Canonical Allele Identifier: CA2697553813

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2682828
• ClinVar RCV Id: RCV003481695

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973306_5981691del , CM000669.2:g.5973306_5981691del	GRCh38
NC_000007.13:g.6012937_6021322del , CM000669.1:g.6012937_6021322del	GRCh37
NC_000007.12:g.5979463_5987848del	NCBI36
NG_008466.1:g.32416_40801del , LRG_161:g.32416_40801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1570+1133_*2078del
ENST00000699840.2:c.2171+1133_*93del
ENST00000699930.2:c.2066+1133_*93del
ENST00000406569.8:c.1679-3977_2042del
ENST00000699752.1:c.2018+1133_*93del
ENST00000699753.1:c.*1595+1133_*2103del
ENST00000699754.1:c.1976+1133_*93del
ENST00000699755.1:c.*1573+1133_*2081del
ENST00000699756.1:c.*1761+1133_*2269del
ENST00000699757.1:c.*1431+1133_*1939del
ENST00000699758.1:c.*1431+1133_*1939del
ENST00000699759.1:n.3028+1133_3536del
ENST00000699760.1:c.1856+1133_*93del
ENST00000699761.1:c.1769+1133_*93del
ENST00000699762.1:c.1601+1133_*93del
ENST00000699763.1:c.*1264+1133_*1772del
ENST00000699764.1:c.*492+1133_*1000del
ENST00000699765.1:c.*1270+1133_*1677del
ENST00000699766.1:c.2174+1133_*93del
ENST00000699767.1:c.2174+1133_*323del
ENST00000699768.1:c.2174+1133_*93del
ENST00000699811.1:c.1769+1133_*93del
ENST00000699813.1:n.2287+1133_2795del
ENST00000699814.1:c.1797+1133_2305del
ENST00000699815.1:c.*1705+1133_*2213del
ENST00000699816.1:c.*1064+1133_*1572del
ENST00000699817.1:c.*1768+1133_*2276del
ENST00000699818.1:c.1769+1133_*93del
ENST00000699819.1:c.*1331+1133_*1839del
ENST00000699820.1:c.*112+1133_*620del
ENST00000699821.1:c.1769+1133_*93del
ENST00000699822.1:c.*1626+1133_*2134del
ENST00000699823.1:c.1769+1133_*93del
ENST00000699824.1:c.*1677+1133_*2185del
ENST00000699825.1:c.1613+1133_*93del
ENST00000699826.1:c.*1573+1133_*2081del
ENST00000699827.1:c.2006+1133_*93del
ENST00000699828.1:c.*1264+1133_*1772del
ENST00000699833.1:n.3946+1133_4454del
ENST00000699837.1:c.1769+1133_*93del
ENST00000699838.1:c.*2074+1133_*2582del
ENST00000699839.1:c.2360+1133_*93del
ENST00000699916.1:c.*1431+1133_*1939del
ENST00000699917.1:c.*1623+1133_*2131del
ENST00000699918.1:c.*1675+1133_*2183del
ENST00000699919.1:c.*1761+1133_*2269del
ENST00000699920.1:c.*1810+1133_*2318del
ENST00000699928.1:c.*112+1133_*620del
ENST00000699951.1:c.*1270+1133_*1735del
ENST00000699952.1:c.804-8149_*236del
ENST00000265849.12:c.2174+1133_*93del
ENST00000642292.1:c.1769+1133_*93del
ENST00000642456.1:c.1769+1133_*93del
ENST00000265849.11:c.2174+1133_*93del
ENST00000441476.6:c.1856+1133_*93del
NM_000535.5:c.2174+1133_*93del , LRG_161t1:c.2174+1133_*93del
NR_003085.2:n.2256+1133_2764del
XM_006715742.2:c.2168+1133_*93del
XM_006715744.2:c.1241+1133_*93del
XM_011515427.1:c.2219+1133_*93del
XM_011515428.1:c.2063+1133_*93del
XM_011515429.1:c.1856+1133_*93del
XM_011515430.1:c.1856+1133_*93del
NM_000535.6:c.2174+1133_*93del
NM_001322003.1:c.1769+1133_*93del
NM_001322004.1:c.1769+1133_*93del
NM_001322005.1:c.1769+1133_*93del
NM_001322006.1:c.2018+1133_*93del
NM_001322007.1:c.1856+1133_*93del
NM_001322008.1:c.1856+1133_*93del
NM_001322009.1:c.1769+1133_*93del
NM_001322010.1:c.1613+1133_*93del
NM_001322011.1:c.1241+1133_*93del
NM_001322012.1:c.1241+1133_*93del
NM_001322013.1:c.1601+1133_*93del
NM_001322014.1:c.2174+1133_*93del
NM_001322015.1:c.1865+1133_*93del
NR_136154.1:n.2261+1133_2726del
XM_006715744.4:c.1241+1133_*93del
XM_017012342.2:c.1241+1133_*93del
XM_024446800.1:c.1613+1133_*93del
NM_000535.7:c.2174+1133_*93del
NM_001322003.2:c.1769+1133_*93del
NM_001322004.2:c.1769+1133_*93del
NM_001322005.2:c.1769+1133_*93del
NM_001322006.2:c.2018+1133_*93del
NM_001322008.2:c.1856+1133_*93del
NM_001322009.2:c.1769+1133_*93del
NM_001322010.2:c.1613+1133_*93del
NM_001322011.2:c.1241+1133_*93del
NM_001322012.2:c.1241+1133_*93del
NM_001322013.2:c.1601+1133_*93del
NM_001322014.2:c.2174+1133_*93del
NM_001322015.2:c.1865+1133_*93del
NM_001322007.2:c.1856+1133_*93del