Canonical Allele Identifier: CA891842805
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 579556
ClinVar RCV Id: RCV000702872
dbSNP Id: rs1562598658

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5977079_5977677del , CM000669.2:g.5977079_5977677del GRCh38
NC_000007.13:g.6016710_6017308del , CM000669.1:g.6016710_6017308del GRCh37
NC_000007.12:g.5983236_5983834del NCBI36
NG_008466.1:g.36431_37029del , LRG_161:g.36431_37029del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1753_*1841+510del
ENST00000699840.2:c.2354_2442+510del
ENST00000699930.2:c.2249_2337+510del
ENST00000406569.8:c.1717_1805+510del
ENST00000644110.2:c.*1951_*2039+510del
ENST00000699752.1:c.2201_2289+510del
ENST00000699753.1:c.*1778_*1866+510del
ENST00000699754.1:c.2159_2247+510del
ENST00000699755.1:c.*1756_*1844+510del
ENST00000699756.1:c.*1944_*2032+510del
ENST00000699757.1:c.*1614_*1702+510del
ENST00000699758.1:c.*1614_*1702+510del
ENST00000699759.1:n.3211_3299+510del
ENST00000699760.1:c.2039_2127+510del
ENST00000699761.1:c.1952_2040+510del
ENST00000699762.1:c.1784_1872+510del
ENST00000699763.1:c.*1447_*1535+510del
ENST00000699764.1:c.*675_*763+510del
ENST00000699765.1:c.*1352_*1440+510del
ENST00000699766.1:c.2390_2478+510del
ENST00000699767.1:c.2314_*86+510del
ENST00000699768.1:c.2213_2301+510del
ENST00000699811.1:c.1952_2040+510del
ENST00000699813.1:n.2470_2558+510del
ENST00000699814.1:c.1980_2068+510del
ENST00000699815.1:c.*1888_*1976+510del
ENST00000699816.1:c.*1247_*1335+510del
ENST00000699817.1:c.*1951_*2039+510del
ENST00000699818.1:c.1952_2040+510del
ENST00000699819.1:c.*1514_*1602+510del
ENST00000699820.1:c.*295_*383+510del
ENST00000699821.1:c.1985_2073+510del
ENST00000699822.1:c.*1809_*1897+510del
ENST00000699823.1:c.1952_2040+510del
ENST00000699824.1:c.*1860_*1948+510del
ENST00000699825.1:c.1796_1884+510del
ENST00000699826.1:c.*1756_*1844+510del
ENST00000699827.1:c.2189_2277+510del
ENST00000699828.1:c.*1447_*1535+510del
ENST00000699833.1:n.4129_4217+510del
ENST00000699837.1:c.1952_2040+510del
ENST00000699838.1:c.*2257_*2345+510del
ENST00000699839.1:c.2543_2631+510del
ENST00000699916.1:c.*1614_*1702+510del
ENST00000699917.1:c.*1806_*1894+510del
ENST00000699918.1:c.*1858_*1946+510del
ENST00000699919.1:c.*1944_*2032+510del
ENST00000699920.1:c.*1993_*2081+510del
ENST00000699928.1:c.*295_*383+510del
ENST00000699951.1:c.*1410_*1498+510del
ENST00000699952.1:c.804-4134_804-3536del ENSP00000514707.1:n.804-4134_804-3536del
ENST00000265849.12:c.2357_2445+510del
ENST00000642292.1:c.1952_2040+510del
ENST00000642456.1:c.1952_2040+510del
ENST00000643595.1:c.*1756_*1844+510del
ENST00000644110.1:c.2039_2127+510del
ENST00000265849.11:c.2357_2445+510del
ENST00000382321.5:c.1154_1242+510del
ENST00000441476.6:c.2039_2127+510del
NM_000535.5:c.2357_2445+510del , LRG_161t1:c.2357_2445+510del
NR_003085.2:n.2439_2527+510del
XM_006715742.2:c.2351_2439+510del
XM_006715744.2:c.1424_1512+510del
XM_011515427.1:c.2402_2490+510del
XM_011515428.1:c.2246_2334+510del
XM_011515429.1:c.2039_2127+510del
XM_011515430.1:c.2039_2127+510del
NM_000535.6:c.2357_2445+510del
NM_001322003.1:c.1952_2040+510del
NM_001322004.1:c.1952_2040+510del
NM_001322005.1:c.1952_2040+510del
NM_001322006.1:c.2201_2289+510del
NM_001322007.1:c.2039_2127+510del
NM_001322008.1:c.2039_2127+510del
NM_001322009.1:c.1985_2073+510del
NM_001322010.1:c.1796_1884+510del
NM_001322011.1:c.1424_1512+510del
NM_001322012.1:c.1424_1512+510del
NM_001322013.1:c.1784_1872+510del
NM_001322014.1:c.2390_2478+510del
NM_001322015.1:c.2048_2136+510del
NR_136154.1:n.2401_2489+510del
XM_006715744.4:c.1424_1512+510del
XM_017012342.2:c.1424_1512+510del
XM_024446800.1:c.1796_1884+510del
NM_000535.7:c.2357_2445+510del
NM_001322003.2:c.1952_2040+510del
NM_001322004.2:c.1952_2040+510del
NM_001322005.2:c.1952_2040+510del
NM_001322006.2:c.2201_2289+510del
NM_001322008.2:c.2039_2127+510del
NM_001322009.2:c.1985_2073+510del
NM_001322010.2:c.1796_1884+510del
NM_001322011.2:c.1424_1512+510del
NM_001322012.2:c.1424_1512+510del
NM_001322013.2:c.1784_1872+510del
NM_001322014.2:c.2390_2478+510del
NM_001322015.2:c.2048_2136+510del
NM_001322007.2:c.2039_2127+510del