Canonical Allele Identifier: CA1685217233
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982855_5982870delinsGCTGCTGCAGCATCTC , CM000669.2:g.5982855_5982870delinsGCTGCTGCAGCATCTC GRCh38
NC_000007.13:g.6022486_6022501delinsGCTGCTGCAGCATCTC , CM000669.1:g.6022486_6022501delinsGCTGCTGCAGCATCTC GRCh37
NC_000007.12:g.5989012_5989027delinsGCTGCTGCAGCATCTC NCBI36
NG_008466.1:g.31237_31252delinsGAGATGCTGCAGCAGC , LRG_161:g.31237_31252delinsGAGATGCTGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1524_*1539delinsGAGATGCTGCAGCAGC ENSP00000514615.2:n.*1524_*1539delinsGAGATGCTGCAGCAGC
ENST00000699840.2:c.2125_2140delinsGAGATGCTGCAGCAGC ENSP00000514638.2:p.Glu709=
ENST00000699930.2:c.2020_2035delinsGAGATGCTGCAGCAGC ENSP00000514695.2:p.Glu674=
ENST00000406569.8:c.1678+4217_1678+4232delinsGAGATGCTGCAGCAGC ENSP00000514464.1:n.1678+4217_1678+4232delinsGAGATGCTGCAGCAGC...
ENST00000644110.2:c.*1722_*1737delinsGAGATGCTGCAGCAGC ENSP00000496392.2:n.*1722_*1737delinsGAGATGCTGCAGCAGC
ENST00000699752.1:c.1972_1987delinsGAGATGCTGCAGCAGC ENSP00000514561.1:p.Glu658=
ENST00000699753.1:c.*1549_*1564delinsGAGATGCTGCAGCAGC ENSP00000514562.1:n.*1549_*1564delinsGAGATGCTGCAGCAGC
ENST00000699754.1:c.1930_1945delinsGAGATGCTGCAGCAGC ENSP00000514563.1:p.Glu644=
ENST00000699755.1:c.*1527_*1542delinsGAGATGCTGCAGCAGC ENSP00000514564.1:n.*1527_*1542delinsGAGATGCTGCAGCAGC
ENST00000699756.1:c.*1715_*1730delinsGAGATGCTGCAGCAGC ENSP00000514565.1:n.*1715_*1730delinsGAGATGCTGCAGCAGC
ENST00000699757.1:c.*1385_*1400delinsGAGATGCTGCAGCAGC ENSP00000514566.1:n.*1385_*1400delinsGAGATGCTGCAGCAGC
ENST00000699758.1:c.*1385_*1400delinsGAGATGCTGCAGCAGC ENSP00000514567.1:n.*1385_*1400delinsGAGATGCTGCAGCAGC
ENST00000699759.1:n.2982_2997delinsGAGATGCTGCAGCAGC
ENST00000699760.1:c.1810_1825delinsGAGATGCTGCAGCAGC ENSP00000514568.1:p.Glu604=
ENST00000699761.1:c.1723_1738delinsGAGATGCTGCAGCAGC ENSP00000514569.1:p.Glu575=
ENST00000699762.1:c.1555_1570delinsGAGATGCTGCAGCAGC ENSP00000514570.1:p.Glu519=
ENST00000699763.1:c.*1218_*1233delinsGAGATGCTGCAGCAGC ENSP00000514571.1:n.*1218_*1233delinsGAGATGCTGCAGCAGC
ENST00000699764.1:c.*446_*461delinsGAGATGCTGCAGCAGC ENSP00000514572.1:n.*446_*461delinsGAGATGCTGCAGCAGC
ENST00000699765.1:c.*1224_*1239delinsGAGATGCTGCAGCAGC ENSP00000514573.1:n.*1224_*1239delinsGAGATGCTGCAGCAGC
ENST00000699766.1:c.2128_2143delinsGAGATGCTGCAGCAGC ENSP00000514574.1:p.Glu710=
ENST00000699767.1:c.2128_2143delinsGAGATGCTGCAGCAGC ENSP00000514575.1:p.Glu710=
ENST00000699768.1:c.2128_2143delinsGAGATGCTGCAGCAGC ENSP00000514576.1:p.Glu710=
ENST00000699811.1:c.1723_1738delinsGAGATGCTGCAGCAGC ENSP00000514614.1:p.Glu575=
ENST00000699813.1:n.2241_2256delinsGAGATGCTGCAGCAGC
ENST00000699814.1:c.1751_1766delinsGAGATGCTGCAGCAGC
ENST00000699815.1:c.*1659_*1674delinsGAGATGCTGCAGCAGC ENSP00000514616.1:n.*1659_*1674delinsGAGATGCTGCAGCAGC
ENST00000699816.1:c.*1018_*1033delinsGAGATGCTGCAGCAGC ENSP00000514617.1:n.*1018_*1033delinsGAGATGCTGCAGCAGC
ENST00000699817.1:c.*1722_*1737delinsGAGATGCTGCAGCAGC ENSP00000514618.1:n.*1722_*1737delinsGAGATGCTGCAGCAGC
ENST00000699818.1:c.1723_1738delinsGAGATGCTGCAGCAGC ENSP00000514619.1:p.Glu575=
ENST00000699819.1:c.*1285_*1300delinsGAGATGCTGCAGCAGC ENSP00000514620.1:n.*1285_*1300delinsGAGATGCTGCAGCAGC
ENST00000699820.1:c.*66_*81delinsGAGATGCTGCAGCAGC ENSP00000514621.1:n.*66_*81delinsGAGATGCTGCAGCAGC
ENST00000699821.1:c.1723_1738delinsGAGATGCTGCAGCAGC ENSP00000514622.1:p.Glu575=
ENST00000699822.1:c.*1580_*1595delinsGAGATGCTGCAGCAGC ENSP00000514623.1:n.*1580_*1595delinsGAGATGCTGCAGCAGC
ENST00000699823.1:c.1723_1738delinsGAGATGCTGCAGCAGC ENSP00000514624.1:p.Glu575=
ENST00000699824.1:c.*1631_*1646delinsGAGATGCTGCAGCAGC ENSP00000514625.1:n.*1631_*1646delinsGAGATGCTGCAGCAGC
ENST00000699825.1:c.1567_1582delinsGAGATGCTGCAGCAGC ENSP00000514626.1:p.Glu523=
ENST00000699826.1:c.*1527_*1542delinsGAGATGCTGCAGCAGC ENSP00000514627.1:n.*1527_*1542delinsGAGATGCTGCAGCAGC
ENST00000699827.1:c.1960_1975delinsGAGATGCTGCAGCAGC ENSP00000514628.1:p.Glu654=
ENST00000699828.1:c.*1218_*1233delinsGAGATGCTGCAGCAGC ENSP00000514629.1:n.*1218_*1233delinsGAGATGCTGCAGCAGC
ENST00000699833.1:n.3900_3915delinsGAGATGCTGCAGCAGC
ENST00000699837.1:c.1723_1738delinsGAGATGCTGCAGCAGC ENSP00000514635.1:p.Glu575=
ENST00000699838.1:c.*2028_*2043delinsGAGATGCTGCAGCAGC ENSP00000514636.1:n.*2028_*2043delinsGAGATGCTGCAGCAGC
ENST00000699839.1:c.2314_2329delinsGAGATGCTGCAGCAGC ENSP00000514637.1:p.Glu772=
ENST00000699916.1:c.*1385_*1400delinsGAGATGCTGCAGCAGC ENSP00000514684.1:n.*1385_*1400delinsGAGATGCTGCAGCAGC
ENST00000699917.1:c.*1577_*1592delinsGAGATGCTGCAGCAGC ENSP00000514685.1:n.*1577_*1592delinsGAGATGCTGCAGCAGC
ENST00000699918.1:c.*1629_*1644delinsGAGATGCTGCAGCAGC ENSP00000514686.1:n.*1629_*1644delinsGAGATGCTGCAGCAGC
ENST00000699919.1:c.*1715_*1730delinsGAGATGCTGCAGCAGC ENSP00000514687.1:n.*1715_*1730delinsGAGATGCTGCAGCAGC
ENST00000699920.1:c.*1764_*1779delinsGAGATGCTGCAGCAGC ENSP00000514688.1:n.*1764_*1779delinsGAGATGCTGCAGCAGC
ENST00000699928.1:c.*66_*81delinsGAGATGCTGCAGCAGC ENSP00000514693.1:n.*66_*81delinsGAGATGCTGCAGCAGC
ENST00000699951.1:c.*1224_*1239delinsGAGATGCTGCAGCAGC ENSP00000514706.1:n.*1224_*1239delinsGAGATGCTGCAGCAGC
ENST00000699952.1:c.804-9328_804-9313delinsGAGATGCTGCAGCAGC ENSP00000514707.1:n.804-9328_804-9313delinsGAGATGCTGCAGCAGC
ENST00000265849.12:c.2128_2143delinsGAGATGCTGCAGCAGC MANE Select ENSP00000265849.7:p.Glu710=
ENST00000642292.1:c.1723_1738delinsGAGATGCTGCAGCAGC ENSP00000495524.1:p.Glu575=
ENST00000642456.1:c.1723_1738delinsGAGATGCTGCAGCAGC ENSP00000493814.1:p.Glu575=
ENST00000643595.1:c.*1527_*1542delinsGAGATGCTGCAGCAGC ENSP00000494497.1:n.*1527_*1542delinsGAGATGCTGCAGCAGC
ENST00000644110.1:c.1810_1825delinsGAGATGCTGCAGCAGC ENSP00000496392.1:p.Glu604=
ENST00000265849.11:c.2128_2143delinsGAGATGCTGCAGCAGC ENSP00000265849.7:p.Glu710=
ENST00000382321.5:c.925_940delinsGAGATGCTGCAGCAGC ENSP00000371758.4:p.Glu309=
ENST00000406569.7:n.1678+4217_1678+4232delinsGAGATGCTGCAGCAGC
ENST00000441476.6:c.1810_1825delinsGAGATGCTGCAGCAGC ENSP00000392843.2:p.Glu604=
NM_000535.5:c.2128_2143delinsGAGATGCTGCAGCAGC , LRG_161t1:c.2128_2143delinsGAGATGCTGCAGCAGC NP_000526.1:p.Glu710=
NR_003085.2:n.2210_2225delinsGAGATGCTGCAGCAGC
XM_006715742.2:c.2122_2137delinsGAGATGCTGCAGCAGC XP_006715805.1:p.Glu708=
XM_006715744.2:c.1195_1210delinsGAGATGCTGCAGCAGC XP_006715807.1:p.Glu399=
XM_011515427.1:c.2173_2188delinsGAGATGCTGCAGCAGC XP_011513729.1:p.Glu725=
XM_011515428.1:c.2017_2032delinsGAGATGCTGCAGCAGC XP_011513730.1:p.Glu673=
XM_011515429.1:c.1810_1825delinsGAGATGCTGCAGCAGC XP_011513731.1:p.Glu604=
XM_011515430.1:c.1810_1825delinsGAGATGCTGCAGCAGC XP_011513732.1:p.Glu604=
NM_000535.6:c.2128_2143delinsGAGATGCTGCAGCAGC NP_000526.2:p.Glu710=
NM_001322003.1:c.1723_1738delinsGAGATGCTGCAGCAGC NP_001308932.1:p.Glu575=
NM_001322004.1:c.1723_1738delinsGAGATGCTGCAGCAGC NP_001308933.1:p.Glu575=
NM_001322005.1:c.1723_1738delinsGAGATGCTGCAGCAGC NP_001308934.1:p.Glu575=
NM_001322006.1:c.1972_1987delinsGAGATGCTGCAGCAGC NP_001308935.1:p.Glu658=
NM_001322007.1:c.1810_1825delinsGAGATGCTGCAGCAGC NP_001308936.1:p.Glu604=
NM_001322008.1:c.1810_1825delinsGAGATGCTGCAGCAGC NP_001308937.1:p.Glu604=
NM_001322009.1:c.1723_1738delinsGAGATGCTGCAGCAGC NP_001308938.1:p.Glu575=
NM_001322010.1:c.1567_1582delinsGAGATGCTGCAGCAGC NP_001308939.1:p.Glu523=
NM_001322011.1:c.1195_1210delinsGAGATGCTGCAGCAGC NP_001308940.1:p.Glu399=
NM_001322012.1:c.1195_1210delinsGAGATGCTGCAGCAGC NP_001308941.1:p.Glu399=
NM_001322013.1:c.1555_1570delinsGAGATGCTGCAGCAGC NP_001308942.1:p.Glu519=
NM_001322014.1:c.2128_2143delinsGAGATGCTGCAGCAGC NP_001308943.1:p.Glu710=
NM_001322015.1:c.1819_1834delinsGAGATGCTGCAGCAGC NP_001308944.1:p.Glu607=
NR_136154.1:n.2215_2230delinsGAGATGCTGCAGCAGC
XM_006715744.4:c.1195_1210delinsGAGATGCTGCAGCAGC XP_006715807.1:p.Glu399=
XM_017012342.2:c.1195_1210delinsGAGATGCTGCAGCAGC XP_016867831.1:p.Glu399=
XM_024446800.1:c.1567_1582delinsGAGATGCTGCAGCAGC XP_024302568.1:p.Glu523=
NM_000535.7:c.2128_2143delinsGAGATGCTGCAGCAGC MANE Select NP_000526.2:p.Glu710=
NM_001322003.2:c.1723_1738delinsGAGATGCTGCAGCAGC NP_001308932.1:p.Glu575=
NM_001322004.2:c.1723_1738delinsGAGATGCTGCAGCAGC NP_001308933.1:p.Glu575=
NM_001322005.2:c.1723_1738delinsGAGATGCTGCAGCAGC NP_001308934.1:p.Glu575=
NM_001322006.2:c.1972_1987delinsGAGATGCTGCAGCAGC NP_001308935.1:p.Glu658=
NM_001322008.2:c.1810_1825delinsGAGATGCTGCAGCAGC NP_001308937.1:p.Glu604=
NM_001322009.2:c.1723_1738delinsGAGATGCTGCAGCAGC NP_001308938.1:p.Glu575=
NM_001322010.2:c.1567_1582delinsGAGATGCTGCAGCAGC NP_001308939.1:p.Glu523=
NM_001322011.2:c.1195_1210delinsGAGATGCTGCAGCAGC NP_001308940.1:p.Glu399=
NM_001322012.2:c.1195_1210delinsGAGATGCTGCAGCAGC NP_001308941.1:p.Glu399=
NM_001322013.2:c.1555_1570delinsGAGATGCTGCAGCAGC NP_001308942.1:p.Glu519=
NM_001322014.2:c.2128_2143delinsGAGATGCTGCAGCAGC NP_001308943.1:p.Glu710=
NM_001322015.2:c.1819_1834delinsGAGATGCTGCAGCAGC NP_001308944.1:p.Glu607=
NM_001322007.2:c.1810_1825delinsGAGATGCTGCAGCAGC NP_001308936.1:p.Glu604=