Canonical Allele Identifier: CA2713826379

Gene: PMS2

Linked Data

• dbSNP Id: rs2128730827

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987335del , CM000669.2:g.5987335del	GRCh38
NC_000007.13:g.6026966del , CM000669.1:g.6026966del	GRCh37
NC_000007.12:g.5993492del	NCBI36
NG_008466.1:g.26773del , LRG_161:g.26773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*827del	ENSP00000514615.2:n.*827del
ENST00000699840.2:c.1428del	ENSP00000514638.2:p.Ser477ValfsTer?
ENST00000699930.2:c.1323del	ENSP00000514695.2:p.Ser442ValfsTer?
ENST00000406569.8:c.1431del	ENSP00000514464.1:p.Ser478ValfsTer?
ENST00000644110.2:c.*1025del	ENSP00000496392.2:n.*1025del
ENST00000699752.1:c.1275del	ENSP00000514561.1:p.Ser426ValfsTer?
ENST00000699753.1:c.*852del	ENSP00000514562.1:n.*852del
ENST00000699754.1:c.1233del	ENSP00000514563.1:p.Ser412ValfsTer?
ENST00000699755.1:c.*830del	ENSP00000514564.1:n.*830del
ENST00000699756.1:c.*1018del	ENSP00000514565.1:n.*1018del
ENST00000699757.1:c.*688del	ENSP00000514566.1:n.*688del
ENST00000699758.1:c.*688del	ENSP00000514567.1:n.*688del
ENST00000699759.1:n.2285del
ENST00000699760.1:c.1113del	ENSP00000514568.1:p.Ser372ValfsTer?
ENST00000699761.1:c.1026del	ENSP00000514569.1:p.Ser343ValfsTer?
ENST00000699762.1:c.858del	ENSP00000514570.1:p.Ser287ValfsTer?
ENST00000699763.1:c.*521del	ENSP00000514571.1:n.*521del
ENST00000699764.1:c.1431del	ENSP00000514572.1:p.Ser478ValfsTer?
ENST00000699765.1:c.*527del	ENSP00000514573.1:n.*527del
ENST00000699766.1:c.1431del	ENSP00000514574.1:p.Ser478ValfsTer?
ENST00000699767.1:c.1431del	ENSP00000514575.1:p.Ser478ValfsTer?
ENST00000699768.1:c.1431del	ENSP00000514576.1:p.Ser478ValfsTer?
ENST00000699811.1:c.1026del	ENSP00000514614.1:p.Ser343ValfsTer?
ENST00000699813.1:n.1544del
ENST00000699814.1:c.1054del
ENST00000699815.1:c.*962del	ENSP00000514616.1:n.*962del
ENST00000699816.1:c.*321del	ENSP00000514617.1:n.*321del
ENST00000699817.1:c.*1025del	ENSP00000514618.1:n.*1025del
ENST00000699818.1:c.1026del	ENSP00000514619.1:p.Ser343ValfsTer?
ENST00000699819.1:c.*588del	ENSP00000514620.1:n.*588del
ENST00000699820.1:c.1144+2466del	ENSP00000514621.1:n.1144+2466del
ENST00000699821.1:c.1026del	ENSP00000514622.1:p.Ser343ValfsTer?
ENST00000699822.1:c.*883del	ENSP00000514623.1:n.*883del
ENST00000699823.1:c.1026del	ENSP00000514624.1:p.Ser343ValfsTer?
ENST00000699824.1:c.*934del	ENSP00000514625.1:n.*934del
ENST00000699825.1:c.870del	ENSP00000514626.1:p.Ser291ValfsTer?
ENST00000699826.1:c.*830del	ENSP00000514627.1:n.*830del
ENST00000699827.1:c.1263del	ENSP00000514628.1:p.Ser422ValfsTer?
ENST00000699828.1:c.*521del	ENSP00000514629.1:n.*521del
ENST00000699833.1:n.3203del
ENST00000699837.1:c.1026del	ENSP00000514635.1:p.Ser343ValfsTer?
ENST00000699838.1:c.*1331del	ENSP00000514636.1:n.*1331del
ENST00000699839.1:c.1617del	ENSP00000514637.1:p.Ser540ValfsTer?
ENST00000699916.1:c.*688del	ENSP00000514684.1:n.*688del
ENST00000699917.1:c.*880del	ENSP00000514685.1:n.*880del
ENST00000699918.1:c.*932del	ENSP00000514686.1:n.*932del
ENST00000699919.1:c.*1018del	ENSP00000514687.1:n.*1018del
ENST00000699920.1:c.*1067del	ENSP00000514688.1:n.*1067del
ENST00000699928.1:c.989-4343del	ENSP00000514693.1:n.989-4343del
ENST00000699929.1:c.*732del	ENSP00000514694.1:n.*732del
ENST00000699930.1:c.1323del	ENSP00000514695.1:p.Ser442ValfsTer?
ENST00000699931.1:n.2859del
ENST00000699951.1:c.*527del	ENSP00000514706.1:n.*527del
ENST00000699952.1:c.803+9992del	ENSP00000514707.1:n.803+9992del
ENST00000699953.1:c.*538del	ENSP00000514708.1:n.*538del
ENST00000699954.1:c.*732del	ENSP00000514709.1:n.*732del
ENST00000265849.12:c.1431del MANE Select	ENSP00000265849.7:p.Ser478ValfsTer?
ENST00000642292.1:c.1026del	ENSP00000495524.1:p.Ser343ValfsTer?
ENST00000642456.1:c.1026del	ENSP00000493814.1:p.Ser343ValfsTer?
ENST00000643595.1:c.*830del	ENSP00000494497.1:n.*830del
ENST00000644110.1:c.1113del	ENSP00000496392.1:p.Ser372ValfsTer?
ENST00000265849.11:c.1431del	ENSP00000265849.7:p.Ser478ValfsTer?
ENST00000382321.5:c.804-4343del	ENSP00000371758.4:n.804-4343del
ENST00000406569.7:n.1431del
ENST00000441476.6:c.1113del	ENSP00000392843.2:p.Ser372ValfsTer?
ENST00000469652.1:n.63-4429del
NM_000535.5:c.1431del , LRG_161t1:c.1431del	NP_000526.1:p.Ser478ValfsTer?
NR_003085.2:n.1513del
XM_006715742.2:c.1425del	XP_006715805.1:p.Ser476ValfsTer?
XM_006715744.2:c.498del	XP_006715807.1:p.Ser167ValfsTer?
XM_011515427.1:c.1476del	XP_011513729.1:p.Ser493ValfsTer?
XM_011515428.1:c.1320del	XP_011513730.1:p.Ser441ValfsTer?
XM_011515429.1:c.1113del	XP_011513731.1:p.Ser372ValfsTer?
XM_011515430.1:c.1113del	XP_011513732.1:p.Ser372ValfsTer?
NM_000535.6:c.1431del	NP_000526.2:p.Ser478ValfsTer?
NM_001322003.1:c.1026del	NP_001308932.1:p.Ser343ValfsTer?
NM_001322004.1:c.1026del	NP_001308933.1:p.Ser343ValfsTer?
NM_001322005.1:c.1026del	NP_001308934.1:p.Ser343ValfsTer?
NM_001322006.1:c.1275del	NP_001308935.1:p.Ser426ValfsTer?
NM_001322007.1:c.1113del	NP_001308936.1:p.Ser372ValfsTer?
NM_001322008.1:c.1113del	NP_001308937.1:p.Ser372ValfsTer?
NM_001322009.1:c.1026del	NP_001308938.1:p.Ser343ValfsTer?
NM_001322010.1:c.870del	NP_001308939.1:p.Ser291ValfsTer?
NM_001322011.1:c.498del	NP_001308940.1:p.Ser167ValfsTer?
NM_001322012.1:c.498del	NP_001308941.1:p.Ser167ValfsTer?
NM_001322013.1:c.858del	NP_001308942.1:p.Ser287ValfsTer?
NM_001322014.1:c.1431del	NP_001308943.1:p.Ser478ValfsTer?
NM_001322015.1:c.1122del	NP_001308944.1:p.Ser375ValfsTer?
NR_136154.1:n.1518del
XM_006715744.4:c.498del	XP_006715807.1:p.Ser167ValfsTer?
XM_017012342.2:c.498del	XP_016867831.1:p.Ser167ValfsTer?
XM_024446800.1:c.870del	XP_024302568.1:p.Ser291ValfsTer?
NM_000535.7:c.1431del MANE Select	NP_000526.2:p.Ser478ValfsTer?
NM_001322003.2:c.1026del	NP_001308932.1:p.Ser343ValfsTer?
NM_001322004.2:c.1026del	NP_001308933.1:p.Ser343ValfsTer?
NM_001322005.2:c.1026del	NP_001308934.1:p.Ser343ValfsTer?
NM_001322006.2:c.1275del	NP_001308935.1:p.Ser426ValfsTer?
NM_001322008.2:c.1113del	NP_001308937.1:p.Ser372ValfsTer?
NM_001322009.2:c.1026del	NP_001308938.1:p.Ser343ValfsTer?
NM_001322010.2:c.870del	NP_001308939.1:p.Ser291ValfsTer?
NM_001322011.2:c.498del	NP_001308940.1:p.Ser167ValfsTer?
NM_001322012.2:c.498del	NP_001308941.1:p.Ser167ValfsTer?
NM_001322013.2:c.858del	NP_001308942.1:p.Ser287ValfsTer?
NM_001322014.2:c.1431del	NP_001308943.1:p.Ser478ValfsTer?
NM_001322015.2:c.1122del	NP_001308944.1:p.Ser375ValfsTer?
NM_001322007.2:c.1113del	NP_001308936.1:p.Ser372ValfsTer?