Canonical Allele Identifier: CA1685217803
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982962A= , CM000669.2:g.5982962A= GRCh38
NC_000007.13:g.6022593A= , CM000669.1:g.6022593A= GRCh37
NC_000007.12:g.5989119A= NCBI36
NG_008466.1:g.31145T= , LRG_161:g.31145T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1432T= ENSP00000514615.2:n.*1432T=
ENST00000699840.2:c.2033T= ENSP00000514638.2:p.Ile678=
ENST00000699930.2:c.1928T= ENSP00000514695.2:p.Ile643=
ENST00000406569.8:c.1678+4125T= ENSP00000514464.1:n.1678+4125T=
ENST00000644110.2:c.*1630T= ENSP00000496392.2:n.*1630T=
ENST00000699752.1:c.1880T= ENSP00000514561.1:p.Ile627=
ENST00000699753.1:c.*1457T= ENSP00000514562.1:n.*1457T=
ENST00000699754.1:c.1838T= ENSP00000514563.1:p.Ile613=
ENST00000699755.1:c.*1435T= ENSP00000514564.1:n.*1435T=
ENST00000699756.1:c.*1623T= ENSP00000514565.1:n.*1623T=
ENST00000699757.1:c.*1293T= ENSP00000514566.1:n.*1293T=
ENST00000699758.1:c.*1293T= ENSP00000514567.1:n.*1293T=
ENST00000699759.1:n.2890T=
ENST00000699760.1:c.1718T= ENSP00000514568.1:p.Ile573=
ENST00000699761.1:c.1631T= ENSP00000514569.1:p.Ile544=
ENST00000699762.1:c.1463T= ENSP00000514570.1:p.Ile488=
ENST00000699763.1:c.*1126T= ENSP00000514571.1:n.*1126T=
ENST00000699764.1:c.*354T= ENSP00000514572.1:n.*354T=
ENST00000699765.1:c.*1132T= ENSP00000514573.1:n.*1132T=
ENST00000699766.1:c.2036T= ENSP00000514574.1:p.Ile679=
ENST00000699767.1:c.2036T= ENSP00000514575.1:p.Ile679=
ENST00000699768.1:c.2036T= ENSP00000514576.1:p.Ile679=
ENST00000699811.1:c.1631T= ENSP00000514614.1:p.Ile544=
ENST00000699813.1:n.2149T=
ENST00000699814.1:c.1659T=
ENST00000699815.1:c.*1567T= ENSP00000514616.1:n.*1567T=
ENST00000699816.1:c.*926T= ENSP00000514617.1:n.*926T=
ENST00000699817.1:c.*1630T= ENSP00000514618.1:n.*1630T=
ENST00000699818.1:c.1631T= ENSP00000514619.1:p.Ile544=
ENST00000699819.1:c.*1193T= ENSP00000514620.1:n.*1193T=
ENST00000699820.1:c.1174T= ENSP00000514621.1:p.Leu392=
ENST00000699821.1:c.1631T= ENSP00000514622.1:p.Ile544=
ENST00000699822.1:c.*1488T= ENSP00000514623.1:n.*1488T=
ENST00000699823.1:c.1631T= ENSP00000514624.1:p.Ile544=
ENST00000699824.1:c.*1539T= ENSP00000514625.1:n.*1539T=
ENST00000699825.1:c.1475T= ENSP00000514626.1:p.Ile492=
ENST00000699826.1:c.*1435T= ENSP00000514627.1:n.*1435T=
ENST00000699827.1:c.1868T= ENSP00000514628.1:p.Ile623=
ENST00000699828.1:c.*1126T= ENSP00000514629.1:n.*1126T=
ENST00000699833.1:n.3808T=
ENST00000699837.1:c.1631T= ENSP00000514635.1:p.Ile544=
ENST00000699838.1:c.*1936T= ENSP00000514636.1:n.*1936T=
ENST00000699839.1:c.2222T= ENSP00000514637.1:p.Ile741=
ENST00000699916.1:c.*1293T= ENSP00000514684.1:n.*1293T=
ENST00000699917.1:c.*1485T= ENSP00000514685.1:n.*1485T=
ENST00000699918.1:c.*1537T= ENSP00000514686.1:n.*1537T=
ENST00000699919.1:c.*1623T= ENSP00000514687.1:n.*1623T=
ENST00000699920.1:c.*1672T= ENSP00000514688.1:n.*1672T=
ENST00000699928.1:c.1018T= ENSP00000514693.1:p.Leu340=
ENST00000699951.1:c.*1132T= ENSP00000514706.1:n.*1132T=
ENST00000699952.1:c.804-9420T= ENSP00000514707.1:n.804-9420T=
ENST00000265849.12:c.2036T= MANE Select ENSP00000265849.7:p.Ile679=
ENST00000642292.1:c.1631T= ENSP00000495524.1:p.Ile544=
ENST00000642456.1:c.1631T= ENSP00000493814.1:p.Ile544=
ENST00000643595.1:c.*1435T= ENSP00000494497.1:n.*1435T=
ENST00000644110.1:c.1718T= ENSP00000496392.1:p.Ile573=
ENST00000265849.11:c.2036T= ENSP00000265849.7:p.Ile679=
ENST00000382321.5:c.833T= ENSP00000371758.4:p.Ile278=
ENST00000406569.7:n.1678+4125T=
ENST00000441476.6:c.1718T= ENSP00000392843.2:p.Ile573=
ENST00000469652.1:n.63-57T=
NM_000535.5:c.2036T= , LRG_161t1:c.2036T= NP_000526.1:p.Ile679=
NR_003085.2:n.2118T=
XM_006715742.2:c.2030T= XP_006715805.1:p.Ile677=
XM_006715744.2:c.1103T= XP_006715807.1:p.Ile368=
XM_011515427.1:c.2081T= XP_011513729.1:p.Ile694=
XM_011515428.1:c.1925T= XP_011513730.1:p.Ile642=
XM_011515429.1:c.1718T= XP_011513731.1:p.Ile573=
XM_011515430.1:c.1718T= XP_011513732.1:p.Ile573=
NM_000535.6:c.2036T= NP_000526.2:p.Ile679=
NM_001322003.1:c.1631T= NP_001308932.1:p.Ile544=
NM_001322004.1:c.1631T= NP_001308933.1:p.Ile544=
NM_001322005.1:c.1631T= NP_001308934.1:p.Ile544=
NM_001322006.1:c.1880T= NP_001308935.1:p.Ile627=
NM_001322007.1:c.1718T= NP_001308936.1:p.Ile573=
NM_001322008.1:c.1718T= NP_001308937.1:p.Ile573=
NM_001322009.1:c.1631T= NP_001308938.1:p.Ile544=
NM_001322010.1:c.1475T= NP_001308939.1:p.Ile492=
NM_001322011.1:c.1103T= NP_001308940.1:p.Ile368=
NM_001322012.1:c.1103T= NP_001308941.1:p.Ile368=
NM_001322013.1:c.1463T= NP_001308942.1:p.Ile488=
NM_001322014.1:c.2036T= NP_001308943.1:p.Ile679=
NM_001322015.1:c.1727T= NP_001308944.1:p.Ile576=
NR_136154.1:n.2123T=
XM_006715744.4:c.1103T= XP_006715807.1:p.Ile368=
XM_017012342.2:c.1103T= XP_016867831.1:p.Ile368=
XM_024446800.1:c.1475T= XP_024302568.1:p.Ile492=
NM_000535.7:c.2036T= MANE Select NP_000526.2:p.Ile679=
NM_001322003.2:c.1631T= NP_001308932.1:p.Ile544=
NM_001322004.2:c.1631T= NP_001308933.1:p.Ile544=
NM_001322005.2:c.1631T= NP_001308934.1:p.Ile544=
NM_001322006.2:c.1880T= NP_001308935.1:p.Ile627=
NM_001322008.2:c.1718T= NP_001308937.1:p.Ile573=
NM_001322009.2:c.1631T= NP_001308938.1:p.Ile544=
NM_001322010.2:c.1475T= NP_001308939.1:p.Ile492=
NM_001322011.2:c.1103T= NP_001308940.1:p.Ile368=
NM_001322012.2:c.1103T= NP_001308941.1:p.Ile368=
NM_001322013.2:c.1463T= NP_001308942.1:p.Ile488=
NM_001322014.2:c.2036T= NP_001308943.1:p.Ile679=
NM_001322015.2:c.1727T= NP_001308944.1:p.Ile576=
NM_001322007.2:c.1718T= NP_001308936.1:p.Ile573=