Canonical Allele Identifier: CA2499218941
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049246
ClinVar RCV Id: RCV001355118
dbSNP Id: rs2128671526

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5977586_5977758del , CM000669.2:g.5977586_5977758del GRCh38
NC_000007.13:g.6017217_6017389del , CM000669.1:g.6017217_6017389del GRCh37
NC_000007.12:g.5983743_5983915del NCBI36
NG_008466.1:g.36349_36521del , LRG_161:g.36349_36521del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1672-1_*1841+2del
ENST00000699840.2:c.2273-1_2442+2del
ENST00000699930.2:c.2168-1_2337+2del
ENST00000406569.8:c.1679-44_1805+2del
ENST00000644110.2:c.*1870-1_*2039+2del
ENST00000699752.1:c.2120-1_2289+2del
ENST00000699753.1:c.*1697-1_*1866+2del
ENST00000699754.1:c.2078-1_2247+2del
ENST00000699755.1:c.*1675-1_*1844+2del
ENST00000699756.1:c.*1863-1_*2032+2del
ENST00000699757.1:c.*1533-1_*1702+2del
ENST00000699758.1:c.*1533-1_*1702+2del
ENST00000699759.1:n.3130-1_3299+2del
ENST00000699760.1:c.1958-1_2127+2del
ENST00000699761.1:c.1871-1_2040+2del
ENST00000699762.1:c.1703-1_1872+2del
ENST00000699763.1:c.*1366-1_*1535+2del
ENST00000699764.1:c.*594-1_*763+2del
ENST00000699765.1:c.*1271-1_*1440+2del
ENST00000699766.1:c.2308_2478+2del
ENST00000699767.1:c.2276-44_*86+2del
ENST00000699768.1:c.2175-44_2301+2del
ENST00000699811.1:c.1871-1_2040+2del
ENST00000699813.1:n.2389-1_2558+2del
ENST00000699814.1:c.1899-1_2068+2del
ENST00000699815.1:c.*1807-1_*1976+2del
ENST00000699816.1:c.*1166-1_*1335+2del
ENST00000699817.1:c.*1870-1_*2039+2del
ENST00000699818.1:c.1871-1_2040+2del
ENST00000699819.1:c.*1433-1_*1602+2del
ENST00000699820.1:c.*214-1_*383+2del
ENST00000699821.1:c.1903_2073+2del
ENST00000699822.1:c.*1728-1_*1897+2del
ENST00000699823.1:c.1871-1_2040+2del
ENST00000699824.1:c.*1779-1_*1948+2del
ENST00000699825.1:c.1715-1_1884+2del
ENST00000699826.1:c.*1675-1_*1844+2del
ENST00000699827.1:c.2108-1_2277+2del
ENST00000699828.1:c.*1366-1_*1535+2del
ENST00000699833.1:n.4048-1_4217+2del
ENST00000699837.1:c.1871-1_2040+2del
ENST00000699838.1:c.*2176-1_*2345+2del
ENST00000699839.1:c.2462-1_2631+2del
ENST00000699916.1:c.*1533-1_*1702+2del
ENST00000699917.1:c.*1725-1_*1894+2del
ENST00000699918.1:c.*1777-1_*1946+2del
ENST00000699919.1:c.*1863-1_*2032+2del
ENST00000699920.1:c.*1912-1_*2081+2del
ENST00000699928.1:c.*214-1_*383+2del
ENST00000699951.1:c.*1372-44_*1498+2del
ENST00000699952.1:c.804-4216_804-4044del ENSP00000514707.1:n.804-4216_804-4044del
ENST00000265849.12:c.2276-1_2445+2del
ENST00000642292.1:c.1871-1_2040+2del
ENST00000642456.1:c.1871-1_2040+2del
ENST00000643595.1:c.*1675-1_*1844+2del
ENST00000644110.1:c.1958-1_2127+2del
ENST00000265849.11:c.2276-1_2445+2del
ENST00000382321.5:c.1073-1_1242+2del
ENST00000441476.6:c.1958-1_2127+2del
NM_000535.5:c.2276-1_2445+2del , LRG_161t1:c.2276-1_2445+2del
NR_003085.2:n.2358-1_2527+2del
XM_006715742.2:c.2270-1_2439+2del
XM_006715744.2:c.1343-1_1512+2del
XM_011515427.1:c.2321-1_2490+2del
XM_011515428.1:c.2165-1_2334+2del
XM_011515429.1:c.1958-1_2127+2del
XM_011515430.1:c.1958-1_2127+2del
NM_000535.6:c.2276-1_2445+2del
NM_001322003.1:c.1871-1_2040+2del
NM_001322004.1:c.1871-1_2040+2del
NM_001322005.1:c.1871-1_2040+2del
NM_001322006.1:c.2120-1_2289+2del
NM_001322007.1:c.1958-1_2127+2del
NM_001322008.1:c.1958-1_2127+2del
NM_001322009.1:c.1903_2073+2del
NM_001322010.1:c.1715-1_1884+2del
NM_001322011.1:c.1343-1_1512+2del
NM_001322012.1:c.1343-1_1512+2del
NM_001322013.1:c.1703-1_1872+2del
NM_001322014.1:c.2308_2478+2del
NM_001322015.1:c.1967-1_2136+2del
NR_136154.1:n.2363-44_2489+2del
XM_006715744.4:c.1343-1_1512+2del
XM_017012342.2:c.1343-1_1512+2del
XM_024446800.1:c.1715-1_1884+2del
NM_000535.7:c.2276-1_2445+2del
NM_001322003.2:c.1871-1_2040+2del
NM_001322004.2:c.1871-1_2040+2del
NM_001322005.2:c.1871-1_2040+2del
NM_001322006.2:c.2120-1_2289+2del
NM_001322008.2:c.1958-1_2127+2del
NM_001322009.2:c.1903_2073+2del
NM_001322010.2:c.1715-1_1884+2del
NM_001322011.2:c.1343-1_1512+2del
NM_001322012.2:c.1343-1_1512+2del
NM_001322013.2:c.1703-1_1872+2del
NM_001322014.2:c.2308_2478+2del
NM_001322015.2:c.1967-1_2136+2del
NM_001322007.2:c.1958-1_2127+2del