Canonical Allele Identifier: CA1685218396
Gene: PMS2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5983160T= , CM000669.2:g.5983160T= GRCh38
NC_000007.13:g.6022791T= , CM000669.1:g.6022791T= GRCh37
NC_000007.12:g.5989317T= NCBI36
NG_008466.1:g.30947A= , LRG_161:g.30947A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1403-169A= ENSP00000514615.2:n.*1403-169A=
ENST00000699840.2:c.2004-169A= ENSP00000514638.2:n.2004-169A=
ENST00000699930.2:c.1899-169A= ENSP00000514695.2:n.1899-169A=
ENST00000406569.8:c.1678+3927A= ENSP00000514464.1:n.1678+3927A=
ENST00000644110.2:c.*1601-169A= ENSP00000496392.2:n.*1601-169A=
ENST00000699752.1:c.1851-169A= ENSP00000514561.1:n.1851-169A=
ENST00000699753.1:c.*1428-169A= ENSP00000514562.1:n.*1428-169A=
ENST00000699754.1:c.1809-169A= ENSP00000514563.1:n.1809-169A=
ENST00000699755.1:c.*1406-169A= ENSP00000514564.1:n.*1406-169A=
ENST00000699756.1:c.*1594-169A= ENSP00000514565.1:n.*1594-169A=
ENST00000699757.1:c.*1264-169A= ENSP00000514566.1:n.*1264-169A=
ENST00000699758.1:c.*1264-169A= ENSP00000514567.1:n.*1264-169A=
ENST00000699759.1:n.2861-169A=
ENST00000699760.1:c.1689-169A= ENSP00000514568.1:n.1689-169A=
ENST00000699761.1:c.1602-169A= ENSP00000514569.1:n.1602-169A=
ENST00000699762.1:c.1434-169A= ENSP00000514570.1:n.1434-169A=
ENST00000699763.1:c.*1097-169A= ENSP00000514571.1:n.*1097-169A=
ENST00000699764.1:c.*325-169A= ENSP00000514572.1:n.*325-169A=
ENST00000699765.1:c.*1103-169A= ENSP00000514573.1:n.*1103-169A=
ENST00000699766.1:c.2007-169A= ENSP00000514574.1:n.2007-169A=
ENST00000699767.1:c.2007-169A= ENSP00000514575.1:n.2007-169A=
ENST00000699768.1:c.2007-169A= ENSP00000514576.1:n.2007-169A=
ENST00000699811.1:c.1602-169A= ENSP00000514614.1:n.1602-169A=
ENST00000699813.1:n.2120-169A=
ENST00000699814.1:c.1630-169A=
ENST00000699815.1:c.*1538-169A= ENSP00000514616.1:n.*1538-169A=
ENST00000699816.1:c.*897-169A= ENSP00000514617.1:n.*897-169A=
ENST00000699817.1:c.*1601-169A= ENSP00000514618.1:n.*1601-169A=
ENST00000699818.1:c.1602-169A= ENSP00000514619.1:n.1602-169A=
ENST00000699819.1:c.*1164-169A= ENSP00000514620.1:n.*1164-169A=
ENST00000699820.1:c.1145-169A= ENSP00000514621.1:n.1145-169A=
ENST00000699821.1:c.1602-169A= ENSP00000514622.1:n.1602-169A=
ENST00000699822.1:c.*1459-169A= ENSP00000514623.1:n.*1459-169A=
ENST00000699823.1:c.1602-169A= ENSP00000514624.1:n.1602-169A=
ENST00000699824.1:c.*1510-169A= ENSP00000514625.1:n.*1510-169A=
ENST00000699825.1:c.1446-169A= ENSP00000514626.1:n.1446-169A=
ENST00000699826.1:c.*1406-169A= ENSP00000514627.1:n.*1406-169A=
ENST00000699827.1:c.1839-169A= ENSP00000514628.1:n.1839-169A=
ENST00000699828.1:c.*1097-169A= ENSP00000514629.1:n.*1097-169A=
ENST00000699833.1:n.3779-169A=
ENST00000699837.1:c.1602-169A= ENSP00000514635.1:n.1602-169A=
ENST00000699838.1:c.*1907-169A= ENSP00000514636.1:n.*1907-169A=
ENST00000699839.1:c.2193-169A= ENSP00000514637.1:n.2193-169A=
ENST00000699916.1:c.*1264-169A= ENSP00000514684.1:n.*1264-169A=
ENST00000699917.1:c.*1456-169A= ENSP00000514685.1:n.*1456-169A=
ENST00000699918.1:c.*1508-169A= ENSP00000514686.1:n.*1508-169A=
ENST00000699919.1:c.*1594-169A= ENSP00000514687.1:n.*1594-169A=
ENST00000699920.1:c.*1643-169A= ENSP00000514688.1:n.*1643-169A=
ENST00000699928.1:c.989-169A= ENSP00000514693.1:n.989-169A=
ENST00000699951.1:c.*1103-169A= ENSP00000514706.1:n.*1103-169A=
ENST00000699952.1:c.804-9618A= ENSP00000514707.1:n.804-9618A=
ENST00000265849.12:c.2007-169A= MANE Select ENSP00000265849.7:n.2007-169A=
ENST00000642292.1:c.1602-169A= ENSP00000495524.1:n.1602-169A=
ENST00000642456.1:c.1602-169A= ENSP00000493814.1:n.1602-169A=
ENST00000643595.1:c.*1406-169A= ENSP00000494497.1:n.*1406-169A=
ENST00000644110.1:c.1689-169A= ENSP00000496392.1:n.1689-169A=
ENST00000265849.11:c.2007-169A= ENSP00000265849.7:n.2007-169A=
ENST00000382321.5:c.804-169A= ENSP00000371758.4:n.804-169A=
ENST00000406569.7:n.1678+3927A=
ENST00000441476.6:c.1689-169A= ENSP00000392843.2:n.1689-169A=
ENST00000469652.1:n.63-255A=
NM_000535.5:c.2007-169A= , LRG_161t1:c.2007-169A= NP_000526.1:n.2007-169A=
NR_003085.2:n.2089-169A=
XM_006715742.2:c.2001-169A= XP_006715805.1:n.2001-169A=
XM_006715744.2:c.1074-169A= XP_006715807.1:n.1074-169A=
XM_011515427.1:c.2052-169A= XP_011513729.1:n.2052-169A=
XM_011515428.1:c.1896-169A= XP_011513730.1:n.1896-169A=
XM_011515429.1:c.1689-169A= XP_011513731.1:n.1689-169A=
XM_011515430.1:c.1689-169A= XP_011513732.1:n.1689-169A=
NM_000535.6:c.2007-169A= NP_000526.2:n.2007-169A=
NM_001322003.1:c.1602-169A= NP_001308932.1:n.1602-169A=
NM_001322004.1:c.1602-169A= NP_001308933.1:n.1602-169A=
NM_001322005.1:c.1602-169A= NP_001308934.1:n.1602-169A=
NM_001322006.1:c.1851-169A= NP_001308935.1:n.1851-169A=
NM_001322007.1:c.1689-169A= NP_001308936.1:n.1689-169A=
NM_001322008.1:c.1689-169A= NP_001308937.1:n.1689-169A=
NM_001322009.1:c.1602-169A= NP_001308938.1:n.1602-169A=
NM_001322010.1:c.1446-169A= NP_001308939.1:n.1446-169A=
NM_001322011.1:c.1074-169A= NP_001308940.1:n.1074-169A=
NM_001322012.1:c.1074-169A= NP_001308941.1:n.1074-169A=
NM_001322013.1:c.1434-169A= NP_001308942.1:n.1434-169A=
NM_001322014.1:c.2007-169A= NP_001308943.1:n.2007-169A=
NM_001322015.1:c.1698-169A= NP_001308944.1:n.1698-169A=
NR_136154.1:n.2094-169A=
XM_006715744.4:c.1074-169A= XP_006715807.1:n.1074-169A=
XM_017012342.2:c.1074-169A= XP_016867831.1:n.1074-169A=
XM_024446800.1:c.1446-169A= XP_024302568.1:n.1446-169A=
NM_000535.7:c.2007-169A= MANE Select NP_000526.2:n.2007-169A=
NM_001322003.2:c.1602-169A= NP_001308932.1:n.1602-169A=
NM_001322004.2:c.1602-169A= NP_001308933.1:n.1602-169A=
NM_001322005.2:c.1602-169A= NP_001308934.1:n.1602-169A=
NM_001322006.2:c.1851-169A= NP_001308935.1:n.1851-169A=
NM_001322008.2:c.1689-169A= NP_001308937.1:n.1689-169A=
NM_001322009.2:c.1602-169A= NP_001308938.1:n.1602-169A=
NM_001322010.2:c.1446-169A= NP_001308939.1:n.1446-169A=
NM_001322011.2:c.1074-169A= NP_001308940.1:n.1074-169A=
NM_001322012.2:c.1074-169A= NP_001308941.1:n.1074-169A=
NM_001322013.2:c.1434-169A= NP_001308942.1:n.1434-169A=
NM_001322014.2:c.2007-169A= NP_001308943.1:n.2007-169A=
NM_001322015.2:c.1698-169A= NP_001308944.1:n.1698-169A=
NM_001322007.2:c.1689-169A= NP_001308936.1:n.1689-169A=
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