Canonical Allele Identifier: CA645563162

Gene: PMS2

Linked Data

• COSMIC: COSM290901

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977587_5977588delinsTG , CM000669.2:g.5977587_5977588delinsTG	GRCh38
NC_000007.13:g.6017218_6017219delinsTG , CM000669.1:g.6017218_6017219delinsTG	GRCh37
NC_000007.12:g.5983744_5983745delinsTG	NCBI36
NG_008466.1:g.36519_36520delinsCA , LRG_161:g.36519_36520delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1841_*1841+1delinsCA
ENST00000699840.2:c.2442_2442+1delinsCA
ENST00000699930.2:c.2337_2337+1delinsCA
ENST00000406569.8:c.1805_1805+1delinsCA
ENST00000644110.2:c.*2039_*2039+1delinsCA
ENST00000699752.1:c.2289_2289+1delinsCA
ENST00000699753.1:c.*1866_*1866+1delinsCA
ENST00000699754.1:c.2247_2247+1delinsCA
ENST00000699755.1:c.*1844_*1844+1delinsCA
ENST00000699756.1:c.*2032_*2032+1delinsCA
ENST00000699757.1:c.*1702_*1702+1delinsCA
ENST00000699758.1:c.*1702_*1702+1delinsCA
ENST00000699759.1:n.3299_3299+1delinsCA
ENST00000699760.1:c.2127_2127+1delinsCA
ENST00000699761.1:c.2040_2040+1delinsCA
ENST00000699762.1:c.1872_1872+1delinsCA
ENST00000699763.1:c.*1535_*1535+1delinsCA
ENST00000699764.1:c.*763_*763+1delinsCA
ENST00000699765.1:c.*1440_*1440+1delinsCA
ENST00000699766.1:c.2478_2478+1delinsCA
ENST00000699767.1:c.*86_*86+1delinsCA
ENST00000699768.1:c.2301_2301+1delinsCA
ENST00000699811.1:c.2040_2040+1delinsCA
ENST00000699813.1:n.2558_2558+1delinsCA
ENST00000699814.1:c.2068_2068+1delinsCA
ENST00000699815.1:c.*1976_*1976+1delinsCA
ENST00000699816.1:c.*1335_*1335+1delinsCA
ENST00000699817.1:c.*2039_*2039+1delinsCA
ENST00000699818.1:c.2040_2040+1delinsCA
ENST00000699819.1:c.*1602_*1602+1delinsCA
ENST00000699820.1:c.*383_*383+1delinsCA
ENST00000699821.1:c.2073_2073+1delinsCA
ENST00000699822.1:c.*1897_*1897+1delinsCA
ENST00000699823.1:c.2040_2040+1delinsCA
ENST00000699824.1:c.*1948_*1948+1delinsCA
ENST00000699825.1:c.1884_1884+1delinsCA
ENST00000699826.1:c.*1844_*1844+1delinsCA
ENST00000699827.1:c.2277_2277+1delinsCA
ENST00000699828.1:c.*1535_*1535+1delinsCA
ENST00000699833.1:n.4217_4217+1delinsCA
ENST00000699837.1:c.2040_2040+1delinsCA
ENST00000699838.1:c.*2345_*2345+1delinsCA
ENST00000699839.1:c.2631_2631+1delinsCA
ENST00000699916.1:c.*1702_*1702+1delinsCA
ENST00000699917.1:c.*1894_*1894+1delinsCA
ENST00000699918.1:c.*1946_*1946+1delinsCA
ENST00000699919.1:c.*2032_*2032+1delinsCA
ENST00000699920.1:c.*2081_*2081+1delinsCA
ENST00000699928.1:c.*383_*383+1delinsCA
ENST00000699951.1:c.*1498_*1498+1delinsCA
ENST00000699952.1:c.804-4046_804-4045delinsCA	ENSP00000514707.1:n.804-4046_804-4045delinsCA
ENST00000265849.12:c.2445_2445+1delinsCA
ENST00000642292.1:c.2040_2040+1delinsCA
ENST00000642456.1:c.2040_2040+1delinsCA
ENST00000643595.1:c.*1844_*1844+1delinsCA
ENST00000644110.1:c.2127_2127+1delinsCA
ENST00000265849.11:c.2445_2445+1delinsCA
ENST00000382321.5:c.1242_1242+1delinsCA
ENST00000441476.6:c.2127_2127+1delinsCA
NM_000535.5:c.2445_2445+1delinsCA , LRG_161t1:c.2445_2445+1delinsCA
NR_003085.2:n.2527_2527+1delinsCA
XM_006715742.2:c.2439_2439+1delinsCA
XM_006715744.2:c.1512_1512+1delinsCA
XM_011515427.1:c.2490_2490+1delinsCA
XM_011515428.1:c.2334_2334+1delinsCA
XM_011515429.1:c.2127_2127+1delinsCA
XM_011515430.1:c.2127_2127+1delinsCA
NM_000535.6:c.2445_2445+1delinsCA
NM_001322003.1:c.2040_2040+1delinsCA
NM_001322004.1:c.2040_2040+1delinsCA
NM_001322005.1:c.2040_2040+1delinsCA
NM_001322006.1:c.2289_2289+1delinsCA
NM_001322007.1:c.2127_2127+1delinsCA
NM_001322008.1:c.2127_2127+1delinsCA
NM_001322009.1:c.2073_2073+1delinsCA
NM_001322010.1:c.1884_1884+1delinsCA
NM_001322011.1:c.1512_1512+1delinsCA
NM_001322012.1:c.1512_1512+1delinsCA
NM_001322013.1:c.1872_1872+1delinsCA
NM_001322014.1:c.2478_2478+1delinsCA
NM_001322015.1:c.2136_2136+1delinsCA
NR_136154.1:n.2489_2489+1delinsCA
XM_006715744.4:c.1512_1512+1delinsCA
XM_017012342.2:c.1512_1512+1delinsCA
XM_024446800.1:c.1884_1884+1delinsCA
NM_000535.7:c.2445_2445+1delinsCA
NM_001322003.2:c.2040_2040+1delinsCA
NM_001322004.2:c.2040_2040+1delinsCA
NM_001322005.2:c.2040_2040+1delinsCA
NM_001322006.2:c.2289_2289+1delinsCA
NM_001322008.2:c.2127_2127+1delinsCA
NM_001322009.2:c.2073_2073+1delinsCA
NM_001322010.2:c.1884_1884+1delinsCA
NM_001322011.2:c.1512_1512+1delinsCA
NM_001322012.2:c.1512_1512+1delinsCA
NM_001322013.2:c.1872_1872+1delinsCA
NM_001322014.2:c.2478_2478+1delinsCA
NM_001322015.2:c.2136_2136+1delinsCA
NM_001322007.2:c.2127_2127+1delinsCA