Canonical Allele Identifier: CA1139659553

Gene: PMS2

Linked Data

• ClinVar Variation Id: 936173
• ClinVar RCV Id: RCV001204915
• dbSNP Id: rs1782949480

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986881del , CM000669.2:g.5986881del	GRCh38
NC_000007.13:g.6026512del , CM000669.1:g.6026512del	GRCh37
NC_000007.12:g.5993038del	NCBI36
NG_008466.1:g.27227del , LRG_161:g.27227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1281del	ENSP00000514615.2:n.*1281del
ENST00000699840.2:c.1882del	ENSP00000514638.2:p.Ile628Ter
ENST00000699930.2:c.1777del	ENSP00000514695.2:p.Ile593Ter
ENST00000406569.8:c.1678+207del	ENSP00000514464.1:n.1678+207del
ENST00000644110.2:c.*1479del	ENSP00000496392.2:n.*1479del
ENST00000699752.1:c.1729del	ENSP00000514561.1:p.Ile577Ter
ENST00000699753.1:c.*1306del	ENSP00000514562.1:n.*1306del
ENST00000699754.1:c.1687del	ENSP00000514563.1:p.Ile563Ter
ENST00000699755.1:c.*1284del	ENSP00000514564.1:n.*1284del
ENST00000699756.1:c.*1472del	ENSP00000514565.1:n.*1472del
ENST00000699757.1:c.*1142del	ENSP00000514566.1:n.*1142del
ENST00000699758.1:c.*1142del	ENSP00000514567.1:n.*1142del
ENST00000699759.1:n.2739del
ENST00000699760.1:c.1567del	ENSP00000514568.1:p.Ile523Ter
ENST00000699761.1:c.1480del	ENSP00000514569.1:p.Ile494Ter
ENST00000699762.1:c.1312del	ENSP00000514570.1:p.Ile438Ter
ENST00000699763.1:c.*975del	ENSP00000514571.1:n.*975del
ENST00000699764.1:c.*203del	ENSP00000514572.1:n.*203del
ENST00000699765.1:c.*981del	ENSP00000514573.1:n.*981del
ENST00000699766.1:c.1885del	ENSP00000514574.1:p.Ile629Ter
ENST00000699767.1:c.1885del	ENSP00000514575.1:p.Ile629Ter
ENST00000699768.1:c.1885del	ENSP00000514576.1:p.Ile629Ter
ENST00000699811.1:c.1480del	ENSP00000514614.1:p.Ile494Ter
ENST00000699813.1:n.1998del
ENST00000699814.1:c.1508del
ENST00000699815.1:c.*1416del	ENSP00000514616.1:n.*1416del
ENST00000699816.1:c.*775del	ENSP00000514617.1:n.*775del
ENST00000699817.1:c.*1479del	ENSP00000514618.1:n.*1479del
ENST00000699818.1:c.1480del	ENSP00000514619.1:p.Ile494Ter
ENST00000699819.1:c.*1042del	ENSP00000514620.1:n.*1042del
ENST00000699820.1:c.1144+2920del	ENSP00000514621.1:n.1144+2920del
ENST00000699821.1:c.1480del	ENSP00000514622.1:p.Ile494Ter
ENST00000699822.1:c.*1337del	ENSP00000514623.1:n.*1337del
ENST00000699823.1:c.1480del	ENSP00000514624.1:p.Ile494Ter
ENST00000699824.1:c.*1388del	ENSP00000514625.1:n.*1388del
ENST00000699825.1:c.1324del	ENSP00000514626.1:p.Ile442Ter
ENST00000699826.1:c.*1284del	ENSP00000514627.1:n.*1284del
ENST00000699827.1:c.1717del	ENSP00000514628.1:p.Ile573Ter
ENST00000699828.1:c.*975del	ENSP00000514629.1:n.*975del
ENST00000699833.1:n.3657del
ENST00000699837.1:c.1480del	ENSP00000514635.1:p.Ile494Ter
ENST00000699838.1:c.*1785del	ENSP00000514636.1:n.*1785del
ENST00000699839.1:c.2071del	ENSP00000514637.1:p.Ile691Ter
ENST00000699916.1:c.*1142del	ENSP00000514684.1:n.*1142del
ENST00000699917.1:c.*1334del	ENSP00000514685.1:n.*1334del
ENST00000699918.1:c.*1386del	ENSP00000514686.1:n.*1386del
ENST00000699919.1:c.*1472del	ENSP00000514687.1:n.*1472del
ENST00000699920.1:c.*1521del	ENSP00000514688.1:n.*1521del
ENST00000699928.1:c.989-3889del	ENSP00000514693.1:n.989-3889del
ENST00000699951.1:c.*981del	ENSP00000514706.1:n.*981del
ENST00000699952.1:c.803+10446del	ENSP00000514707.1:n.803+10446del
ENST00000265849.12:c.1885del MANE Select	ENSP00000265849.7:p.Ile629Ter
ENST00000642292.1:c.1480del	ENSP00000495524.1:p.Ile494Ter
ENST00000642456.1:c.1480del	ENSP00000493814.1:p.Ile494Ter
ENST00000643595.1:c.*1284del	ENSP00000494497.1:n.*1284del
ENST00000644110.1:c.1567del	ENSP00000496392.1:p.Ile523Ter
ENST00000265849.11:c.1885del	ENSP00000265849.7:p.Ile629Ter
ENST00000382321.5:c.804-3889del	ENSP00000371758.4:n.804-3889del
ENST00000406569.7:n.1678+207del
ENST00000441476.6:c.1567del	ENSP00000392843.2:p.Ile523Ter
ENST00000469652.1:n.63-3975del
NM_000535.5:c.1885del , LRG_161t1:c.1885del	NP_000526.1:p.Ile629Ter
NR_003085.2:n.1967del
XM_006715742.2:c.1879del	XP_006715805.1:p.Ile627Ter
XM_006715744.2:c.952del	XP_006715807.1:p.Ile318Ter
XM_011515427.1:c.1930del	XP_011513729.1:p.Ile644Ter
XM_011515428.1:c.1774del	XP_011513730.1:p.Ile592Ter
XM_011515429.1:c.1567del	XP_011513731.1:p.Ile523Ter
XM_011515430.1:c.1567del	XP_011513732.1:p.Ile523Ter
NM_000535.6:c.1885del	NP_000526.2:p.Ile629Ter
NM_001322003.1:c.1480del	NP_001308932.1:p.Ile494Ter
NM_001322004.1:c.1480del	NP_001308933.1:p.Ile494Ter
NM_001322005.1:c.1480del	NP_001308934.1:p.Ile494Ter
NM_001322006.1:c.1729del	NP_001308935.1:p.Ile577Ter
NM_001322007.1:c.1567del	NP_001308936.1:p.Ile523Ter
NM_001322008.1:c.1567del	NP_001308937.1:p.Ile523Ter
NM_001322009.1:c.1480del	NP_001308938.1:p.Ile494Ter
NM_001322010.1:c.1324del	NP_001308939.1:p.Ile442Ter
NM_001322011.1:c.952del	NP_001308940.1:p.Ile318Ter
NM_001322012.1:c.952del	NP_001308941.1:p.Ile318Ter
NM_001322013.1:c.1312del	NP_001308942.1:p.Ile438Ter
NM_001322014.1:c.1885del	NP_001308943.1:p.Ile629Ter
NM_001322015.1:c.1576del	NP_001308944.1:p.Ile526Ter
NR_136154.1:n.1972del
XM_006715744.4:c.952del	XP_006715807.1:p.Ile318Ter
XM_017012342.2:c.952del	XP_016867831.1:p.Ile318Ter
XM_024446800.1:c.1324del	XP_024302568.1:p.Ile442Ter
NM_000535.7:c.1885del MANE Select	NP_000526.2:p.Ile629Ter
NM_001322003.2:c.1480del	NP_001308932.1:p.Ile494Ter
NM_001322004.2:c.1480del	NP_001308933.1:p.Ile494Ter
NM_001322005.2:c.1480del	NP_001308934.1:p.Ile494Ter
NM_001322006.2:c.1729del	NP_001308935.1:p.Ile577Ter
NM_001322008.2:c.1567del	NP_001308937.1:p.Ile523Ter
NM_001322009.2:c.1480del	NP_001308938.1:p.Ile494Ter
NM_001322010.2:c.1324del	NP_001308939.1:p.Ile442Ter
NM_001322011.2:c.952del	NP_001308940.1:p.Ile318Ter
NM_001322012.2:c.952del	NP_001308941.1:p.Ile318Ter
NM_001322013.2:c.1312del	NP_001308942.1:p.Ile438Ter
NM_001322014.2:c.1885del	NP_001308943.1:p.Ile629Ter
NM_001322015.2:c.1576del	NP_001308944.1:p.Ile526Ter
NM_001322007.2:c.1567del	NP_001308936.1:p.Ile523Ter