Canonical Allele Identifier: CA2580076885

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1780627
• ClinVar RCV Id: RCV002410220

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986953del , CM000669.2:g.5986953del	GRCh38
NC_000007.13:g.6026584del , CM000669.1:g.6026584del	GRCh37
NC_000007.12:g.5993110del	NCBI36
NG_008466.1:g.27155del , LRG_161:g.27155del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1209del	ENSP00000514615.2:n.*1209del
ENST00000699840.2:c.1810del	ENSP00000514638.2:p.Val604LeufsTer3
ENST00000699930.2:c.1705del	ENSP00000514695.2:p.Val569LeufsTer3
ENST00000406569.8:c.1678+135del	ENSP00000514464.1:n.1678+135del
ENST00000644110.2:c.*1407del	ENSP00000496392.2:n.*1407del
ENST00000699752.1:c.1657del	ENSP00000514561.1:p.Val553LeufsTer3
ENST00000699753.1:c.*1234del	ENSP00000514562.1:n.*1234del
ENST00000699754.1:c.1615del	ENSP00000514563.1:p.Val539LeufsTer3
ENST00000699755.1:c.*1212del	ENSP00000514564.1:n.*1212del
ENST00000699756.1:c.*1400del	ENSP00000514565.1:n.*1400del
ENST00000699757.1:c.*1070del	ENSP00000514566.1:n.*1070del
ENST00000699758.1:c.*1070del	ENSP00000514567.1:n.*1070del
ENST00000699759.1:n.2667del
ENST00000699760.1:c.1495del	ENSP00000514568.1:p.Val499LeufsTer3
ENST00000699761.1:c.1408del	ENSP00000514569.1:p.Val470LeufsTer3
ENST00000699762.1:c.1240del	ENSP00000514570.1:p.Val414LeufsTer3
ENST00000699763.1:c.*903del	ENSP00000514571.1:n.*903del
ENST00000699764.1:c.*131del	ENSP00000514572.1:n.*131del
ENST00000699765.1:c.*909del	ENSP00000514573.1:n.*909del
ENST00000699766.1:c.1813del	ENSP00000514574.1:p.Val605LeufsTer3
ENST00000699767.1:c.1813del	ENSP00000514575.1:p.Val605LeufsTer3
ENST00000699768.1:c.1813del	ENSP00000514576.1:p.Val605LeufsTer3
ENST00000699811.1:c.1408del	ENSP00000514614.1:p.Val470LeufsTer3
ENST00000699813.1:n.1926del
ENST00000699814.1:c.1436del
ENST00000699815.1:c.*1344del	ENSP00000514616.1:n.*1344del
ENST00000699816.1:c.*703del	ENSP00000514617.1:n.*703del
ENST00000699817.1:c.*1407del	ENSP00000514618.1:n.*1407del
ENST00000699818.1:c.1408del	ENSP00000514619.1:p.Val470LeufsTer3
ENST00000699819.1:c.*970del	ENSP00000514620.1:n.*970del
ENST00000699820.1:c.1144+2848del	ENSP00000514621.1:n.1144+2848del
ENST00000699821.1:c.1408del	ENSP00000514622.1:p.Val470LeufsTer3
ENST00000699822.1:c.*1265del	ENSP00000514623.1:n.*1265del
ENST00000699823.1:c.1408del	ENSP00000514624.1:p.Val470LeufsTer3
ENST00000699824.1:c.*1316del	ENSP00000514625.1:n.*1316del
ENST00000699825.1:c.1252del	ENSP00000514626.1:p.Val418LeufsTer3
ENST00000699826.1:c.*1212del	ENSP00000514627.1:n.*1212del
ENST00000699827.1:c.1645del	ENSP00000514628.1:p.Val549LeufsTer3
ENST00000699828.1:c.*903del	ENSP00000514629.1:n.*903del
ENST00000699833.1:n.3585del
ENST00000699837.1:c.1408del	ENSP00000514635.1:p.Val470LeufsTer3
ENST00000699838.1:c.*1713del	ENSP00000514636.1:n.*1713del
ENST00000699839.1:c.1999del	ENSP00000514637.1:p.Val667LeufsTer3
ENST00000699916.1:c.*1070del	ENSP00000514684.1:n.*1070del
ENST00000699917.1:c.*1262del	ENSP00000514685.1:n.*1262del
ENST00000699918.1:c.*1314del	ENSP00000514686.1:n.*1314del
ENST00000699919.1:c.*1400del	ENSP00000514687.1:n.*1400del
ENST00000699920.1:c.*1449del	ENSP00000514688.1:n.*1449del
ENST00000699928.1:c.989-3961del	ENSP00000514693.1:n.989-3961del
ENST00000699929.1:c.*1114del	ENSP00000514694.1:n.*1114del
ENST00000699930.1:c.1705del	ENSP00000514695.1:p.Val569LeufsTer3
ENST00000699931.1:n.3241del
ENST00000699951.1:c.*909del	ENSP00000514706.1:n.*909del
ENST00000699952.1:c.803+10374del	ENSP00000514707.1:n.803+10374del
ENST00000699953.1:c.*920del	ENSP00000514708.1:n.*920del
ENST00000699954.1:c.*1114del	ENSP00000514709.1:n.*1114del
ENST00000265849.12:c.1813del MANE Select	ENSP00000265849.7:p.Val605LeufsTer3
ENST00000642292.1:c.1408del	ENSP00000495524.1:p.Val470LeufsTer3
ENST00000642456.1:c.1408del	ENSP00000493814.1:p.Val470LeufsTer3
ENST00000643595.1:c.*1212del	ENSP00000494497.1:n.*1212del
ENST00000644110.1:c.1495del	ENSP00000496392.1:p.Val499LeufsTer3
ENST00000265849.11:c.1813del	ENSP00000265849.7:p.Val605LeufsTer3
ENST00000382321.5:c.804-3961del	ENSP00000371758.4:n.804-3961del
ENST00000406569.7:n.1678+135del
ENST00000441476.6:c.1495del	ENSP00000392843.2:p.Val499LeufsTer3
ENST00000469652.1:n.63-4047del
NM_000535.5:c.1813del , LRG_161t1:c.1813del	NP_000526.1:p.Val605LeufsTer3
NR_003085.2:n.1895del
XM_006715742.2:c.1807del	XP_006715805.1:p.Val603LeufsTer3
XM_006715744.2:c.880del	XP_006715807.1:p.Val294LeufsTer3
XM_011515427.1:c.1858del	XP_011513729.1:p.Val620LeufsTer3
XM_011515428.1:c.1702del	XP_011513730.1:p.Val568LeufsTer3
XM_011515429.1:c.1495del	XP_011513731.1:p.Val499LeufsTer3
XM_011515430.1:c.1495del	XP_011513732.1:p.Val499LeufsTer3
NM_000535.6:c.1813del	NP_000526.2:p.Val605LeufsTer3
NM_001322003.1:c.1408del	NP_001308932.1:p.Val470LeufsTer3
NM_001322004.1:c.1408del	NP_001308933.1:p.Val470LeufsTer3
NM_001322005.1:c.1408del	NP_001308934.1:p.Val470LeufsTer3
NM_001322006.1:c.1657del	NP_001308935.1:p.Val553LeufsTer3
NM_001322007.1:c.1495del	NP_001308936.1:p.Val499LeufsTer3
NM_001322008.1:c.1495del	NP_001308937.1:p.Val499LeufsTer3
NM_001322009.1:c.1408del	NP_001308938.1:p.Val470LeufsTer3
NM_001322010.1:c.1252del	NP_001308939.1:p.Val418LeufsTer3
NM_001322011.1:c.880del	NP_001308940.1:p.Val294LeufsTer3
NM_001322012.1:c.880del	NP_001308941.1:p.Val294LeufsTer3
NM_001322013.1:c.1240del	NP_001308942.1:p.Val414LeufsTer3
NM_001322014.1:c.1813del	NP_001308943.1:p.Val605LeufsTer3
NM_001322015.1:c.1504del	NP_001308944.1:p.Val502LeufsTer3
NR_136154.1:n.1900del
XM_006715744.4:c.880del	XP_006715807.1:p.Val294LeufsTer3
XM_017012342.2:c.880del	XP_016867831.1:p.Val294LeufsTer3
XM_024446800.1:c.1252del	XP_024302568.1:p.Val418LeufsTer3
NM_000535.7:c.1813del MANE Select	NP_000526.2:p.Val605LeufsTer3
NM_001322003.2:c.1408del	NP_001308932.1:p.Val470LeufsTer3
NM_001322004.2:c.1408del	NP_001308933.1:p.Val470LeufsTer3
NM_001322005.2:c.1408del	NP_001308934.1:p.Val470LeufsTer3
NM_001322006.2:c.1657del	NP_001308935.1:p.Val553LeufsTer3
NM_001322008.2:c.1495del	NP_001308937.1:p.Val499LeufsTer3
NM_001322009.2:c.1408del	NP_001308938.1:p.Val470LeufsTer3
NM_001322010.2:c.1252del	NP_001308939.1:p.Val418LeufsTer3
NM_001322011.2:c.880del	NP_001308940.1:p.Val294LeufsTer3
NM_001322012.2:c.880del	NP_001308941.1:p.Val294LeufsTer3
NM_001322013.2:c.1240del	NP_001308942.1:p.Val414LeufsTer3
NM_001322014.2:c.1813del	NP_001308943.1:p.Val605LeufsTer3
NM_001322015.2:c.1504del	NP_001308944.1:p.Val502LeufsTer3
NM_001322007.2:c.1495del	NP_001308936.1:p.Val499LeufsTer3