Canonical Allele Identifier: CA1685255683
Gene: PMS2 HGNC NCBI

Linked Data

dbSNP Id: rs1782437212

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982840_5982841insACTGCCACAGCCTCCCTGCGTGCCCTCAGGCCCCTTCTCCA , CM000669.2:g.5982840_5982841insACTGCCACAGCCTCCCTGCGTGCCCTCAGGCCCCTTCTCCA GRCh38
NC_000007.13:g.6022471_6022472insACTGCCACAGCCTCCCTGCGTGCCCTCAGGCCCCTTCTCCA , CM000669.1:g.6022471_6022472insACTGCCACAGCCTCCCTGCGTGCCCTCAGGCCCCTTCTCCA GRCh37
NC_000007.12:g.5988997_5988998insACTGCCACAGCCTCCCTGCGTGCCCTCAGGCCCCTTCTCCA NCBI36
NG_008466.1:g.31266_31267insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT , LRG_161:g.31266_31267insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1553_*1554insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514615.2:n.*1553_*1554insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699840.2:c.2154_2155insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514638.2:p.Gly719TrpfsTer19
ENST00000699930.2:c.2049_2050insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514695.2:p.Gly684TrpfsTer19
ENST00000406569.8:c.1678+4246_1678+4247insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514464.1:n.1678+4246_1678+4247insTGGAGAAGGGGCCTGAGGG...
ENST00000644110.2:c.*1751_*1752insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000496392.2:n.*1751_*1752insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699752.1:c.2001_2002insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514561.1:p.Gly668TrpfsTer19
ENST00000699753.1:c.*1578_*1579insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514562.1:n.*1578_*1579insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699754.1:c.1959_1960insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514563.1:p.Gly654TrpfsTer19
ENST00000699755.1:c.*1556_*1557insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514564.1:n.*1556_*1557insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699756.1:c.*1744_*1745insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514565.1:n.*1744_*1745insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699757.1:c.*1414_*1415insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514566.1:n.*1414_*1415insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699758.1:c.*1414_*1415insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514567.1:n.*1414_*1415insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699759.1:n.3011_3012insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT
ENST00000699760.1:c.1839_1840insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514568.1:p.Gly614TrpfsTer19
ENST00000699761.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514569.1:p.Gly585TrpfsTer19
ENST00000699762.1:c.1584_1585insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514570.1:p.Gly529TrpfsTer19
ENST00000699763.1:c.*1247_*1248insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514571.1:n.*1247_*1248insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699764.1:c.*475_*476insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514572.1:n.*475_*476insTGGAGAAGGGGCCTGAGGGCACGCAGGGA...
ENST00000699765.1:c.*1253_*1254insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514573.1:n.*1253_*1254insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699766.1:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514574.1:p.Gly720TrpfsTer19
ENST00000699767.1:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514575.1:p.Gly720TrpfsTer19
ENST00000699768.1:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514576.1:p.Gly720TrpfsTer19
ENST00000699811.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514614.1:p.Gly585TrpfsTer19
ENST00000699813.1:n.2270_2271insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT
ENST00000699814.1:c.1780_1781insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT
ENST00000699815.1:c.*1688_*1689insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514616.1:n.*1688_*1689insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699816.1:c.*1047_*1048insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514617.1:n.*1047_*1048insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699817.1:c.*1751_*1752insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514618.1:n.*1751_*1752insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699818.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514619.1:p.Gly585TrpfsTer19
ENST00000699819.1:c.*1314_*1315insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514620.1:n.*1314_*1315insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699820.1:c.*95_*96insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514621.1:n.*95_*96insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGG...
ENST00000699821.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514622.1:p.Gly585TrpfsTer19
ENST00000699822.1:c.*1609_*1610insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514623.1:n.*1609_*1610insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699823.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514624.1:p.Gly585TrpfsTer19
ENST00000699824.1:c.*1660_*1661insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514625.1:n.*1660_*1661insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699825.1:c.1596_1597insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514626.1:p.Gly533TrpfsTer19
ENST00000699826.1:c.*1556_*1557insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514627.1:n.*1556_*1557insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699827.1:c.1989_1990insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514628.1:p.Gly664TrpfsTer19
ENST00000699828.1:c.*1247_*1248insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514629.1:n.*1247_*1248insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699833.1:n.3929_3930insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT
ENST00000699837.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514635.1:p.Gly585TrpfsTer19
ENST00000699838.1:c.*2057_*2058insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514636.1:n.*2057_*2058insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699839.1:c.2343_2344insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514637.1:p.Gly782TrpfsTer19
ENST00000699916.1:c.*1414_*1415insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514684.1:n.*1414_*1415insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699917.1:c.*1606_*1607insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514685.1:n.*1606_*1607insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699918.1:c.*1658_*1659insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514686.1:n.*1658_*1659insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699919.1:c.*1744_*1745insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514687.1:n.*1744_*1745insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699920.1:c.*1793_*1794insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514688.1:n.*1793_*1794insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699928.1:c.*95_*96insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514693.1:n.*95_*96insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGG...
ENST00000699951.1:c.*1253_*1254insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514706.1:n.*1253_*1254insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000699952.1:c.804-9299_804-9298insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000514707.1:n.804-9299_804-9298insTGGAGAAGGGGCCTGAGGGCA...
ENST00000265849.12:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT MANE Select ENSP00000265849.7:p.Gly720TrpfsTer19
ENST00000642292.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000495524.1:p.Gly585TrpfsTer19
ENST00000642456.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000493814.1:p.Gly585TrpfsTer19
ENST00000643595.1:c.*1556_*1557insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000494497.1:n.*1556_*1557insTGGAGAAGGGGCCTGAGGGCACGCAGG...
ENST00000644110.1:c.1839_1840insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000496392.1:p.Gly614TrpfsTer19
ENST00000265849.11:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000265849.7:p.Gly720TrpfsTer19
ENST00000382321.5:c.954_955insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000371758.4:p.Gly319TrpfsTer19
ENST00000406569.7:n.1678+4246_1678+4247insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT
ENST00000441476.6:c.1839_1840insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT ENSP00000392843.2:p.Gly614TrpfsTer19
NM_000535.5:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT , LRG_161t1:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_000526.1:p.Gly720TrpfsTer19
NR_003085.2:n.2239_2240insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT
XM_006715742.2:c.2151_2152insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT XP_006715805.1:p.Gly718TrpfsTer19
XM_006715744.2:c.1224_1225insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT XP_006715807.1:p.Gly409TrpfsTer19
XM_011515427.1:c.2202_2203insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT XP_011513729.1:p.Gly735TrpfsTer19
XM_011515428.1:c.2046_2047insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT XP_011513730.1:p.Gly683TrpfsTer19
XM_011515429.1:c.1839_1840insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT XP_011513731.1:p.Gly614TrpfsTer19
XM_011515430.1:c.1839_1840insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT XP_011513732.1:p.Gly614TrpfsTer19
NM_000535.6:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_000526.2:p.Gly720TrpfsTer19
NM_001322003.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308932.1:p.Gly585TrpfsTer19
NM_001322004.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308933.1:p.Gly585TrpfsTer19
NM_001322005.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308934.1:p.Gly585TrpfsTer19
NM_001322006.1:c.2001_2002insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308935.1:p.Gly668TrpfsTer19
NM_001322007.1:c.1839_1840insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308936.1:p.Gly614TrpfsTer19
NM_001322008.1:c.1839_1840insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308937.1:p.Gly614TrpfsTer19
NM_001322009.1:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308938.1:p.Gly585TrpfsTer19
NM_001322010.1:c.1596_1597insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308939.1:p.Gly533TrpfsTer19
NM_001322011.1:c.1224_1225insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308940.1:p.Gly409TrpfsTer19
NM_001322012.1:c.1224_1225insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308941.1:p.Gly409TrpfsTer19
NM_001322013.1:c.1584_1585insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308942.1:p.Gly529TrpfsTer19
NM_001322014.1:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308943.1:p.Gly720TrpfsTer19
NM_001322015.1:c.1848_1849insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308944.1:p.Gly617TrpfsTer19
NR_136154.1:n.2244_2245insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT
XM_006715744.4:c.1224_1225insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT XP_006715807.1:p.Gly409TrpfsTer19
XM_017012342.2:c.1224_1225insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT XP_016867831.1:p.Gly409TrpfsTer19
XM_024446800.1:c.1596_1597insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT XP_024302568.1:p.Gly533TrpfsTer19
NM_000535.7:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT MANE Select NP_000526.2:p.Gly720TrpfsTer19
NM_001322003.2:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308932.1:p.Gly585TrpfsTer19
NM_001322004.2:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308933.1:p.Gly585TrpfsTer19
NM_001322005.2:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308934.1:p.Gly585TrpfsTer19
NM_001322006.2:c.2001_2002insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308935.1:p.Gly668TrpfsTer19
NM_001322008.2:c.1839_1840insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308937.1:p.Gly614TrpfsTer19
NM_001322009.2:c.1752_1753insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308938.1:p.Gly585TrpfsTer19
NM_001322010.2:c.1596_1597insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308939.1:p.Gly533TrpfsTer19
NM_001322011.2:c.1224_1225insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308940.1:p.Gly409TrpfsTer19
NM_001322012.2:c.1224_1225insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308941.1:p.Gly409TrpfsTer19
NM_001322013.2:c.1584_1585insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308942.1:p.Gly529TrpfsTer19
NM_001322014.2:c.2157_2158insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308943.1:p.Gly720TrpfsTer19
NM_001322015.2:c.1848_1849insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308944.1:p.Gly617TrpfsTer19
NM_001322007.2:c.1839_1840insTGGAGAAGGGGCCTGAGGGCACGCAGGGAGGCTGTGGCAGT NP_001308936.1:p.Gly614TrpfsTer19