Canonical Allele Identifier: CA1685225795
Community Standard Title: NM_000535.7(PMS2):c.1939A= (p.Lys647=)
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986826T= , CM000669.2:g.5986826T= GRCh38
NC_000007.13:g.6026457T= , CM000669.1:g.6026457T= GRCh37
NC_000007.12:g.5992983T= NCBI36
NG_008466.1:g.27281A= , LRG_161:g.27281A=

Transcript Alleles

HGVS Amino-acid Change
NM_000535.7:c.1939A= MANE Select NP_000526.2:p.Lys647=
ENST00000265849.12:c.1939A= MANE Select ENSP00000265849.7:p.Lys647=
NM_000535.5:c.1939A= , LRG_161t1:c.1939A= NP_000526.1:p.Lys647=
NM_000535.6:c.1939A= NP_000526.2:p.Lys647=
NM_001322003.1:c.1534A= NP_001308932.1:p.Lys512=
NM_001322003.2:c.1534A= NP_001308932.1:p.Lys512=
NM_001322004.1:c.1534A= NP_001308933.1:p.Lys512=
NM_001322004.2:c.1534A= NP_001308933.1:p.Lys512=
NM_001322005.1:c.1534A= NP_001308934.1:p.Lys512=
NM_001322005.2:c.1534A= NP_001308934.1:p.Lys512=
NM_001322006.1:c.1783A= NP_001308935.1:p.Lys595=
NM_001322006.2:c.1783A= NP_001308935.1:p.Lys595=
NM_001322007.1:c.1621A= NP_001308936.1:p.Lys541=
NM_001322007.2:c.1621A= NP_001308936.1:p.Lys541=
NM_001322008.1:c.1621A= NP_001308937.1:p.Lys541=
NM_001322008.2:c.1621A= NP_001308937.1:p.Lys541=
NM_001322009.1:c.1534A= NP_001308938.1:p.Lys512=
NM_001322009.2:c.1534A= NP_001308938.1:p.Lys512=
NM_001322010.1:c.1378A= NP_001308939.1:p.Lys460=
NM_001322010.2:c.1378A= NP_001308939.1:p.Lys460=
NM_001322011.1:c.1006A= NP_001308940.1:p.Lys336=
NM_001322011.2:c.1006A= NP_001308940.1:p.Lys336=
NM_001322012.1:c.1006A= NP_001308941.1:p.Lys336=
NM_001322012.2:c.1006A= NP_001308941.1:p.Lys336=
NM_001322013.1:c.1366A= NP_001308942.1:p.Lys456=
NM_001322013.2:c.1366A= NP_001308942.1:p.Lys456=
NM_001322014.1:c.1939A= NP_001308943.1:p.Lys647=
NM_001322014.2:c.1939A= NP_001308943.1:p.Lys647=
NM_001322015.1:c.1630A= NP_001308944.1:p.Lys544=
NM_001322015.2:c.1630A= NP_001308944.1:p.Lys544=
NR_003085.2:n.2021A=
NR_136154.1:n.2026A=
ENST00000265849.11:c.1939A= ENSP00000265849.7:p.Lys647=
ENST00000382321.5:c.804-3835A= ENSP00000371758.4:n.804-3835A=
ENST00000406569.7:n.1678+261A=
ENST00000406569.8:c.1678+261A= ENSP00000514464.1:n.1678+261A=
ENST00000441476.6:c.1621A= ENSP00000392843.2:p.Lys541=
ENST00000469652.1:n.63-3921A=
ENST00000642292.1:c.1534A= ENSP00000495524.1:p.Lys512=
ENST00000642456.1:c.1534A= ENSP00000493814.1:p.Lys512=
ENST00000643595.1:c.*1338A= ENSP00000494497.1:n.*1338A=
ENST00000644110.1:c.1621A= ENSP00000496392.1:p.Lys541=
ENST00000644110.2:c.*1533A= ENSP00000496392.2:n.*1533A=
ENST00000699752.1:c.1783A= ENSP00000514561.1:p.Lys595=
ENST00000699753.1:c.*1360A= ENSP00000514562.1:n.*1360A=
ENST00000699754.1:c.1741A= ENSP00000514563.1:p.Lys581=
ENST00000699755.1:c.*1338A= ENSP00000514564.1:n.*1338A=
ENST00000699756.1:c.*1526A= ENSP00000514565.1:n.*1526A=
ENST00000699757.1:c.*1196A= ENSP00000514566.1:n.*1196A=
ENST00000699758.1:c.*1196A= ENSP00000514567.1:n.*1196A=
ENST00000699759.1:n.2793A=
ENST00000699760.1:c.1621A= ENSP00000514568.1:p.Lys541=
ENST00000699761.1:c.1534A= ENSP00000514569.1:p.Lys512=
ENST00000699762.1:c.1366A= ENSP00000514570.1:p.Lys456=
ENST00000699763.1:c.*1029A= ENSP00000514571.1:n.*1029A=
ENST00000699764.1:c.*257A= ENSP00000514572.1:n.*257A=
ENST00000699765.1:c.*1035A= ENSP00000514573.1:n.*1035A=
ENST00000699766.1:c.1939A= ENSP00000514574.1:p.Lys647=
ENST00000699767.1:c.1939A= ENSP00000514575.1:p.Lys647=
ENST00000699768.1:c.1939A= ENSP00000514576.1:p.Lys647=
ENST00000699811.1:c.1534A= ENSP00000514614.1:p.Lys512=
ENST00000699813.1:n.2052A=
ENST00000699814.1:c.1562A=
ENST00000699814.2:c.*1335A= ENSP00000514615.2:n.*1335A=
ENST00000699815.1:c.*1470A= ENSP00000514616.1:n.*1470A=
ENST00000699816.1:c.*829A= ENSP00000514617.1:n.*829A=
ENST00000699817.1:c.*1533A= ENSP00000514618.1:n.*1533A=
ENST00000699818.1:c.1534A= ENSP00000514619.1:p.Lys512=
ENST00000699819.1:c.*1096A= ENSP00000514620.1:n.*1096A=
ENST00000699820.1:c.1144+2974A= ENSP00000514621.1:n.1144+2974A=
ENST00000699821.1:c.1534A= ENSP00000514622.1:p.Lys512=
ENST00000699822.1:c.*1391A= ENSP00000514623.1:n.*1391A=
ENST00000699823.1:c.1534A= ENSP00000514624.1:p.Lys512=
ENST00000699824.1:c.*1442A= ENSP00000514625.1:n.*1442A=
ENST00000699825.1:c.1378A= ENSP00000514626.1:p.Lys460=
ENST00000699826.1:c.*1338A= ENSP00000514627.1:n.*1338A=
ENST00000699827.1:c.1771A= ENSP00000514628.1:p.Lys591=
ENST00000699828.1:c.*1029A= ENSP00000514629.1:n.*1029A=
ENST00000699833.1:n.3711A=
ENST00000699837.1:c.1534A= ENSP00000514635.1:p.Lys512=
ENST00000699838.1:c.*1839A= ENSP00000514636.1:n.*1839A=
ENST00000699839.1:c.2125A= ENSP00000514637.1:p.Lys709=
ENST00000699840.2:c.1936A= ENSP00000514638.2:p.Lys646=
ENST00000699916.1:c.*1196A= ENSP00000514684.1:n.*1196A=
ENST00000699917.1:c.*1388A= ENSP00000514685.1:n.*1388A=
ENST00000699918.1:c.*1440A= ENSP00000514686.1:n.*1440A=
ENST00000699919.1:c.*1526A= ENSP00000514687.1:n.*1526A=
ENST00000699920.1:c.*1575A= ENSP00000514688.1:n.*1575A=
ENST00000699928.1:c.989-3835A= ENSP00000514693.1:n.989-3835A=
ENST00000699930.2:c.1831A= ENSP00000514695.2:p.Lys611=
ENST00000699951.1:c.*1035A= ENSP00000514706.1:n.*1035A=
ENST00000699952.1:c.803+10500A= ENSP00000514707.1:n.803+10500A=
XM_006715742.2:c.1933A= XP_006715805.1:p.Lys645=
XM_006715744.2:c.1006A= XP_006715807.1:p.Lys336=
XM_006715744.4:c.1006A= XP_006715807.1:p.Lys336=
XM_011515427.1:c.1984A= XP_011513729.1:p.Lys662=
XM_011515428.1:c.1828A= XP_011513730.1:p.Lys610=
XM_011515429.1:c.1621A= XP_011513731.1:p.Lys541=
XM_011515430.1:c.1621A= XP_011513732.1:p.Lys541=
XM_017012342.2:c.1006A= XP_016867831.1:p.Lys336=
XM_024446800.1:c.1378A= XP_024302568.1:p.Lys460=