Canonical Allele Identifier: CA1685225617

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986794_5986795delinsAT , CM000669.2:g.5986794_5986795delinsAT	GRCh38
NC_000007.13:g.6026425_6026426delinsAT , CM000669.1:g.6026425_6026426delinsAT	GRCh37
NC_000007.12:g.5992951_5992952delinsAT	NCBI36
NG_008466.1:g.27312_27313delinsAT , LRG_161:g.27312_27313delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1366_*1367delinsAT	ENSP00000514615.2:n.*1366_*1367delinsAT
ENST00000699840.2:c.1967_1968delinsAT	ENSP00000514638.2:p.Asn656=
ENST00000699930.2:c.1862_1863delinsAT	ENSP00000514695.2:p.Asn621=
ENST00000406569.8:c.1678+292_1678+293delinsAT	ENSP00000514464.1:n.1678+292_1678+293delinsAT
ENST00000644110.2:c.*1564_*1565delinsAT	ENSP00000496392.2:n.*1564_*1565delinsAT
ENST00000699752.1:c.1814_1815delinsAT	ENSP00000514561.1:p.Asn605=
ENST00000699753.1:c.*1391_*1392delinsAT	ENSP00000514562.1:n.*1391_*1392delinsAT
ENST00000699754.1:c.1772_1773delinsAT	ENSP00000514563.1:p.Asn591=
ENST00000699755.1:c.*1369_*1370delinsAT	ENSP00000514564.1:n.*1369_*1370delinsAT
ENST00000699756.1:c.*1557_*1558delinsAT	ENSP00000514565.1:n.*1557_*1558delinsAT
ENST00000699757.1:c.*1227_*1228delinsAT	ENSP00000514566.1:n.*1227_*1228delinsAT
ENST00000699758.1:c.*1227_*1228delinsAT	ENSP00000514567.1:n.*1227_*1228delinsAT
ENST00000699759.1:n.2824_2825delinsAT
ENST00000699760.1:c.1652_1653delinsAT	ENSP00000514568.1:p.Asn551=
ENST00000699761.1:c.1565_1566delinsAT	ENSP00000514569.1:p.Asn522=
ENST00000699762.1:c.1397_1398delinsAT	ENSP00000514570.1:p.Asn466=
ENST00000699763.1:c.*1060_*1061delinsAT	ENSP00000514571.1:n.*1060_*1061delinsAT
ENST00000699764.1:c.*288_*289delinsAT	ENSP00000514572.1:n.*288_*289delinsAT
ENST00000699765.1:c.*1066_*1067delinsAT	ENSP00000514573.1:n.*1066_*1067delinsAT
ENST00000699766.1:c.1970_1971delinsAT	ENSP00000514574.1:p.Asn657=
ENST00000699767.1:c.1970_1971delinsAT	ENSP00000514575.1:p.Asn657=
ENST00000699768.1:c.1970_1971delinsAT	ENSP00000514576.1:p.Asn657=
ENST00000699811.1:c.1565_1566delinsAT	ENSP00000514614.1:p.Asn522=
ENST00000699813.1:n.2083_2084delinsAT
ENST00000699814.1:c.1593_1594delinsAT
ENST00000699815.1:c.*1501_*1502delinsAT	ENSP00000514616.1:n.*1501_*1502delinsAT
ENST00000699816.1:c.*860_*861delinsAT	ENSP00000514617.1:n.*860_*861delinsAT
ENST00000699817.1:c.*1564_*1565delinsAT	ENSP00000514618.1:n.*1564_*1565delinsAT
ENST00000699818.1:c.1565_1566delinsAT	ENSP00000514619.1:p.Asn522=
ENST00000699819.1:c.*1127_*1128delinsAT	ENSP00000514620.1:n.*1127_*1128delinsAT
ENST00000699820.1:c.1144+3005_1144+3006delinsAT	ENSP00000514621.1:n.1144+3005_1144+3006delinsAT
ENST00000699821.1:c.1565_1566delinsAT	ENSP00000514622.1:p.Asn522=
ENST00000699822.1:c.*1422_*1423delinsAT	ENSP00000514623.1:n.*1422_*1423delinsAT
ENST00000699823.1:c.1565_1566delinsAT	ENSP00000514624.1:p.Asn522=
ENST00000699824.1:c.*1473_*1474delinsAT	ENSP00000514625.1:n.*1473_*1474delinsAT
ENST00000699825.1:c.1409_1410delinsAT	ENSP00000514626.1:p.Asn470=
ENST00000699826.1:c.*1369_*1370delinsAT	ENSP00000514627.1:n.*1369_*1370delinsAT
ENST00000699827.1:c.1802_1803delinsAT	ENSP00000514628.1:p.Asn601=
ENST00000699828.1:c.*1060_*1061delinsAT	ENSP00000514629.1:n.*1060_*1061delinsAT
ENST00000699833.1:n.3742_3743delinsAT
ENST00000699837.1:c.1565_1566delinsAT	ENSP00000514635.1:p.Asn522=
ENST00000699838.1:c.*1870_*1871delinsAT	ENSP00000514636.1:n.*1870_*1871delinsAT
ENST00000699839.1:c.2156_2157delinsAT	ENSP00000514637.1:p.Asn719=
ENST00000699916.1:c.*1227_*1228delinsAT	ENSP00000514684.1:n.*1227_*1228delinsAT
ENST00000699917.1:c.*1419_*1420delinsAT	ENSP00000514685.1:n.*1419_*1420delinsAT
ENST00000699918.1:c.*1471_*1472delinsAT	ENSP00000514686.1:n.*1471_*1472delinsAT
ENST00000699919.1:c.*1557_*1558delinsAT	ENSP00000514687.1:n.*1557_*1558delinsAT
ENST00000699920.1:c.*1606_*1607delinsAT	ENSP00000514688.1:n.*1606_*1607delinsAT
ENST00000699928.1:c.989-3804_989-3803delinsAT	ENSP00000514693.1:n.989-3804_989-3803delinsAT
ENST00000699951.1:c.*1066_*1067delinsAT	ENSP00000514706.1:n.*1066_*1067delinsAT
ENST00000699952.1:c.803+10531_803+10532delinsAT	ENSP00000514707.1:n.803+10531_803+10532delinsAT
ENST00000265849.12:c.1970_1971delinsAT MANE Select	ENSP00000265849.7:p.Asn657=
ENST00000642292.1:c.1565_1566delinsAT	ENSP00000495524.1:p.Asn522=
ENST00000642456.1:c.1565_1566delinsAT	ENSP00000493814.1:p.Asn522=
ENST00000643595.1:c.*1369_*1370delinsAT	ENSP00000494497.1:n.*1369_*1370delinsAT
ENST00000644110.1:c.1652_1653delinsAT	ENSP00000496392.1:p.Asn551=
ENST00000265849.11:c.1970_1971delinsAT	ENSP00000265849.7:p.Asn657=
ENST00000382321.5:c.804-3804_804-3803delinsAT	ENSP00000371758.4:n.804-3804_804-3803delinsAT
ENST00000406569.7:n.1678+292_1678+293delinsAT
ENST00000441476.6:c.1652_1653delinsAT	ENSP00000392843.2:p.Asn551=
ENST00000469652.1:n.63-3890_63-3889delinsAT
NM_000535.5:c.1970_1971delinsAT , LRG_161t1:c.1970_1971delinsAT	NP_000526.1:p.Asn657=
NR_003085.2:n.2052_2053delinsAT
XM_006715742.2:c.1964_1965delinsAT	XP_006715805.1:p.Asn655=
XM_006715744.2:c.1037_1038delinsAT	XP_006715807.1:p.Asn346=
XM_011515427.1:c.2015_2016delinsAT	XP_011513729.1:p.Asn672=
XM_011515428.1:c.1859_1860delinsAT	XP_011513730.1:p.Asn620=
XM_011515429.1:c.1652_1653delinsAT	XP_011513731.1:p.Asn551=
XM_011515430.1:c.1652_1653delinsAT	XP_011513732.1:p.Asn551=
NM_000535.6:c.1970_1971delinsAT	NP_000526.2:p.Asn657=
NM_001322003.1:c.1565_1566delinsAT	NP_001308932.1:p.Asn522=
NM_001322004.1:c.1565_1566delinsAT	NP_001308933.1:p.Asn522=
NM_001322005.1:c.1565_1566delinsAT	NP_001308934.1:p.Asn522=
NM_001322006.1:c.1814_1815delinsAT	NP_001308935.1:p.Asn605=
NM_001322007.1:c.1652_1653delinsAT	NP_001308936.1:p.Asn551=
NM_001322008.1:c.1652_1653delinsAT	NP_001308937.1:p.Asn551=
NM_001322009.1:c.1565_1566delinsAT	NP_001308938.1:p.Asn522=
NM_001322010.1:c.1409_1410delinsAT	NP_001308939.1:p.Asn470=
NM_001322011.1:c.1037_1038delinsAT	NP_001308940.1:p.Asn346=
NM_001322012.1:c.1037_1038delinsAT	NP_001308941.1:p.Asn346=
NM_001322013.1:c.1397_1398delinsAT	NP_001308942.1:p.Asn466=
NM_001322014.1:c.1970_1971delinsAT	NP_001308943.1:p.Asn657=
NM_001322015.1:c.1661_1662delinsAT	NP_001308944.1:p.Asn554=
NR_136154.1:n.2057_2058delinsAT
XM_006715744.4:c.1037_1038delinsAT	XP_006715807.1:p.Asn346=
XM_017012342.2:c.1037_1038delinsAT	XP_016867831.1:p.Asn346=
XM_024446800.1:c.1409_1410delinsAT	XP_024302568.1:p.Asn470=
NM_000535.7:c.1970_1971delinsAT MANE Select	NP_000526.2:p.Asn657=
NM_001322003.2:c.1565_1566delinsAT	NP_001308932.1:p.Asn522=
NM_001322004.2:c.1565_1566delinsAT	NP_001308933.1:p.Asn522=
NM_001322005.2:c.1565_1566delinsAT	NP_001308934.1:p.Asn522=
NM_001322006.2:c.1814_1815delinsAT	NP_001308935.1:p.Asn605=
NM_001322008.2:c.1652_1653delinsAT	NP_001308937.1:p.Asn551=
NM_001322009.2:c.1565_1566delinsAT	NP_001308938.1:p.Asn522=
NM_001322010.2:c.1409_1410delinsAT	NP_001308939.1:p.Asn470=
NM_001322011.2:c.1037_1038delinsAT	NP_001308940.1:p.Asn346=
NM_001322012.2:c.1037_1038delinsAT	NP_001308941.1:p.Asn346=
NM_001322013.2:c.1397_1398delinsAT	NP_001308942.1:p.Asn466=
NM_001322014.2:c.1970_1971delinsAT	NP_001308943.1:p.Asn657=
NM_001322015.2:c.1661_1662delinsAT	NP_001308944.1:p.Asn554=
NM_001322007.2:c.1652_1653delinsAT	NP_001308936.1:p.Asn551=