Canonical Allele Identifier: CA331754
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91336
ClinVar RCV Id: RCV000076851

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5976806_5977856del , CM000669.2:g.5976806_5977856del GRCh38
NC_000007.13:g.6016437_6017487del , CM000669.1:g.6016437_6017487del GRCh37
NC_000007.12:g.5982963_5984013del NCBI36
NG_008466.1:g.36259_37309del , LRG_161:g.36259_37309del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1672-91_*1841+790del
ENST00000699840.2:c.2273-91_2442+790del
ENST00000699930.2:c.2168-91_2337+790del
ENST00000406569.8:c.1679-134_1805+790del
ENST00000644110.2:c.*1870-91_*2039+790del
ENST00000699752.1:c.2120-91_2289+790del
ENST00000699753.1:c.*1697-91_*1866+790del
ENST00000699754.1:c.2078-91_2247+790del
ENST00000699755.1:c.*1675-91_*1844+790del
ENST00000699756.1:c.*1863-91_*2032+790del
ENST00000699757.1:c.*1533-91_*1702+790del
ENST00000699758.1:c.*1533-91_*1702+790del
ENST00000699759.1:n.3130-91_3299+790del
ENST00000699760.1:c.1958-91_2127+790del
ENST00000699761.1:c.1871-91_2040+790del
ENST00000699762.1:c.1703-91_1872+790del
ENST00000699763.1:c.*1366-91_*1535+790del
ENST00000699764.1:c.*594-91_*763+790del
ENST00000699765.1:c.*1271-91_*1440+790del
ENST00000699766.1:c.2276-58_2478+790del
ENST00000699767.1:c.2276-134_*86+790del
ENST00000699768.1:c.2175-134_2301+790del
ENST00000699811.1:c.1871-91_2040+790del
ENST00000699813.1:n.2389-91_2558+790del
ENST00000699814.1:c.1899-91_2068+790del
ENST00000699815.1:c.*1807-91_*1976+790del
ENST00000699816.1:c.*1166-91_*1335+790del
ENST00000699817.1:c.*1870-91_*2039+790del
ENST00000699818.1:c.1871-91_2040+790del
ENST00000699819.1:c.*1433-91_*1602+790del
ENST00000699820.1:c.*214-91_*383+790del
ENST00000699821.1:c.1871-58_2073+790del
ENST00000699822.1:c.*1728-91_*1897+790del
ENST00000699823.1:c.1871-91_2040+790del
ENST00000699824.1:c.*1779-91_*1948+790del
ENST00000699825.1:c.1715-91_1884+790del
ENST00000699826.1:c.*1675-91_*1844+790del
ENST00000699827.1:c.2108-91_2277+790del
ENST00000699828.1:c.*1366-91_*1535+790del
ENST00000699833.1:n.4048-91_4217+790del
ENST00000699837.1:c.1871-91_2040+790del
ENST00000699838.1:c.*2176-91_*2345+790del
ENST00000699839.1:c.2462-91_2631+790del
ENST00000699916.1:c.*1533-91_*1702+790del
ENST00000699917.1:c.*1725-91_*1894+790del
ENST00000699918.1:c.*1777-91_*1946+790del
ENST00000699919.1:c.*1863-91_*2032+790del
ENST00000699920.1:c.*1912-91_*2081+790del
ENST00000699928.1:c.*214-91_*383+790del
ENST00000699951.1:c.*1372-134_*1498+790del
ENST00000699952.1:c.804-4306_804-3256del ENSP00000514707.1:n.804-4306_804-3256del
ENST00000265849.12:c.2276-91_2445+790del
ENST00000642292.1:c.1871-91_2040+790del
ENST00000642456.1:c.1871-91_2040+790del
ENST00000643595.1:c.*1675-91_*1844+790del
ENST00000644110.1:c.1958-91_2127+790del
ENST00000265849.11:c.2276-91_2445+790del
ENST00000382321.5:c.1073-91_1242+790del
ENST00000441476.6:c.1958-91_2127+790del
NM_000535.5:c.2276-91_2445+790del , LRG_161t1:c.2276-91_2445+790del
NR_003085.2:n.2358-91_2527+790del
XM_006715742.2:c.2270-91_2439+790del
XM_006715744.2:c.1343-91_1512+790del
XM_011515427.1:c.2321-91_2490+790del
XM_011515428.1:c.2165-91_2334+790del
XM_011515429.1:c.1958-91_2127+790del
XM_011515430.1:c.1958-91_2127+790del
NM_000535.6:c.2276-91_2445+790del
NM_001322003.1:c.1871-91_2040+790del
NM_001322004.1:c.1871-91_2040+790del
NM_001322005.1:c.1871-91_2040+790del
NM_001322006.1:c.2120-91_2289+790del
NM_001322007.1:c.1958-91_2127+790del
NM_001322008.1:c.1958-91_2127+790del
NM_001322009.1:c.1871-58_2073+790del
NM_001322010.1:c.1715-91_1884+790del
NM_001322011.1:c.1343-91_1512+790del
NM_001322012.1:c.1343-91_1512+790del
NM_001322013.1:c.1703-91_1872+790del
NM_001322014.1:c.2276-58_2478+790del
NM_001322015.1:c.1967-91_2136+790del
NR_136154.1:n.2363-134_2489+790del
XM_006715744.4:c.1343-91_1512+790del
XM_017012342.2:c.1343-91_1512+790del
XM_024446800.1:c.1715-91_1884+790del
NM_000535.7:c.2276-91_2445+790del
NM_001322003.2:c.1871-91_2040+790del
NM_001322004.2:c.1871-91_2040+790del
NM_001322005.2:c.1871-91_2040+790del
NM_001322006.2:c.2120-91_2289+790del
NM_001322008.2:c.1958-91_2127+790del
NM_001322009.2:c.1871-58_2073+790del
NM_001322010.2:c.1715-91_1884+790del
NM_001322011.2:c.1343-91_1512+790del
NM_001322012.2:c.1343-91_1512+790del
NM_001322013.2:c.1703-91_1872+790del
NM_001322014.2:c.2276-58_2478+790del
NM_001322015.2:c.1967-91_2136+790del
NM_001322007.2:c.1958-91_2127+790del