Canonical Allele Identifier: CA2580076831
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1703765
ClinVar RCV Id: RCV002280925

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5980652_5989558del , CM000669.2:g.5980652_5989558del GRCh38
NC_000007.13:g.6020283_6029189del , CM000669.1:g.6020283_6029189del GRCh37
NC_000007.12:g.5986809_5995715del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*540+250_*1571-1948del
ENST00000699840.2:c.1141+250_2172-1948del
ENST00000699930.2:c.1036+250_2067-1948del
ENST00000406569.8:c.1144+250_1679-2930del
ENST00000644110.2:c.*738+250_*1769-1948del
ENST00000699752.1:c.989-1930_2019-1948del
ENST00000699753.1:c.*565+250_*1596-1948del
ENST00000699754.1:c.946+250_1977-1948del
ENST00000699755.1:c.*543+250_*1574-1948del
ENST00000699756.1:c.*731+250_*1762-1948del
ENST00000699757.1:c.*401+250_*1432-1948del
ENST00000699758.1:c.*401+250_*1432-1948del
ENST00000699759.1:n.1998+250_3029-1948del
ENST00000699760.1:c.826+250_1857-1948del
ENST00000699761.1:c.739+250_1770-1948del
ENST00000699762.1:c.571+250_1602-1948del
ENST00000699763.1:c.*234+250_*1265-1948del
ENST00000699764.1:c.1144+250_*493-1948del
ENST00000699765.1:c.*240+250_*1270+2180del
ENST00000699766.1:c.1144+250_2175-1948del
ENST00000699767.1:c.1144+250_2175-1948del
ENST00000699768.1:c.1144+250_2174+2180del
ENST00000699811.1:c.739+250_1770-1948del
ENST00000699813.1:n.1257+250_2288-1948del
ENST00000699814.1:c.767+250_1798-1948del
ENST00000699815.1:c.*636+250_*1706-1948del
ENST00000699816.1:c.739+250_*1065-1948del
ENST00000699817.1:c.*738+250_*1769-1948del
ENST00000699818.1:c.739+250_1770-1948del
ENST00000699819.1:c.*301+250_*1332-1948del
ENST00000699820.1:c.1144+250_*113-1948del
ENST00000699821.1:c.739+250_1770-1948del
ENST00000699822.1:c.*596+250_*1627-1948del
ENST00000699823.1:c.739+250_1770-1948del
ENST00000699824.1:c.*647+250_*1678-1948del
ENST00000699825.1:c.584-1930_1614-1948del
ENST00000699826.1:c.*543+250_*1574-1948del
ENST00000699827.1:c.976+250_2007-1948del
ENST00000699828.1:c.*234+250_*1265-1948del
ENST00000699833.1:n.2916+250_3947-1948del
ENST00000699837.1:c.739+250_1770-1948del
ENST00000699838.1:c.*1044+250_*2075-1948del
ENST00000699839.1:c.1330+250_2361-1948del
ENST00000699916.1:c.*401+250_*1432-1948del
ENST00000699917.1:c.*593+250_*1624-1948del
ENST00000699918.1:c.*645+250_*1676-1948del
ENST00000699919.1:c.*731+250_*1762-1948del
ENST00000699920.1:c.*780+250_*1811-1948del
ENST00000699928.1:c.988+2423_*113-1948del
ENST00000699951.1:c.*240+250_*1271-1948del
ENST00000699952.1:c.803+7776_804-7102del ENSP00000514707.1:n.803+7776_804-7102del
ENST00000265849.12:c.1144+250_2175-1948del
ENST00000642292.1:c.739+250_1770-1948del
ENST00000642456.1:c.739+250_1770-1948del
ENST00000643595.1:c.*543+250_*1574-1948del
ENST00000644110.1:c.826+250_1857-1948del
ENST00000265849.11:c.1144+250_2175-1948del
ENST00000382321.5:c.804-6559_972-1948del
ENST00000406569.7:n.1144+250_1679-2930del
ENST00000441476.6:c.826+250_1857-1948del
XM_006715742.2:c.1138+250_2169-1948del
XM_006715744.2:c.211+250_1242-1948del
XM_011515427.1:c.1189+250_2220-1948del
XM_011515428.1:c.1034-1930_2064-1948del
XM_011515429.1:c.826+250_1857-1948del
XM_011515430.1:c.826+250_1857-1948del
NM_000535.6:c.1144+250_2175-1948del
NM_001322003.1:c.739+250_1770-1948del
NM_001322004.1:c.739+250_1770-1948del
NM_001322005.1:c.739+250_1770-1948del
NM_001322006.1:c.989-1930_2019-1948del
NM_001322007.1:c.826+250_1857-1948del
NM_001322008.1:c.826+250_1857-1948del
NM_001322009.1:c.739+250_1770-1948del
NM_001322010.1:c.584-1930_1614-1948del
NM_001322011.1:c.211+250_1242-1948del
NM_001322012.1:c.211+250_1242-1948del
NM_001322013.1:c.571+250_1602-1948del
NM_001322014.1:c.1144+250_2175-1948del
NM_001322015.1:c.835+250_1866-1948del
NR_136154.1:n.1231+250_2262-1948del
XM_006715744.4:c.211+250_1242-1948del
XM_017012342.2:c.211+250_1242-1948del
XM_024446800.1:c.584-1930_1614-1948del
NM_000535.7:c.1144+250_2175-1948del
NM_001322003.2:c.739+250_1770-1948del
NM_001322004.2:c.739+250_1770-1948del
NM_001322005.2:c.739+250_1770-1948del
NM_001322006.2:c.989-1930_2019-1948del
NM_001322008.2:c.826+250_1857-1948del
NM_001322009.2:c.739+250_1770-1948del
NM_001322010.2:c.584-1930_1614-1948del
NM_001322011.2:c.211+250_1242-1948del
NM_001322012.2:c.211+250_1242-1948del
NM_001322013.2:c.571+250_1602-1948del
NM_001322014.2:c.1144+250_2175-1948del
NM_001322015.2:c.835+250_1866-1948del
NM_001322007.2:c.826+250_1857-1948del