Canonical Allele Identifier: CA1685226164

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986867_5986868delinsTG , CM000669.2:g.5986867_5986868delinsTG	GRCh38
NC_000007.13:g.6026498_6026499delinsTG , CM000669.1:g.6026498_6026499delinsTG	GRCh37
NC_000007.12:g.5993024_5993025delinsTG	NCBI36
NG_008466.1:g.27239_27240delinsCA , LRG_161:g.27239_27240delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1293_*1294delinsCA	ENSP00000514615.2:n.*1293_*1294delinsCA
ENST00000699840.2:c.1894_1895delinsCA	ENSP00000514638.2:p.His632=
ENST00000699930.2:c.1789_1790delinsCA	ENSP00000514695.2:p.His597=
ENST00000406569.8:c.1678+219_1678+220delinsCA	ENSP00000514464.1:n.1678+219_1678+220delinsCA
ENST00000644110.2:c.*1491_*1492delinsCA	ENSP00000496392.2:n.*1491_*1492delinsCA
ENST00000699752.1:c.1741_1742delinsCA	ENSP00000514561.1:p.His581=
ENST00000699753.1:c.*1318_*1319delinsCA	ENSP00000514562.1:n.*1318_*1319delinsCA
ENST00000699754.1:c.1699_1700delinsCA	ENSP00000514563.1:p.His567=
ENST00000699755.1:c.*1296_*1297delinsCA	ENSP00000514564.1:n.*1296_*1297delinsCA
ENST00000699756.1:c.*1484_*1485delinsCA	ENSP00000514565.1:n.*1484_*1485delinsCA
ENST00000699757.1:c.*1154_*1155delinsCA	ENSP00000514566.1:n.*1154_*1155delinsCA
ENST00000699758.1:c.*1154_*1155delinsCA	ENSP00000514567.1:n.*1154_*1155delinsCA
ENST00000699759.1:n.2751_2752delinsCA
ENST00000699760.1:c.1579_1580delinsCA	ENSP00000514568.1:p.His527=
ENST00000699761.1:c.1492_1493delinsCA	ENSP00000514569.1:p.His498=
ENST00000699762.1:c.1324_1325delinsCA	ENSP00000514570.1:p.His442=
ENST00000699763.1:c.*987_*988delinsCA	ENSP00000514571.1:n.*987_*988delinsCA
ENST00000699764.1:c.*215_*216delinsCA	ENSP00000514572.1:n.*215_*216delinsCA
ENST00000699765.1:c.*993_*994delinsCA	ENSP00000514573.1:n.*993_*994delinsCA
ENST00000699766.1:c.1897_1898delinsCA	ENSP00000514574.1:p.His633=
ENST00000699767.1:c.1897_1898delinsCA	ENSP00000514575.1:p.His633=
ENST00000699768.1:c.1897_1898delinsCA	ENSP00000514576.1:p.His633=
ENST00000699811.1:c.1492_1493delinsCA	ENSP00000514614.1:p.His498=
ENST00000699813.1:n.2010_2011delinsCA
ENST00000699814.1:c.1520_1521delinsCA
ENST00000699815.1:c.*1428_*1429delinsCA	ENSP00000514616.1:n.*1428_*1429delinsCA
ENST00000699816.1:c.*787_*788delinsCA	ENSP00000514617.1:n.*787_*788delinsCA
ENST00000699817.1:c.*1491_*1492delinsCA	ENSP00000514618.1:n.*1491_*1492delinsCA
ENST00000699818.1:c.1492_1493delinsCA	ENSP00000514619.1:p.His498=
ENST00000699819.1:c.*1054_*1055delinsCA	ENSP00000514620.1:n.*1054_*1055delinsCA
ENST00000699820.1:c.1144+2932_1144+2933delinsCA	ENSP00000514621.1:n.1144+2932_1144+2933delinsCA
ENST00000699821.1:c.1492_1493delinsCA	ENSP00000514622.1:p.His498=
ENST00000699822.1:c.*1349_*1350delinsCA	ENSP00000514623.1:n.*1349_*1350delinsCA
ENST00000699823.1:c.1492_1493delinsCA	ENSP00000514624.1:p.His498=
ENST00000699824.1:c.*1400_*1401delinsCA	ENSP00000514625.1:n.*1400_*1401delinsCA
ENST00000699825.1:c.1336_1337delinsCA	ENSP00000514626.1:p.His446=
ENST00000699826.1:c.*1296_*1297delinsCA	ENSP00000514627.1:n.*1296_*1297delinsCA
ENST00000699827.1:c.1729_1730delinsCA	ENSP00000514628.1:p.His577=
ENST00000699828.1:c.*987_*988delinsCA	ENSP00000514629.1:n.*987_*988delinsCA
ENST00000699833.1:n.3669_3670delinsCA
ENST00000699837.1:c.1492_1493delinsCA	ENSP00000514635.1:p.His498=
ENST00000699838.1:c.*1797_*1798delinsCA	ENSP00000514636.1:n.*1797_*1798delinsCA
ENST00000699839.1:c.2083_2084delinsCA	ENSP00000514637.1:p.His695=
ENST00000699916.1:c.*1154_*1155delinsCA	ENSP00000514684.1:n.*1154_*1155delinsCA
ENST00000699917.1:c.*1346_*1347delinsCA	ENSP00000514685.1:n.*1346_*1347delinsCA
ENST00000699918.1:c.*1398_*1399delinsCA	ENSP00000514686.1:n.*1398_*1399delinsCA
ENST00000699919.1:c.*1484_*1485delinsCA	ENSP00000514687.1:n.*1484_*1485delinsCA
ENST00000699920.1:c.*1533_*1534delinsCA	ENSP00000514688.1:n.*1533_*1534delinsCA
ENST00000699928.1:c.989-3877_989-3876delinsCA	ENSP00000514693.1:n.989-3877_989-3876delinsCA
ENST00000699951.1:c.*993_*994delinsCA	ENSP00000514706.1:n.*993_*994delinsCA
ENST00000699952.1:c.803+10458_803+10459delinsCA	ENSP00000514707.1:n.803+10458_803+10459delinsCA
ENST00000265849.12:c.1897_1898delinsCA MANE Select	ENSP00000265849.7:p.His633=
ENST00000642292.1:c.1492_1493delinsCA	ENSP00000495524.1:p.His498=
ENST00000642456.1:c.1492_1493delinsCA	ENSP00000493814.1:p.His498=
ENST00000643595.1:c.*1296_*1297delinsCA	ENSP00000494497.1:n.*1296_*1297delinsCA
ENST00000644110.1:c.1579_1580delinsCA	ENSP00000496392.1:p.His527=
ENST00000265849.11:c.1897_1898delinsCA	ENSP00000265849.7:p.His633=
ENST00000382321.5:c.804-3877_804-3876delinsCA	ENSP00000371758.4:n.804-3877_804-3876delinsCA
ENST00000406569.7:n.1678+219_1678+220delinsCA
ENST00000441476.6:c.1579_1580delinsCA	ENSP00000392843.2:p.His527=
ENST00000469652.1:n.63-3963_63-3962delinsCA
NM_000535.5:c.1897_1898delinsCA , LRG_161t1:c.1897_1898delinsCA	NP_000526.1:p.His633=
NR_003085.2:n.1979_1980delinsCA
XM_006715742.2:c.1891_1892delinsCA	XP_006715805.1:p.His631=
XM_006715744.2:c.964_965delinsCA	XP_006715807.1:p.His322=
XM_011515427.1:c.1942_1943delinsCA	XP_011513729.1:p.His648=
XM_011515428.1:c.1786_1787delinsCA	XP_011513730.1:p.His596=
XM_011515429.1:c.1579_1580delinsCA	XP_011513731.1:p.His527=
XM_011515430.1:c.1579_1580delinsCA	XP_011513732.1:p.His527=
NM_000535.6:c.1897_1898delinsCA	NP_000526.2:p.His633=
NM_001322003.1:c.1492_1493delinsCA	NP_001308932.1:p.His498=
NM_001322004.1:c.1492_1493delinsCA	NP_001308933.1:p.His498=
NM_001322005.1:c.1492_1493delinsCA	NP_001308934.1:p.His498=
NM_001322006.1:c.1741_1742delinsCA	NP_001308935.1:p.His581=
NM_001322007.1:c.1579_1580delinsCA	NP_001308936.1:p.His527=
NM_001322008.1:c.1579_1580delinsCA	NP_001308937.1:p.His527=
NM_001322009.1:c.1492_1493delinsCA	NP_001308938.1:p.His498=
NM_001322010.1:c.1336_1337delinsCA	NP_001308939.1:p.His446=
NM_001322011.1:c.964_965delinsCA	NP_001308940.1:p.His322=
NM_001322012.1:c.964_965delinsCA	NP_001308941.1:p.His322=
NM_001322013.1:c.1324_1325delinsCA	NP_001308942.1:p.His442=
NM_001322014.1:c.1897_1898delinsCA	NP_001308943.1:p.His633=
NM_001322015.1:c.1588_1589delinsCA	NP_001308944.1:p.His530=
NR_136154.1:n.1984_1985delinsCA
XM_006715744.4:c.964_965delinsCA	XP_006715807.1:p.His322=
XM_017012342.2:c.964_965delinsCA	XP_016867831.1:p.His322=
XM_024446800.1:c.1336_1337delinsCA	XP_024302568.1:p.His446=
NM_000535.7:c.1897_1898delinsCA MANE Select	NP_000526.2:p.His633=
NM_001322003.2:c.1492_1493delinsCA	NP_001308932.1:p.His498=
NM_001322004.2:c.1492_1493delinsCA	NP_001308933.1:p.His498=
NM_001322005.2:c.1492_1493delinsCA	NP_001308934.1:p.His498=
NM_001322006.2:c.1741_1742delinsCA	NP_001308935.1:p.His581=
NM_001322008.2:c.1579_1580delinsCA	NP_001308937.1:p.His527=
NM_001322009.2:c.1492_1493delinsCA	NP_001308938.1:p.His498=
NM_001322010.2:c.1336_1337delinsCA	NP_001308939.1:p.His446=
NM_001322011.2:c.964_965delinsCA	NP_001308940.1:p.His322=
NM_001322012.2:c.964_965delinsCA	NP_001308941.1:p.His322=
NM_001322013.2:c.1324_1325delinsCA	NP_001308942.1:p.His442=
NM_001322014.2:c.1897_1898delinsCA	NP_001308943.1:p.His633=
NM_001322015.2:c.1588_1589delinsCA	NP_001308944.1:p.His530=
NM_001322007.2:c.1579_1580delinsCA	NP_001308936.1:p.His527=