Canonical Allele Identifier: CA2825001540

Gene: PMS2

Linked Data

• ClinVar Variation Id: 3231995
• ClinVar RCV Id: RCV004518710

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986764del , CM000669.2:g.5986764del	GRCh38
NC_000007.13:g.6026395del , CM000669.1:g.6026395del	GRCh37
NC_000007.12:g.5992921del	NCBI36
NG_008466.1:g.27343del , LRG_161:g.27343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1397del	ENSP00000514615.2:n.*1397del
ENST00000699840.2:c.1998del	ENSP00000514638.2:p.Ile667Ter
ENST00000699930.2:c.1893del	ENSP00000514695.2:p.Ile632Ter
ENST00000406569.8:c.1678+323del	ENSP00000514464.1:n.1678+323del
ENST00000644110.2:c.*1595del	ENSP00000496392.2:n.*1595del
ENST00000699752.1:c.1845del	ENSP00000514561.1:p.Ile616Ter
ENST00000699753.1:c.*1422del	ENSP00000514562.1:n.*1422del
ENST00000699754.1:c.1803del	ENSP00000514563.1:p.Ile602Ter
ENST00000699755.1:c.*1400del	ENSP00000514564.1:n.*1400del
ENST00000699756.1:c.*1588del	ENSP00000514565.1:n.*1588del
ENST00000699757.1:c.*1258del	ENSP00000514566.1:n.*1258del
ENST00000699758.1:c.*1258del	ENSP00000514567.1:n.*1258del
ENST00000699759.1:n.2855del
ENST00000699760.1:c.1683del	ENSP00000514568.1:p.Ile562Ter
ENST00000699761.1:c.1596del	ENSP00000514569.1:p.Ile533Ter
ENST00000699762.1:c.1428del	ENSP00000514570.1:p.Ile477Ter
ENST00000699763.1:c.*1091del	ENSP00000514571.1:n.*1091del
ENST00000699764.1:c.*319del	ENSP00000514572.1:n.*319del
ENST00000699765.1:c.*1097del	ENSP00000514573.1:n.*1097del
ENST00000699766.1:c.2001del	ENSP00000514574.1:p.Ile668Ter
ENST00000699767.1:c.2001del	ENSP00000514575.1:p.Ile668Ter
ENST00000699768.1:c.2001del	ENSP00000514576.1:p.Ile668Ter
ENST00000699811.1:c.1596del	ENSP00000514614.1:p.Ile533Ter
ENST00000699813.1:n.2114del
ENST00000699814.1:c.1624del
ENST00000699815.1:c.*1532del	ENSP00000514616.1:n.*1532del
ENST00000699816.1:c.*891del	ENSP00000514617.1:n.*891del
ENST00000699817.1:c.*1595del	ENSP00000514618.1:n.*1595del
ENST00000699818.1:c.1596del	ENSP00000514619.1:p.Ile533Ter
ENST00000699819.1:c.*1158del	ENSP00000514620.1:n.*1158del
ENST00000699820.1:c.1144+3036del	ENSP00000514621.1:n.1144+3036del
ENST00000699821.1:c.1596del	ENSP00000514622.1:p.Ile533Ter
ENST00000699822.1:c.*1453del	ENSP00000514623.1:n.*1453del
ENST00000699823.1:c.1596del	ENSP00000514624.1:p.Ile533Ter
ENST00000699824.1:c.*1504del	ENSP00000514625.1:n.*1504del
ENST00000699825.1:c.1440del	ENSP00000514626.1:p.Ile481Ter
ENST00000699826.1:c.*1400del	ENSP00000514627.1:n.*1400del
ENST00000699827.1:c.1833del	ENSP00000514628.1:p.Ile612Ter
ENST00000699828.1:c.*1091del	ENSP00000514629.1:n.*1091del
ENST00000699833.1:n.3773del
ENST00000699837.1:c.1596del	ENSP00000514635.1:p.Ile533Ter
ENST00000699838.1:c.*1901del	ENSP00000514636.1:n.*1901del
ENST00000699839.1:c.2187del	ENSP00000514637.1:p.Ile730Ter
ENST00000699916.1:c.*1258del	ENSP00000514684.1:n.*1258del
ENST00000699917.1:c.*1450del	ENSP00000514685.1:n.*1450del
ENST00000699918.1:c.*1502del	ENSP00000514686.1:n.*1502del
ENST00000699919.1:c.*1588del	ENSP00000514687.1:n.*1588del
ENST00000699920.1:c.*1637del	ENSP00000514688.1:n.*1637del
ENST00000699928.1:c.989-3773del	ENSP00000514693.1:n.989-3773del
ENST00000699951.1:c.*1097del	ENSP00000514706.1:n.*1097del
ENST00000699952.1:c.803+10562del	ENSP00000514707.1:n.803+10562del
ENST00000265849.12:c.2001del MANE Select	ENSP00000265849.7:p.Ile668Ter
ENST00000642292.1:c.1596del	ENSP00000495524.1:p.Ile533Ter
ENST00000642456.1:c.1596del	ENSP00000493814.1:p.Ile533Ter
ENST00000643595.1:c.*1400del	ENSP00000494497.1:n.*1400del
ENST00000644110.1:c.1683del	ENSP00000496392.1:p.Ile562Ter
ENST00000265849.11:c.2001del	ENSP00000265849.7:p.Ile668Ter
ENST00000382321.5:c.804-3773del	ENSP00000371758.4:n.804-3773del
ENST00000406569.7:n.1678+323del
ENST00000441476.6:c.1683del	ENSP00000392843.2:p.Ile562Ter
ENST00000469652.1:n.63-3859del
NM_000535.5:c.2001del , LRG_161t1:c.2001del	NP_000526.1:p.Ile668Ter
NR_003085.2:n.2083del
XM_006715742.2:c.1995del	XP_006715805.1:p.Ile666Ter
XM_006715744.2:c.1068del	XP_006715807.1:p.Ile357Ter
XM_011515427.1:c.2046del	XP_011513729.1:p.Ile683Ter
XM_011515428.1:c.1890del	XP_011513730.1:p.Ile631Ter
XM_011515429.1:c.1683del	XP_011513731.1:p.Ile562Ter
XM_011515430.1:c.1683del	XP_011513732.1:p.Ile562Ter
NM_000535.6:c.2001del	NP_000526.2:p.Ile668Ter
NM_001322003.1:c.1596del	NP_001308932.1:p.Ile533Ter
NM_001322004.1:c.1596del	NP_001308933.1:p.Ile533Ter
NM_001322005.1:c.1596del	NP_001308934.1:p.Ile533Ter
NM_001322006.1:c.1845del	NP_001308935.1:p.Ile616Ter
NM_001322007.1:c.1683del	NP_001308936.1:p.Ile562Ter
NM_001322008.1:c.1683del	NP_001308937.1:p.Ile562Ter
NM_001322009.1:c.1596del	NP_001308938.1:p.Ile533Ter
NM_001322010.1:c.1440del	NP_001308939.1:p.Ile481Ter
NM_001322011.1:c.1068del	NP_001308940.1:p.Ile357Ter
NM_001322012.1:c.1068del	NP_001308941.1:p.Ile357Ter
NM_001322013.1:c.1428del	NP_001308942.1:p.Ile477Ter
NM_001322014.1:c.2001del	NP_001308943.1:p.Ile668Ter
NM_001322015.1:c.1692del	NP_001308944.1:p.Ile565Ter
NR_136154.1:n.2088del
XM_006715744.4:c.1068del	XP_006715807.1:p.Ile357Ter
XM_017012342.2:c.1068del	XP_016867831.1:p.Ile357Ter
XM_024446800.1:c.1440del	XP_024302568.1:p.Ile481Ter
NM_000535.7:c.2001del MANE Select	NP_000526.2:p.Ile668Ter
NM_001322003.2:c.1596del	NP_001308932.1:p.Ile533Ter
NM_001322004.2:c.1596del	NP_001308933.1:p.Ile533Ter
NM_001322005.2:c.1596del	NP_001308934.1:p.Ile533Ter
NM_001322006.2:c.1845del	NP_001308935.1:p.Ile616Ter
NM_001322008.2:c.1683del	NP_001308937.1:p.Ile562Ter
NM_001322009.2:c.1596del	NP_001308938.1:p.Ile533Ter
NM_001322010.2:c.1440del	NP_001308939.1:p.Ile481Ter
NM_001322011.2:c.1068del	NP_001308940.1:p.Ile357Ter
NM_001322012.2:c.1068del	NP_001308941.1:p.Ile357Ter
NM_001322013.2:c.1428del	NP_001308942.1:p.Ile477Ter
NM_001322014.2:c.2001del	NP_001308943.1:p.Ile668Ter
NM_001322015.2:c.1692del	NP_001308944.1:p.Ile565Ter
NM_001322007.2:c.1683del	NP_001308936.1:p.Ile562Ter