_1433+9dup
NM_001322014.1:c.1970_2006+9dup
NM_001322015.1:c.1661_1697+9dup
NR_136154.1:n.2057_2093+9dup
XM_006715744.4:c.1037_1073+9dup
XM_017012342.2:c.1037_1073+9dup
XM_024446800.1:c.1409_1445+9dup
NM_000535.7:c.1970_2006+9dup
NM_001322003.2:c.1565_1601+9dup
NM_001322004.2:c.1565_1601+9dup
NM_001322005.2:c.1565_1601+9dup
NM_001322006.2:c.1814_1850+9dup
NM_001322008.2:c.1652_1688+9dup
NM_001322009.2:c.1565_1601+9dup
NM_001322010.2:c.1409_1445+9dup
NM_001322011.2:c.1037_1073+9dup
NM_001322012.2:c.1037_1073+9dup
NM_001322013.2:c.1397_1433+9dup
NM_001322014.2:c.1970_2006+9dup
NM_001322015.2:c.1661_1697+9dup
NM_001322007.2:c.1652_1688+9dup