Canonical Allele Identifier: CA331753
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91335

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5976004_5977882del , CM000669.2:g.5976004_5977882del GRCh38
NC_000007.13:g.6015635_6017513del , CM000669.1:g.6015635_6017513del GRCh37
NC_000007.12:g.5982161_5984039del NCBI36
NG_008466.1:g.36237_38115del , LRG_161:g.36237_38115del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1672-113_*1841+1596del
ENST00000699840.2:c.2273-113_2442+1596del
ENST00000699930.2:c.2168-113_2337+1596del
ENST00000406569.8:c.1679-156_1805+1596del
ENST00000644110.2:c.*1870-113_*2039+1596del
ENST00000699752.1:c.2120-113_2289+1596del
ENST00000699753.1:c.*1697-113_*1866+1596del
ENST00000699754.1:c.2078-113_2247+1596del
ENST00000699755.1:c.*1675-113_*1844+1596del
ENST00000699756.1:c.*1863-113_*2032+1596del
ENST00000699757.1:c.*1533-113_*1702+1596del
ENST00000699758.1:c.*1533-113_*1702+1596del
ENST00000699759.1:n.3130-113_3299+1596del
ENST00000699760.1:c.1958-113_2127+1596del
ENST00000699761.1:c.1871-113_2040+1596del
ENST00000699762.1:c.1703-113_1872+1596del
ENST00000699763.1:c.*1366-113_*1535+1596del
ENST00000699764.1:c.*594-113_*763+1596del
ENST00000699765.1:c.*1271-113_*1440+1596del
ENST00000699766.1:c.2276-80_2478+1596del
ENST00000699767.1:c.2276-156_*86+1596del
ENST00000699768.1:c.2175-156_2301+1596del
ENST00000699811.1:c.1871-113_2040+1596del
ENST00000699813.1:n.2389-113_2558+1596del
ENST00000699814.1:c.1899-113_2068+1596del
ENST00000699815.1:c.*1807-113_*1976+1596del
ENST00000699816.1:c.*1166-113_*1335+1596del
ENST00000699817.1:c.*1870-113_*2039+1596del
ENST00000699818.1:c.1871-113_2040+1596del
ENST00000699819.1:c.*1433-113_*1602+1596del
ENST00000699820.1:c.*214-113_*383+1596del
ENST00000699821.1:c.1871-80_2073+1596del
ENST00000699822.1:c.*1728-113_*1897+1596del
ENST00000699823.1:c.1871-113_2040+1596del
ENST00000699824.1:c.*1779-113_*1948+1596del
ENST00000699825.1:c.1715-113_1884+1596del
ENST00000699826.1:c.*1675-113_*1844+1596del
ENST00000699827.1:c.2108-113_2277+1596del
ENST00000699828.1:c.*1366-113_*1535+1596del
ENST00000699833.1:n.4048-113_4217+1596del
ENST00000699837.1:c.1871-113_2040+1596del
ENST00000699838.1:c.*2176-113_*2345+1596del
ENST00000699839.1:c.2462-113_2631+1596del
ENST00000699916.1:c.*1533-113_*1702+1596del
ENST00000699917.1:c.*1725-113_*1894+1596del
ENST00000699918.1:c.*1777-113_*1946+1596del
ENST00000699919.1:c.*1863-113_*2032+1596del
ENST00000699920.1:c.*1912-113_*2081+1596del
ENST00000699928.1:c.*214-113_*383+1596del
ENST00000699951.1:c.*1372-156_*1498+1596del
ENST00000699952.1:c.804-4328_804-2450del ENSP00000514707.1:n.804-4328_804-2450del
ENST00000265849.12:c.2276-113_2445+1596del
ENST00000642292.1:c.1871-113_2040+1596del
ENST00000642456.1:c.1871-113_2040+1596del
ENST00000643595.1:c.*1675-113_*1844+1596del
ENST00000644110.1:c.1958-113_2127+1596del
ENST00000265849.11:c.2276-113_2445+1596del
ENST00000382321.5:c.1073-113_1242+1596del
ENST00000441476.6:c.1958-113_2127+1596del
NM_000535.5:c.2276-113_2445+1596del , LRG_161t1:c.2276-113_2445+1596del
NR_003085.2:n.2358-113_2527+1596del
XM_006715742.2:c.2270-113_2439+1596del
XM_006715744.2:c.1343-113_1512+1596del
XM_011515427.1:c.2321-113_2490+1596del
XM_011515428.1:c.2165-113_2334+1596del
XM_011515429.1:c.1958-113_2127+1596del
XM_011515430.1:c.1958-113_2127+1596del
NM_000535.6:c.2276-113_2445+1596del
NM_001322003.1:c.1871-113_2040+1596del
NM_001322004.1:c.1871-113_2040+1596del
NM_001322005.1:c.1871-113_2040+1596del
NM_001322006.1:c.2120-113_2289+1596del
NM_001322007.1:c.1958-113_2127+1596del
NM_001322008.1:c.1958-113_2127+1596del
NM_001322009.1:c.1871-80_2073+1596del
NM_001322010.1:c.1715-113_1884+1596del
NM_001322011.1:c.1343-113_1512+1596del
NM_001322012.1:c.1343-113_1512+1596del
NM_001322013.1:c.1703-113_1872+1596del
NM_001322014.1:c.2276-80_2478+1596del
NM_001322015.1:c.1967-113_2136+1596del
NR_136154.1:n.2363-156_2489+1596del
XM_006715744.4:c.1343-113_1512+1596del
XM_017012342.2:c.1343-113_1512+1596del
XM_024446800.1:c.1715-113_1884+1596del
NM_000535.7:c.2276-113_2445+1596del
NM_001322003.2:c.1871-113_2040+1596del
NM_001322004.2:c.1871-113_2040+1596del
NM_001322005.2:c.1871-113_2040+1596del
NM_001322006.2:c.2120-113_2289+1596del
NM_001322008.2:c.1958-113_2127+1596del
NM_001322009.2:c.1871-80_2073+1596del
NM_001322010.2:c.1715-113_1884+1596del
NM_001322011.2:c.1343-113_1512+1596del
NM_001322012.2:c.1343-113_1512+1596del
NM_001322013.2:c.1703-113_1872+1596del
NM_001322014.2:c.2276-80_2478+1596del
NM_001322015.2:c.1967-113_2136+1596del
NM_001322007.2:c.1958-113_2127+1596del