Canonical Allele Identifier: CA891842807
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 582564
ClinVar RCV Id: RCV000706669
dbSNP Id: rs1562614946

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982856_5982870delinsTATACGA , CM000669.2:g.5982856_5982870delinsTATACGA GRCh38
NC_000007.13:g.6022487_6022501delinsTATACGA , CM000669.1:g.6022487_6022501delinsTATACGA GRCh37
NC_000007.12:g.5989013_5989027delinsTATACGA NCBI36
NG_008466.1:g.31237_31251delinsTCGTATA , LRG_161:g.31237_31251delinsTCGTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1524_*1538delinsTCGTATA ENSP00000514615.2:n.*1524_*1538delinsTCGTATA
ENST00000699840.2:c.2125_2139delinsTCGTATA ENSP00000514638.2:p.Glu709SerfsTer23
ENST00000699930.2:c.2020_2034delinsTCGTATA ENSP00000514695.2:p.Glu674SerfsTer23
ENST00000406569.8:c.1678+4217_1678+4231delinsTCGTATA ENSP00000514464.1:n.1678+4217_1678+4231delinsTCGTATA
ENST00000644110.2:c.*1722_*1736delinsTCGTATA ENSP00000496392.2:n.*1722_*1736delinsTCGTATA
ENST00000699752.1:c.1972_1986delinsTCGTATA ENSP00000514561.1:p.Glu658SerfsTer23
ENST00000699753.1:c.*1549_*1563delinsTCGTATA ENSP00000514562.1:n.*1549_*1563delinsTCGTATA
ENST00000699754.1:c.1930_1944delinsTCGTATA ENSP00000514563.1:p.Glu644SerfsTer23
ENST00000699755.1:c.*1527_*1541delinsTCGTATA ENSP00000514564.1:n.*1527_*1541delinsTCGTATA
ENST00000699756.1:c.*1715_*1729delinsTCGTATA ENSP00000514565.1:n.*1715_*1729delinsTCGTATA
ENST00000699757.1:c.*1385_*1399delinsTCGTATA ENSP00000514566.1:n.*1385_*1399delinsTCGTATA
ENST00000699758.1:c.*1385_*1399delinsTCGTATA ENSP00000514567.1:n.*1385_*1399delinsTCGTATA
ENST00000699759.1:n.2982_2996delinsTCGTATA
ENST00000699760.1:c.1810_1824delinsTCGTATA ENSP00000514568.1:p.Glu604SerfsTer23
ENST00000699761.1:c.1723_1737delinsTCGTATA ENSP00000514569.1:p.Glu575SerfsTer23
ENST00000699762.1:c.1555_1569delinsTCGTATA ENSP00000514570.1:p.Glu519SerfsTer23
ENST00000699763.1:c.*1218_*1232delinsTCGTATA ENSP00000514571.1:n.*1218_*1232delinsTCGTATA
ENST00000699764.1:c.*446_*460delinsTCGTATA ENSP00000514572.1:n.*446_*460delinsTCGTATA
ENST00000699765.1:c.*1224_*1238delinsTCGTATA ENSP00000514573.1:n.*1224_*1238delinsTCGTATA
ENST00000699766.1:c.2128_2142delinsTCGTATA ENSP00000514574.1:p.Glu710SerfsTer23
ENST00000699767.1:c.2128_2142delinsTCGTATA ENSP00000514575.1:p.Glu710SerfsTer23
ENST00000699768.1:c.2128_2142delinsTCGTATA ENSP00000514576.1:p.Glu710SerfsTer14
ENST00000699811.1:c.1723_1737delinsTCGTATA ENSP00000514614.1:p.Glu575SerfsTer23
ENST00000699813.1:n.2241_2255delinsTCGTATA
ENST00000699814.1:c.1751_1765delinsTCGTATA
ENST00000699815.1:c.*1659_*1673delinsTCGTATA ENSP00000514616.1:n.*1659_*1673delinsTCGTATA
ENST00000699816.1:c.*1018_*1032delinsTCGTATA ENSP00000514617.1:n.*1018_*1032delinsTCGTATA
ENST00000699817.1:c.*1722_*1736delinsTCGTATA ENSP00000514618.1:n.*1722_*1736delinsTCGTATA
ENST00000699818.1:c.1723_1737delinsTCGTATA ENSP00000514619.1:p.Glu575SerfsTer23
ENST00000699819.1:c.*1285_*1299delinsTCGTATA ENSP00000514620.1:n.*1285_*1299delinsTCGTATA
ENST00000699820.1:c.*66_*80delinsTCGTATA ENSP00000514621.1:n.*66_*80delinsTCGTATA
ENST00000699821.1:c.1723_1737delinsTCGTATA ENSP00000514622.1:p.Glu575SerfsTer23
ENST00000699822.1:c.*1580_*1594delinsTCGTATA ENSP00000514623.1:n.*1580_*1594delinsTCGTATA
ENST00000699823.1:c.1723_1737delinsTCGTATA ENSP00000514624.1:p.Glu575SerfsTer23
ENST00000699824.1:c.*1631_*1645delinsTCGTATA ENSP00000514625.1:n.*1631_*1645delinsTCGTATA
ENST00000699825.1:c.1567_1581delinsTCGTATA ENSP00000514626.1:p.Glu523SerfsTer23
ENST00000699826.1:c.*1527_*1541delinsTCGTATA ENSP00000514627.1:n.*1527_*1541delinsTCGTATA
ENST00000699827.1:c.1960_1974delinsTCGTATA ENSP00000514628.1:p.Glu654SerfsTer23
ENST00000699828.1:c.*1218_*1232delinsTCGTATA ENSP00000514629.1:n.*1218_*1232delinsTCGTATA
ENST00000699833.1:n.3900_3914delinsTCGTATA
ENST00000699837.1:c.1723_1737delinsTCGTATA ENSP00000514635.1:p.Glu575SerfsTer23
ENST00000699838.1:c.*2028_*2042delinsTCGTATA ENSP00000514636.1:n.*2028_*2042delinsTCGTATA
ENST00000699839.1:c.2314_2328delinsTCGTATA ENSP00000514637.1:p.Glu772SerfsTer23
ENST00000699916.1:c.*1385_*1399delinsTCGTATA ENSP00000514684.1:n.*1385_*1399delinsTCGTATA
ENST00000699917.1:c.*1577_*1591delinsTCGTATA ENSP00000514685.1:n.*1577_*1591delinsTCGTATA
ENST00000699918.1:c.*1629_*1643delinsTCGTATA ENSP00000514686.1:n.*1629_*1643delinsTCGTATA
ENST00000699919.1:c.*1715_*1729delinsTCGTATA ENSP00000514687.1:n.*1715_*1729delinsTCGTATA
ENST00000699920.1:c.*1764_*1778delinsTCGTATA ENSP00000514688.1:n.*1764_*1778delinsTCGTATA
ENST00000699928.1:c.*66_*80delinsTCGTATA ENSP00000514693.1:n.*66_*80delinsTCGTATA
ENST00000699951.1:c.*1224_*1238delinsTCGTATA ENSP00000514706.1:n.*1224_*1238delinsTCGTATA
ENST00000699952.1:c.804-9328_804-9314delinsTCGTATA ENSP00000514707.1:n.804-9328_804-9314delinsTCGTATA
ENST00000265849.12:c.2128_2142delinsTCGTATA MANE Select ENSP00000265849.7:p.Glu710SerfsTer23
ENST00000642292.1:c.1723_1737delinsTCGTATA ENSP00000495524.1:p.Glu575SerfsTer23
ENST00000642456.1:c.1723_1737delinsTCGTATA ENSP00000493814.1:p.Glu575SerfsTer23
ENST00000643595.1:c.*1527_*1541delinsTCGTATA ENSP00000494497.1:n.*1527_*1541delinsTCGTATA
ENST00000644110.1:c.1810_1824delinsTCGTATA ENSP00000496392.1:p.Glu604SerfsTer23
ENST00000265849.11:c.2128_2142delinsTCGTATA ENSP00000265849.7:p.Glu710SerfsTer23
ENST00000382321.5:c.925_939delinsTCGTATA ENSP00000371758.4:p.Glu309SerfsTer23
ENST00000406569.7:n.1678+4217_1678+4231delinsTCGTATA
ENST00000441476.6:c.1810_1824delinsTCGTATA ENSP00000392843.2:p.Glu604SerfsTer23
NM_000535.5:c.2128_2142delinsTCGTATA , LRG_161t1:c.2128_2142delinsTCGTATA NP_000526.1:p.Glu710SerfsTer23
NR_003085.2:n.2210_2224delinsTCGTATA
XM_006715742.2:c.2122_2136delinsTCGTATA XP_006715805.1:p.Glu708SerfsTer23
XM_006715744.2:c.1195_1209delinsTCGTATA XP_006715807.1:p.Glu399SerfsTer23
XM_011515427.1:c.2173_2187delinsTCGTATA XP_011513729.1:p.Glu725SerfsTer23
XM_011515428.1:c.2017_2031delinsTCGTATA XP_011513730.1:p.Glu673SerfsTer23
XM_011515429.1:c.1810_1824delinsTCGTATA XP_011513731.1:p.Glu604SerfsTer23
XM_011515430.1:c.1810_1824delinsTCGTATA XP_011513732.1:p.Glu604SerfsTer23
NM_000535.6:c.2128_2142delinsTCGTATA NP_000526.2:p.Glu710SerfsTer23
NM_001322003.1:c.1723_1737delinsTCGTATA NP_001308932.1:p.Glu575SerfsTer23
NM_001322004.1:c.1723_1737delinsTCGTATA NP_001308933.1:p.Glu575SerfsTer23
NM_001322005.1:c.1723_1737delinsTCGTATA NP_001308934.1:p.Glu575SerfsTer23
NM_001322006.1:c.1972_1986delinsTCGTATA NP_001308935.1:p.Glu658SerfsTer23
NM_001322007.1:c.1810_1824delinsTCGTATA NP_001308936.1:p.Glu604SerfsTer23
NM_001322008.1:c.1810_1824delinsTCGTATA NP_001308937.1:p.Glu604SerfsTer23
NM_001322009.1:c.1723_1737delinsTCGTATA NP_001308938.1:p.Glu575SerfsTer23
NM_001322010.1:c.1567_1581delinsTCGTATA NP_001308939.1:p.Glu523SerfsTer23
NM_001322011.1:c.1195_1209delinsTCGTATA NP_001308940.1:p.Glu399SerfsTer23
NM_001322012.1:c.1195_1209delinsTCGTATA NP_001308941.1:p.Glu399SerfsTer23
NM_001322013.1:c.1555_1569delinsTCGTATA NP_001308942.1:p.Glu519SerfsTer23
NM_001322014.1:c.2128_2142delinsTCGTATA NP_001308943.1:p.Glu710SerfsTer23
NM_001322015.1:c.1819_1833delinsTCGTATA NP_001308944.1:p.Glu607SerfsTer23
NR_136154.1:n.2215_2229delinsTCGTATA
XM_006715744.4:c.1195_1209delinsTCGTATA XP_006715807.1:p.Glu399SerfsTer23
XM_017012342.2:c.1195_1209delinsTCGTATA XP_016867831.1:p.Glu399SerfsTer23
XM_024446800.1:c.1567_1581delinsTCGTATA XP_024302568.1:p.Glu523SerfsTer23
NM_000535.7:c.2128_2142delinsTCGTATA MANE Select NP_000526.2:p.Glu710SerfsTer23
NM_001322003.2:c.1723_1737delinsTCGTATA NP_001308932.1:p.Glu575SerfsTer23
NM_001322004.2:c.1723_1737delinsTCGTATA NP_001308933.1:p.Glu575SerfsTer23
NM_001322005.2:c.1723_1737delinsTCGTATA NP_001308934.1:p.Glu575SerfsTer23
NM_001322006.2:c.1972_1986delinsTCGTATA NP_001308935.1:p.Glu658SerfsTer23
NM_001322008.2:c.1810_1824delinsTCGTATA NP_001308937.1:p.Glu604SerfsTer23
NM_001322009.2:c.1723_1737delinsTCGTATA NP_001308938.1:p.Glu575SerfsTer23
NM_001322010.2:c.1567_1581delinsTCGTATA NP_001308939.1:p.Glu523SerfsTer23
NM_001322011.2:c.1195_1209delinsTCGTATA NP_001308940.1:p.Glu399SerfsTer23
NM_001322012.2:c.1195_1209delinsTCGTATA NP_001308941.1:p.Glu399SerfsTer23
NM_001322013.2:c.1555_1569delinsTCGTATA NP_001308942.1:p.Glu519SerfsTer23
NM_001322014.2:c.2128_2142delinsTCGTATA NP_001308943.1:p.Glu710SerfsTer23
NM_001322015.2:c.1819_1833delinsTCGTATA NP_001308944.1:p.Glu607SerfsTer23
NM_001322007.2:c.1810_1824delinsTCGTATA NP_001308936.1:p.Glu604SerfsTer23