Canonical Allele Identifier: CA2695198408

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2674198
• ClinVar RCV Id: RCV003452394

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982990_5982993del , CM000669.2:g.5982990_5982993del	GRCh38
NC_000007.13:g.6022621_6022624del , CM000669.1:g.6022621_6022624del	GRCh37
NC_000007.12:g.5989147_5989150del	NCBI36
NG_008466.1:g.31115_31118del , LRG_161:g.31115_31118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1403-1_*1405del
ENST00000699840.2:c.2004-1_2006del
ENST00000699930.2:c.1899-1_1901del
ENST00000406569.8:c.1678+4095_1678+4098del	ENSP00000514464.1:n.1678+4095_1678+4098del
ENST00000644110.2:c.*1601-1_*1603del
ENST00000699752.1:c.1851-1_1853del
ENST00000699753.1:c.*1428-1_*1430del
ENST00000699754.1:c.1809-1_1811del
ENST00000699755.1:c.*1406-1_*1408del
ENST00000699756.1:c.*1594-1_*1596del
ENST00000699757.1:c.*1264-1_*1266del
ENST00000699758.1:c.*1264-1_*1266del
ENST00000699759.1:n.2861-1_2863del
ENST00000699760.1:c.1689-1_1691del
ENST00000699761.1:c.1602-1_1604del
ENST00000699762.1:c.1434-1_1436del
ENST00000699763.1:c.*1097-1_*1099del
ENST00000699764.1:c.*325-1_*327del
ENST00000699765.1:c.*1103-1_*1105del
ENST00000699766.1:c.2007-1_2009del
ENST00000699767.1:c.2007-1_2009del
ENST00000699768.1:c.2007-1_2009del
ENST00000699811.1:c.1602-1_1604del
ENST00000699813.1:n.2120-1_2122del
ENST00000699814.1:c.1630-1_1632del
ENST00000699815.1:c.*1538-1_*1540del
ENST00000699816.1:c.*897-1_*899del
ENST00000699817.1:c.*1601-1_*1603del
ENST00000699818.1:c.1602-1_1604del
ENST00000699819.1:c.*1164-1_*1166del
ENST00000699820.1:c.1145-1_1147del
ENST00000699821.1:c.1602-1_1604del
ENST00000699822.1:c.*1459-1_*1461del
ENST00000699823.1:c.1602-1_1604del
ENST00000699824.1:c.*1510-1_*1512del
ENST00000699825.1:c.1446-1_1448del
ENST00000699826.1:c.*1406-1_*1408del
ENST00000699827.1:c.1839-1_1841del
ENST00000699828.1:c.*1097-1_*1099del
ENST00000699833.1:n.3779-1_3781del
ENST00000699837.1:c.1602-1_1604del
ENST00000699838.1:c.*1907-1_*1909del
ENST00000699839.1:c.2193-1_2195del
ENST00000699916.1:c.*1264-1_*1266del
ENST00000699917.1:c.*1456-1_*1458del
ENST00000699918.1:c.*1508-1_*1510del
ENST00000699919.1:c.*1594-1_*1596del
ENST00000699920.1:c.*1643-1_*1645del
ENST00000699928.1:c.989-1_991del
ENST00000699951.1:c.*1103-1_*1105del
ENST00000699952.1:c.804-9450_804-9447del	ENSP00000514707.1:n.804-9450_804-9447del
ENST00000265849.12:c.2007-1_2009del
ENST00000642292.1:c.1602-1_1604del
ENST00000642456.1:c.1602-1_1604del
ENST00000643595.1:c.*1406-1_*1408del
ENST00000644110.1:c.1689-1_1691del
ENST00000265849.11:c.2007-1_2009del
ENST00000382321.5:c.804-1_806del
ENST00000406569.7:n.1678+4095_1678+4098del
ENST00000441476.6:c.1689-1_1691del
ENST00000469652.1:n.63-87_63-84del
NM_000535.5:c.2007-1_2009del , LRG_161t1:c.2007-1_2009del
NR_003085.2:n.2089-1_2091del
XM_006715742.2:c.2001-1_2003del
XM_006715744.2:c.1074-1_1076del
XM_011515427.1:c.2052-1_2054del
XM_011515428.1:c.1896-1_1898del
XM_011515429.1:c.1689-1_1691del
XM_011515430.1:c.1689-1_1691del
NM_000535.6:c.2007-1_2009del
NM_001322003.1:c.1602-1_1604del
NM_001322004.1:c.1602-1_1604del
NM_001322005.1:c.1602-1_1604del
NM_001322006.1:c.1851-1_1853del
NM_001322007.1:c.1689-1_1691del
NM_001322008.1:c.1689-1_1691del
NM_001322009.1:c.1602-1_1604del
NM_001322010.1:c.1446-1_1448del
NM_001322011.1:c.1074-1_1076del
NM_001322012.1:c.1074-1_1076del
NM_001322013.1:c.1434-1_1436del
NM_001322014.1:c.2007-1_2009del
NM_001322015.1:c.1698-1_1700del
NR_136154.1:n.2094-1_2096del
XM_006715744.4:c.1074-1_1076del
XM_017012342.2:c.1074-1_1076del
XM_024446800.1:c.1446-1_1448del
NM_000535.7:c.2007-1_2009del
NM_001322003.2:c.1602-1_1604del
NM_001322004.2:c.1602-1_1604del
NM_001322005.2:c.1602-1_1604del
NM_001322006.2:c.1851-1_1853del
NM_001322008.2:c.1689-1_1691del
NM_001322009.2:c.1602-1_1604del
NM_001322010.2:c.1446-1_1448del
NM_001322011.2:c.1074-1_1076del
NM_001322012.2:c.1074-1_1076del
NM_001322013.2:c.1434-1_1436del
NM_001322014.2:c.2007-1_2009del
NM_001322015.2:c.1698-1_1700del
NM_001322007.2:c.1689-1_1691del