Canonical Allele Identifier: CA2581463459
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5973306_5982991del , CM000669.2:g.5973306_5982991del GRCh38
NC_000007.13:g.6012937_6022622del , CM000669.1:g.6012937_6022622del GRCh37
NC_000007.12:g.5979463_5989148del NCBI36
NG_008466.1:g.31116_40801del , LRG_161:g.31116_40801del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1403_*2078del
ENST00000699840.2:c.2004_*93del
ENST00000699930.2:c.1899_*93del
ENST00000406569.8:c.1678+4096_2042del
ENST00000699752.1:c.1851_*93del
ENST00000699753.1:c.*1428_*2103del
ENST00000699754.1:c.1809_*93del
ENST00000699755.1:c.*1406_*2081del
ENST00000699756.1:c.*1594_*2269del
ENST00000699757.1:c.*1264_*1939del
ENST00000699758.1:c.*1264_*1939del
ENST00000699759.1:n.2861_3536del
ENST00000699760.1:c.1689_*93del
ENST00000699761.1:c.1602_*93del
ENST00000699762.1:c.1434_*93del
ENST00000699763.1:c.*1097_*1772del
ENST00000699764.1:c.*325_*1000del
ENST00000699765.1:c.*1103_*1677del
ENST00000699766.1:c.2007_*93del
ENST00000699767.1:c.2007_*323del
ENST00000699768.1:c.2007_*93del
ENST00000699811.1:c.1602_*93del
ENST00000699813.1:n.2120_2795del
ENST00000699814.1:c.1630_2305del
ENST00000699815.1:c.*1538_*2213del
ENST00000699816.1:c.*897_*1572del
ENST00000699817.1:c.*1601_*2276del
ENST00000699818.1:c.1602_*93del
ENST00000699819.1:c.*1164_*1839del
ENST00000699820.1:c.1145_*620del
ENST00000699821.1:c.1602_*93del
ENST00000699822.1:c.*1459_*2134del
ENST00000699823.1:c.1602_*93del
ENST00000699824.1:c.*1510_*2185del
ENST00000699825.1:c.1446_*93del
ENST00000699826.1:c.*1406_*2081del
ENST00000699827.1:c.1839_*93del
ENST00000699828.1:c.*1097_*1772del
ENST00000699833.1:n.3779_4454del
ENST00000699837.1:c.1602_*93del
ENST00000699838.1:c.*1907_*2582del
ENST00000699839.1:c.2193_*93del
ENST00000699916.1:c.*1264_*1939del
ENST00000699917.1:c.*1456_*2131del
ENST00000699918.1:c.*1508_*2183del
ENST00000699919.1:c.*1594_*2269del
ENST00000699920.1:c.*1643_*2318del
ENST00000699928.1:c.989_*620del
ENST00000699951.1:c.*1103_*1735del
ENST00000699952.1:c.804-9449_*236del
ENST00000265849.12:c.2007_*93del
ENST00000642292.1:c.1602_*93del
ENST00000642456.1:c.1602_*93del
ENST00000265849.11:c.2007_*93del
ENST00000441476.6:c.1689_*93del
NM_000535.5:c.2007_*93del , LRG_161t1:c.2007_*93del
NR_003085.2:n.2089_2764del
XM_006715742.2:c.2001_*93del
XM_006715744.2:c.1074_*93del
XM_011515427.1:c.2052_*93del
XM_011515428.1:c.1896_*93del
XM_011515429.1:c.1689_*93del
XM_011515430.1:c.1689_*93del
NM_000535.6:c.2007_*93del
NM_001322003.1:c.1602_*93del
NM_001322004.1:c.1602_*93del
NM_001322005.1:c.1602_*93del
NM_001322006.1:c.1851_*93del
NM_001322007.1:c.1689_*93del
NM_001322008.1:c.1689_*93del
NM_001322009.1:c.1602_*93del
NM_001322010.1:c.1446_*93del
NM_001322011.1:c.1074_*93del
NM_001322012.1:c.1074_*93del
NM_001322013.1:c.1434_*93del
NM_001322014.1:c.2007_*93del
NM_001322015.1:c.1698_*93del
NR_136154.1:n.2094_2726del
XM_006715744.4:c.1074_*93del
XM_017012342.2:c.1074_*93del
XM_024446800.1:c.1446_*93del
NM_000535.7:c.2007_*93del
NM_001322003.2:c.1602_*93del
NM_001322004.2:c.1602_*93del
NM_001322005.2:c.1602_*93del
NM_001322006.2:c.1851_*93del
NM_001322008.2:c.1689_*93del
NM_001322009.2:c.1602_*93del
NM_001322010.2:c.1446_*93del
NM_001322011.2:c.1074_*93del
NM_001322012.2:c.1074_*93del
NM_001322013.2:c.1434_*93del
NM_001322014.2:c.2007_*93del
NM_001322015.2:c.1698_*93del
NM_001322007.2:c.1689_*93del