Canonical Allele Identifier: CA2580076896

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1778480
• ClinVar RCV Id: RCV002398819 ; RCV003454276

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987058delinsTT , CM000669.2:g.5987058delinsTT	GRCh38
NC_000007.13:g.6026689delinsTT , CM000669.1:g.6026689delinsTT	GRCh37
NC_000007.12:g.5993215delinsTT	NCBI36
NG_008466.1:g.27049delinsAA , LRG_161:g.27049delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1103delinsAA	ENSP00000514615.2:n.*1103delinsAA
ENST00000699840.2:c.1704delinsAA	ENSP00000514638.2:p.Asn569LysfsTer11
ENST00000699930.2:c.1599delinsAA	ENSP00000514695.2:p.Asn534LysfsTer11
ENST00000406569.8:c.1678+29delinsAA	ENSP00000514464.1:n.1678+29delinsAA
ENST00000644110.2:c.*1301delinsAA	ENSP00000496392.2:n.*1301delinsAA
ENST00000699752.1:c.1551delinsAA	ENSP00000514561.1:p.Asn518LysfsTer11
ENST00000699753.1:c.*1128delinsAA	ENSP00000514562.1:n.*1128delinsAA
ENST00000699754.1:c.1509delinsAA	ENSP00000514563.1:p.Asn504LysfsTer11
ENST00000699755.1:c.*1106delinsAA	ENSP00000514564.1:n.*1106delinsAA
ENST00000699756.1:c.*1294delinsAA	ENSP00000514565.1:n.*1294delinsAA
ENST00000699757.1:c.*964delinsAA	ENSP00000514566.1:n.*964delinsAA
ENST00000699758.1:c.*964delinsAA	ENSP00000514567.1:n.*964delinsAA
ENST00000699759.1:n.2561delinsAA
ENST00000699760.1:c.1389delinsAA	ENSP00000514568.1:p.Asn464LysfsTer11
ENST00000699761.1:c.1302delinsAA	ENSP00000514569.1:p.Asn435LysfsTer11
ENST00000699762.1:c.1134delinsAA	ENSP00000514570.1:p.Asn379LysfsTer11
ENST00000699763.1:c.*797delinsAA	ENSP00000514571.1:n.*797delinsAA
ENST00000699764.1:c.*25delinsAA	ENSP00000514572.1:n.*25delinsAA
ENST00000699765.1:c.*803delinsAA	ENSP00000514573.1:n.*803delinsAA
ENST00000699766.1:c.1707delinsAA	ENSP00000514574.1:p.Asn570LysfsTer11
ENST00000699767.1:c.1707delinsAA	ENSP00000514575.1:p.Asn570LysfsTer11
ENST00000699768.1:c.1707delinsAA	ENSP00000514576.1:p.Asn570LysfsTer11
ENST00000699811.1:c.1302delinsAA	ENSP00000514614.1:p.Asn435LysfsTer11
ENST00000699813.1:n.1820delinsAA
ENST00000699814.1:c.1330delinsAA
ENST00000699815.1:c.*1238delinsAA	ENSP00000514616.1:n.*1238delinsAA
ENST00000699816.1:c.*597delinsAA	ENSP00000514617.1:n.*597delinsAA
ENST00000699817.1:c.*1301delinsAA	ENSP00000514618.1:n.*1301delinsAA
ENST00000699818.1:c.1302delinsAA	ENSP00000514619.1:p.Asn435LysfsTer11
ENST00000699819.1:c.*864delinsAA	ENSP00000514620.1:n.*864delinsAA
ENST00000699820.1:c.1144+2742delinsAA	ENSP00000514621.1:n.1144+2742delinsAA
ENST00000699821.1:c.1302delinsAA	ENSP00000514622.1:p.Asn435LysfsTer11
ENST00000699822.1:c.*1159delinsAA	ENSP00000514623.1:n.*1159delinsAA
ENST00000699823.1:c.1302delinsAA	ENSP00000514624.1:p.Asn435LysfsTer11
ENST00000699824.1:c.*1210delinsAA	ENSP00000514625.1:n.*1210delinsAA
ENST00000699825.1:c.1146delinsAA	ENSP00000514626.1:p.Asn383LysfsTer11
ENST00000699826.1:c.*1106delinsAA	ENSP00000514627.1:n.*1106delinsAA
ENST00000699827.1:c.1539delinsAA	ENSP00000514628.1:p.Asn514LysfsTer11
ENST00000699828.1:c.*797delinsAA	ENSP00000514629.1:n.*797delinsAA
ENST00000699833.1:n.3479delinsAA
ENST00000699837.1:c.1302delinsAA	ENSP00000514635.1:p.Asn435LysfsTer11
ENST00000699838.1:c.*1607delinsAA	ENSP00000514636.1:n.*1607delinsAA
ENST00000699839.1:c.1893delinsAA	ENSP00000514637.1:p.Asn632LysfsTer11
ENST00000699916.1:c.*964delinsAA	ENSP00000514684.1:n.*964delinsAA
ENST00000699917.1:c.*1156delinsAA	ENSP00000514685.1:n.*1156delinsAA
ENST00000699918.1:c.*1208delinsAA	ENSP00000514686.1:n.*1208delinsAA
ENST00000699919.1:c.*1294delinsAA	ENSP00000514687.1:n.*1294delinsAA
ENST00000699920.1:c.*1343delinsAA	ENSP00000514688.1:n.*1343delinsAA
ENST00000699928.1:c.989-4067delinsAA	ENSP00000514693.1:n.989-4067delinsAA
ENST00000699929.1:c.*1008delinsAA	ENSP00000514694.1:n.*1008delinsAA
ENST00000699930.1:c.1599delinsAA	ENSP00000514695.1:p.Asn534LysfsTer11
ENST00000699931.1:n.3135delinsAA
ENST00000699951.1:c.*803delinsAA	ENSP00000514706.1:n.*803delinsAA
ENST00000699952.1:c.803+10268delinsAA	ENSP00000514707.1:n.803+10268delinsAA
ENST00000699953.1:c.*814delinsAA	ENSP00000514708.1:n.*814delinsAA
ENST00000699954.1:c.*1008delinsAA	ENSP00000514709.1:n.*1008delinsAA
ENST00000265849.12:c.1707delinsAA MANE Select	ENSP00000265849.7:p.Asn570LysfsTer11
ENST00000642292.1:c.1302delinsAA	ENSP00000495524.1:p.Asn435LysfsTer11
ENST00000642456.1:c.1302delinsAA	ENSP00000493814.1:p.Asn435LysfsTer11
ENST00000643595.1:c.*1106delinsAA	ENSP00000494497.1:n.*1106delinsAA
ENST00000644110.1:c.1389delinsAA	ENSP00000496392.1:p.Asn464LysfsTer11
ENST00000265849.11:c.1707delinsAA	ENSP00000265849.7:p.Asn570LysfsTer11
ENST00000382321.5:c.804-4067delinsAA	ENSP00000371758.4:n.804-4067delinsAA
ENST00000406569.7:n.1678+29delinsAA
ENST00000441476.6:c.1389delinsAA	ENSP00000392843.2:p.Asn464LysfsTer11
ENST00000469652.1:n.63-4153delinsAA
NM_000535.5:c.1707delinsAA , LRG_161t1:c.1707delinsAA	NP_000526.1:p.Asn570LysfsTer11
NR_003085.2:n.1789delinsAA
XM_006715742.2:c.1701delinsAA	XP_006715805.1:p.Asn568LysfsTer11
XM_006715744.2:c.774delinsAA	XP_006715807.1:p.Asn259LysfsTer11
XM_011515427.1:c.1752delinsAA	XP_011513729.1:p.Asn585LysfsTer11
XM_011515428.1:c.1596delinsAA	XP_011513730.1:p.Asn533LysfsTer11
XM_011515429.1:c.1389delinsAA	XP_011513731.1:p.Asn464LysfsTer11
XM_011515430.1:c.1389delinsAA	XP_011513732.1:p.Asn464LysfsTer11
NM_000535.6:c.1707delinsAA	NP_000526.2:p.Asn570LysfsTer11
NM_001322003.1:c.1302delinsAA	NP_001308932.1:p.Asn435LysfsTer11
NM_001322004.1:c.1302delinsAA	NP_001308933.1:p.Asn435LysfsTer11
NM_001322005.1:c.1302delinsAA	NP_001308934.1:p.Asn435LysfsTer11
NM_001322006.1:c.1551delinsAA	NP_001308935.1:p.Asn518LysfsTer11
NM_001322007.1:c.1389delinsAA	NP_001308936.1:p.Asn464LysfsTer11
NM_001322008.1:c.1389delinsAA	NP_001308937.1:p.Asn464LysfsTer11
NM_001322009.1:c.1302delinsAA	NP_001308938.1:p.Asn435LysfsTer11
NM_001322010.1:c.1146delinsAA	NP_001308939.1:p.Asn383LysfsTer11
NM_001322011.1:c.774delinsAA	NP_001308940.1:p.Asn259LysfsTer11
NM_001322012.1:c.774delinsAA	NP_001308941.1:p.Asn259LysfsTer11
NM_001322013.1:c.1134delinsAA	NP_001308942.1:p.Asn379LysfsTer11
NM_001322014.1:c.1707delinsAA	NP_001308943.1:p.Asn570LysfsTer11
NM_001322015.1:c.1398delinsAA	NP_001308944.1:p.Asn467LysfsTer11
NR_136154.1:n.1794delinsAA
XM_006715744.4:c.774delinsAA	XP_006715807.1:p.Asn259LysfsTer11
XM_017012342.2:c.774delinsAA	XP_016867831.1:p.Asn259LysfsTer11
XM_024446800.1:c.1146delinsAA	XP_024302568.1:p.Asn383LysfsTer11
NM_000535.7:c.1707delinsAA MANE Select	NP_000526.2:p.Asn570LysfsTer11
NM_001322003.2:c.1302delinsAA	NP_001308932.1:p.Asn435LysfsTer11
NM_001322004.2:c.1302delinsAA	NP_001308933.1:p.Asn435LysfsTer11
NM_001322005.2:c.1302delinsAA	NP_001308934.1:p.Asn435LysfsTer11
NM_001322006.2:c.1551delinsAA	NP_001308935.1:p.Asn518LysfsTer11
NM_001322008.2:c.1389delinsAA	NP_001308937.1:p.Asn464LysfsTer11
NM_001322009.2:c.1302delinsAA	NP_001308938.1:p.Asn435LysfsTer11
NM_001322010.2:c.1146delinsAA	NP_001308939.1:p.Asn383LysfsTer11
NM_001322011.2:c.774delinsAA	NP_001308940.1:p.Asn259LysfsTer11
NM_001322012.2:c.774delinsAA	NP_001308941.1:p.Asn259LysfsTer11
NM_001322013.2:c.1134delinsAA	NP_001308942.1:p.Asn379LysfsTer11
NM_001322014.2:c.1707delinsAA	NP_001308943.1:p.Asn570LysfsTer11
NM_001322015.2:c.1398delinsAA	NP_001308944.1:p.Asn467LysfsTer11
NM_001322007.2:c.1389delinsAA	NP_001308936.1:p.Asn464LysfsTer11