Canonical Allele Identifier: CA1685255679
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982840C= , CM000669.2:g.5982840C= GRCh38
NC_000007.13:g.6022471C= , CM000669.1:g.6022471C= GRCh37
NC_000007.12:g.5988997C= NCBI36
NG_008466.1:g.31267G= , LRG_161:g.31267G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1554G= ENSP00000514615.2:n.*1554G=
ENST00000699840.2:c.2155G= ENSP00000514638.2:p.Gly719=
ENST00000699930.2:c.2050G= ENSP00000514695.2:p.Gly684=
ENST00000406569.8:c.1678+4247G= ENSP00000514464.1:n.1678+4247G=
ENST00000644110.2:c.*1752G= ENSP00000496392.2:n.*1752G=
ENST00000699752.1:c.2002G= ENSP00000514561.1:p.Gly668=
ENST00000699753.1:c.*1579G= ENSP00000514562.1:n.*1579G=
ENST00000699754.1:c.1960G= ENSP00000514563.1:p.Gly654=
ENST00000699755.1:c.*1557G= ENSP00000514564.1:n.*1557G=
ENST00000699756.1:c.*1745G= ENSP00000514565.1:n.*1745G=
ENST00000699757.1:c.*1415G= ENSP00000514566.1:n.*1415G=
ENST00000699758.1:c.*1415G= ENSP00000514567.1:n.*1415G=
ENST00000699759.1:n.3012G=
ENST00000699760.1:c.1840G= ENSP00000514568.1:p.Gly614=
ENST00000699761.1:c.1753G= ENSP00000514569.1:p.Gly585=
ENST00000699762.1:c.1585G= ENSP00000514570.1:p.Gly529=
ENST00000699763.1:c.*1248G= ENSP00000514571.1:n.*1248G=
ENST00000699764.1:c.*476G= ENSP00000514572.1:n.*476G=
ENST00000699765.1:c.*1254G= ENSP00000514573.1:n.*1254G=
ENST00000699766.1:c.2158G= ENSP00000514574.1:p.Gly720=
ENST00000699767.1:c.2158G= ENSP00000514575.1:p.Gly720=
ENST00000699768.1:c.2158G= ENSP00000514576.1:p.Gly720=
ENST00000699811.1:c.1753G= ENSP00000514614.1:p.Gly585=
ENST00000699813.1:n.2271G=
ENST00000699814.1:c.1781G=
ENST00000699815.1:c.*1689G= ENSP00000514616.1:n.*1689G=
ENST00000699816.1:c.*1048G= ENSP00000514617.1:n.*1048G=
ENST00000699817.1:c.*1752G= ENSP00000514618.1:n.*1752G=
ENST00000699818.1:c.1753G= ENSP00000514619.1:p.Gly585=
ENST00000699819.1:c.*1315G= ENSP00000514620.1:n.*1315G=
ENST00000699820.1:c.*96G= ENSP00000514621.1:n.*96G=
ENST00000699821.1:c.1753G= ENSP00000514622.1:p.Gly585=
ENST00000699822.1:c.*1610G= ENSP00000514623.1:n.*1610G=
ENST00000699823.1:c.1753G= ENSP00000514624.1:p.Gly585=
ENST00000699824.1:c.*1661G= ENSP00000514625.1:n.*1661G=
ENST00000699825.1:c.1597G= ENSP00000514626.1:p.Gly533=
ENST00000699826.1:c.*1557G= ENSP00000514627.1:n.*1557G=
ENST00000699827.1:c.1990G= ENSP00000514628.1:p.Gly664=
ENST00000699828.1:c.*1248G= ENSP00000514629.1:n.*1248G=
ENST00000699833.1:n.3930G=
ENST00000699837.1:c.1753G= ENSP00000514635.1:p.Gly585=
ENST00000699838.1:c.*2058G= ENSP00000514636.1:n.*2058G=
ENST00000699839.1:c.2344G= ENSP00000514637.1:p.Gly782=
ENST00000699916.1:c.*1415G= ENSP00000514684.1:n.*1415G=
ENST00000699917.1:c.*1607G= ENSP00000514685.1:n.*1607G=
ENST00000699918.1:c.*1659G= ENSP00000514686.1:n.*1659G=
ENST00000699919.1:c.*1745G= ENSP00000514687.1:n.*1745G=
ENST00000699920.1:c.*1794G= ENSP00000514688.1:n.*1794G=
ENST00000699928.1:c.*96G= ENSP00000514693.1:n.*96G=
ENST00000699951.1:c.*1254G= ENSP00000514706.1:n.*1254G=
ENST00000699952.1:c.804-9298G= ENSP00000514707.1:n.804-9298G=
ENST00000265849.12:c.2158G= MANE Select ENSP00000265849.7:p.Gly720=
ENST00000642292.1:c.1753G= ENSP00000495524.1:p.Gly585=
ENST00000642456.1:c.1753G= ENSP00000493814.1:p.Gly585=
ENST00000643595.1:c.*1557G= ENSP00000494497.1:n.*1557G=
ENST00000644110.1:c.1840G= ENSP00000496392.1:p.Gly614=
ENST00000265849.11:c.2158G= ENSP00000265849.7:p.Gly720=
ENST00000382321.5:c.955G= ENSP00000371758.4:p.Gly319=
ENST00000406569.7:n.1678+4247G=
ENST00000441476.6:c.1840G= ENSP00000392843.2:p.Gly614=
NM_000535.5:c.2158G= , LRG_161t1:c.2158G= NP_000526.1:p.Gly720=
NR_003085.2:n.2240G=
XM_006715742.2:c.2152G= XP_006715805.1:p.Gly718=
XM_006715744.2:c.1225G= XP_006715807.1:p.Gly409=
XM_011515427.1:c.2203G= XP_011513729.1:p.Gly735=
XM_011515428.1:c.2047G= XP_011513730.1:p.Gly683=
XM_011515429.1:c.1840G= XP_011513731.1:p.Gly614=
XM_011515430.1:c.1840G= XP_011513732.1:p.Gly614=
NM_000535.6:c.2158G= NP_000526.2:p.Gly720=
NM_001322003.1:c.1753G= NP_001308932.1:p.Gly585=
NM_001322004.1:c.1753G= NP_001308933.1:p.Gly585=
NM_001322005.1:c.1753G= NP_001308934.1:p.Gly585=
NM_001322006.1:c.2002G= NP_001308935.1:p.Gly668=
NM_001322007.1:c.1840G= NP_001308936.1:p.Gly614=
NM_001322008.1:c.1840G= NP_001308937.1:p.Gly614=
NM_001322009.1:c.1753G= NP_001308938.1:p.Gly585=
NM_001322010.1:c.1597G= NP_001308939.1:p.Gly533=
NM_001322011.1:c.1225G= NP_001308940.1:p.Gly409=
NM_001322012.1:c.1225G= NP_001308941.1:p.Gly409=
NM_001322013.1:c.1585G= NP_001308942.1:p.Gly529=
NM_001322014.1:c.2158G= NP_001308943.1:p.Gly720=
NM_001322015.1:c.1849G= NP_001308944.1:p.Gly617=
NR_136154.1:n.2245G=
XM_006715744.4:c.1225G= XP_006715807.1:p.Gly409=
XM_017012342.2:c.1225G= XP_016867831.1:p.Gly409=
XM_024446800.1:c.1597G= XP_024302568.1:p.Gly533=
NM_000535.7:c.2158G= MANE Select NP_000526.2:p.Gly720=
NM_001322003.2:c.1753G= NP_001308932.1:p.Gly585=
NM_001322004.2:c.1753G= NP_001308933.1:p.Gly585=
NM_001322005.2:c.1753G= NP_001308934.1:p.Gly585=
NM_001322006.2:c.2002G= NP_001308935.1:p.Gly668=
NM_001322008.2:c.1840G= NP_001308937.1:p.Gly614=
NM_001322009.2:c.1753G= NP_001308938.1:p.Gly585=
NM_001322010.2:c.1597G= NP_001308939.1:p.Gly533=
NM_001322011.2:c.1225G= NP_001308940.1:p.Gly409=
NM_001322012.2:c.1225G= NP_001308941.1:p.Gly409=
NM_001322013.2:c.1585G= NP_001308942.1:p.Gly529=
NM_001322014.2:c.2158G= NP_001308943.1:p.Gly720=
NM_001322015.2:c.1849G= NP_001308944.1:p.Gly617=
NM_001322007.2:c.1840G= NP_001308936.1:p.Gly614=