Canonical Allele Identifier: CA2499218940
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050329
ClinVar RCV Id: RCV001357606

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5977586_5980033del , CM000669.2:g.5977586_5980033del GRCh38
NC_000007.13:g.6017217_6019664del , CM000669.1:g.6017217_6019664del GRCh37
NC_000007.12:g.5983743_5986190del NCBI36
NG_008466.1:g.34076_36523del , LRG_161:g.34076_36523del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1571-1335_*1841+4del
ENST00000699840.2:c.2172-1335_2442+4del
ENST00000699930.2:c.2067-1335_2337+4del
ENST00000406569.8:c.1679-2317_1805+4del
ENST00000644110.2:c.*1769-1335_*2039+4del
ENST00000699752.1:c.2019-1335_2289+4del
ENST00000699753.1:c.*1596-1335_*1866+4del
ENST00000699754.1:c.1977-1335_2247+4del
ENST00000699755.1:c.*1574-1335_*1844+4del
ENST00000699756.1:c.*1762-1335_*2032+4del
ENST00000699757.1:c.*1432-1335_*1702+4del
ENST00000699758.1:c.*1432-1335_*1702+4del
ENST00000699759.1:n.3029-1335_3299+4del
ENST00000699760.1:c.1857-1335_2127+4del
ENST00000699761.1:c.1770-1335_2040+4del
ENST00000699762.1:c.1602-1335_1872+4del
ENST00000699763.1:c.*1265-1335_*1535+4del
ENST00000699764.1:c.*493-1335_*763+4del
ENST00000699765.1:c.*1271-2274_*1440+4del
ENST00000699766.1:c.2175-1335_2478+4del
ENST00000699767.1:c.2175-1335_*86+4del
ENST00000699768.1:c.2175-2317_2301+4del
ENST00000699811.1:c.1770-1335_2040+4del
ENST00000699813.1:n.2288-1335_2558+4del
ENST00000699814.1:c.1798-1335_2068+4del
ENST00000699815.1:c.*1706-1335_*1976+4del
ENST00000699816.1:c.*1065-1335_*1335+4del
ENST00000699817.1:c.*1769-1335_*2039+4del
ENST00000699818.1:c.1770-1335_2040+4del
ENST00000699819.1:c.*1332-1335_*1602+4del
ENST00000699820.1:c.*113-1335_*383+4del
ENST00000699821.1:c.1770-1335_2073+4del
ENST00000699822.1:c.*1627-1335_*1897+4del
ENST00000699823.1:c.1770-1335_2040+4del
ENST00000699824.1:c.*1678-1335_*1948+4del
ENST00000699825.1:c.1614-1335_1884+4del
ENST00000699826.1:c.*1574-1335_*1844+4del
ENST00000699827.1:c.2007-1335_2277+4del
ENST00000699828.1:c.*1265-1335_*1535+4del
ENST00000699833.1:n.3947-1335_4217+4del
ENST00000699837.1:c.1770-1335_2040+4del
ENST00000699838.1:c.*2075-1335_*2345+4del
ENST00000699839.1:c.2361-1335_2631+4del
ENST00000699916.1:c.*1432-1335_*1702+4del
ENST00000699917.1:c.*1624-1335_*1894+4del
ENST00000699918.1:c.*1676-1335_*1946+4del
ENST00000699919.1:c.*1762-1335_*2032+4del
ENST00000699920.1:c.*1811-1335_*2081+4del
ENST00000699928.1:c.*113-1335_*383+4del
ENST00000699951.1:c.*1271-1335_*1498+4del
ENST00000699952.1:c.804-6489_804-4042del ENSP00000514707.1:n.804-6489_804-4042del
ENST00000265849.12:c.2175-1335_2445+4del
ENST00000642292.1:c.1770-1335_2040+4del
ENST00000642456.1:c.1770-1335_2040+4del
ENST00000643595.1:c.*1574-1335_*1844+4del
ENST00000644110.1:c.1857-1335_2127+4del
ENST00000265849.11:c.2175-1335_2445+4del
ENST00000382321.5:c.972-1335_1242+4del
ENST00000441476.6:c.1857-1335_2127+4del
NM_000535.5:c.2175-1335_2445+4del , LRG_161t1:c.2175-1335_2445+4del
NR_003085.2:n.2257-1335_2527+4del
XM_006715742.2:c.2169-1335_2439+4del
XM_006715744.2:c.1242-1335_1512+4del
XM_011515427.1:c.2220-1335_2490+4del
XM_011515428.1:c.2064-1335_2334+4del
XM_011515429.1:c.1857-1335_2127+4del
XM_011515430.1:c.1857-1335_2127+4del
NM_000535.6:c.2175-1335_2445+4del
NM_001322003.1:c.1770-1335_2040+4del
NM_001322004.1:c.1770-1335_2040+4del
NM_001322005.1:c.1770-1335_2040+4del
NM_001322006.1:c.2019-1335_2289+4del
NM_001322007.1:c.1857-1335_2127+4del
NM_001322008.1:c.1857-1335_2127+4del
NM_001322009.1:c.1770-1335_2073+4del
NM_001322010.1:c.1614-1335_1884+4del
NM_001322011.1:c.1242-1335_1512+4del
NM_001322012.1:c.1242-1335_1512+4del
NM_001322013.1:c.1602-1335_1872+4del
NM_001322014.1:c.2175-1335_2478+4del
NM_001322015.1:c.1866-1335_2136+4del
NR_136154.1:n.2262-1335_2489+4del
XM_006715744.4:c.1242-1335_1512+4del
XM_017012342.2:c.1242-1335_1512+4del
XM_024446800.1:c.1614-1335_1884+4del
NM_000535.7:c.2175-1335_2445+4del
NM_001322003.2:c.1770-1335_2040+4del
NM_001322004.2:c.1770-1335_2040+4del
NM_001322005.2:c.1770-1335_2040+4del
NM_001322006.2:c.2019-1335_2289+4del
NM_001322008.2:c.1857-1335_2127+4del
NM_001322009.2:c.1770-1335_2073+4del
NM_001322010.2:c.1614-1335_1884+4del
NM_001322011.2:c.1242-1335_1512+4del
NM_001322012.2:c.1242-1335_1512+4del
NM_001322013.2:c.1602-1335_1872+4del
NM_001322014.2:c.2175-1335_2478+4del
NM_001322015.2:c.1866-1335_2136+4del
NM_001322007.2:c.1857-1335_2127+4del