Canonical Allele Identifier: CA045422
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484278
dbSNP Id: rs754542046
gnomAD v2: 7-6026668-T-C
gnomAD v4: 7-5987037-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987037T>C , CM000669.2:g.5987037T>C GRCh38
NC_000007.13:g.6026668T>C , CM000669.1:g.6026668T>C GRCh37
NC_000007.12:g.5993194T>C NCBI36
NG_008466.1:g.27070A>G , LRG_161:g.27070A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1124A>G ENSP00000514615.2:n.*1124A>G
ENST00000699840.2:c.1725A>G ENSP00000514638.2:p.Thr575=
ENST00000699930.2:c.1620A>G ENSP00000514695.2:p.Thr540=
ENST00000406569.8:c.1678+50A>G ENSP00000514464.1:n.1678+50A>G
ENST00000644110.2:c.*1322A>G ENSP00000496392.2:n.*1322A>G
ENST00000699752.1:c.1572A>G ENSP00000514561.1:p.Thr524=
ENST00000699753.1:c.*1149A>G ENSP00000514562.1:n.*1149A>G
ENST00000699754.1:c.1530A>G ENSP00000514563.1:p.Thr510=
ENST00000699755.1:c.*1127A>G ENSP00000514564.1:n.*1127A>G
ENST00000699756.1:c.*1315A>G ENSP00000514565.1:n.*1315A>G
ENST00000699757.1:c.*985A>G ENSP00000514566.1:n.*985A>G
ENST00000699758.1:c.*985A>G ENSP00000514567.1:n.*985A>G
ENST00000699759.1:n.2582A>G
ENST00000699760.1:c.1410A>G ENSP00000514568.1:p.Thr470=
ENST00000699761.1:c.1323A>G ENSP00000514569.1:p.Thr441=
ENST00000699762.1:c.1155A>G ENSP00000514570.1:p.Thr385=
ENST00000699763.1:c.*818A>G ENSP00000514571.1:n.*818A>G
ENST00000699764.1:c.*46A>G ENSP00000514572.1:n.*46A>G
ENST00000699765.1:c.*824A>G ENSP00000514573.1:n.*824A>G
ENST00000699766.1:c.1728A>G ENSP00000514574.1:p.Thr576=
ENST00000699767.1:c.1728A>G ENSP00000514575.1:p.Thr576=
ENST00000699768.1:c.1728A>G ENSP00000514576.1:p.Thr576=
ENST00000699811.1:c.1323A>G ENSP00000514614.1:p.Thr441=
ENST00000699813.1:n.1841A>G
ENST00000699814.1:c.1351A>G
ENST00000699815.1:c.*1259A>G ENSP00000514616.1:n.*1259A>G
ENST00000699816.1:c.*618A>G ENSP00000514617.1:n.*618A>G
ENST00000699817.1:c.*1322A>G ENSP00000514618.1:n.*1322A>G
ENST00000699818.1:c.1323A>G ENSP00000514619.1:p.Thr441=
ENST00000699819.1:c.*885A>G ENSP00000514620.1:n.*885A>G
ENST00000699820.1:c.1144+2763A>G ENSP00000514621.1:n.1144+2763A>G
ENST00000699821.1:c.1323A>G ENSP00000514622.1:p.Thr441=
ENST00000699822.1:c.*1180A>G ENSP00000514623.1:n.*1180A>G
ENST00000699823.1:c.1323A>G ENSP00000514624.1:p.Thr441=
ENST00000699824.1:c.*1231A>G ENSP00000514625.1:n.*1231A>G
ENST00000699825.1:c.1167A>G ENSP00000514626.1:p.Thr389=
ENST00000699826.1:c.*1127A>G ENSP00000514627.1:n.*1127A>G
ENST00000699827.1:c.1560A>G ENSP00000514628.1:p.Thr520=
ENST00000699828.1:c.*818A>G ENSP00000514629.1:n.*818A>G
ENST00000699833.1:n.3500A>G
ENST00000699837.1:c.1323A>G ENSP00000514635.1:p.Thr441=
ENST00000699838.1:c.*1628A>G ENSP00000514636.1:n.*1628A>G
ENST00000699839.1:c.1914A>G ENSP00000514637.1:p.Thr638=
ENST00000699916.1:c.*985A>G ENSP00000514684.1:n.*985A>G
ENST00000699917.1:c.*1177A>G ENSP00000514685.1:n.*1177A>G
ENST00000699918.1:c.*1229A>G ENSP00000514686.1:n.*1229A>G
ENST00000699919.1:c.*1315A>G ENSP00000514687.1:n.*1315A>G
ENST00000699920.1:c.*1364A>G ENSP00000514688.1:n.*1364A>G
ENST00000699928.1:c.989-4046A>G ENSP00000514693.1:n.989-4046A>G
ENST00000699929.1:c.*1029A>G ENSP00000514694.1:n.*1029A>G
ENST00000699930.1:c.1620A>G ENSP00000514695.1:p.Thr540=
ENST00000699931.1:n.3156A>G
ENST00000699951.1:c.*824A>G ENSP00000514706.1:n.*824A>G
ENST00000699952.1:c.803+10289A>G ENSP00000514707.1:n.803+10289A>G
ENST00000699953.1:c.*835A>G ENSP00000514708.1:n.*835A>G
ENST00000699954.1:c.*1029A>G ENSP00000514709.1:n.*1029A>G
ENST00000265849.12:c.1728A>G MANE Select ENSP00000265849.7:p.Thr576=
ENST00000642292.1:c.1323A>G ENSP00000495524.1:p.Thr441=
ENST00000642456.1:c.1323A>G ENSP00000493814.1:p.Thr441=
ENST00000643595.1:c.*1127A>G ENSP00000494497.1:n.*1127A>G
ENST00000644110.1:c.1410A>G ENSP00000496392.1:p.Thr470=
ENST00000265849.11:c.1728A>G ENSP00000265849.7:p.Thr576=
ENST00000382321.5:c.804-4046A>G ENSP00000371758.4:n.804-4046A>G
ENST00000406569.7:n.1678+50A>G
ENST00000441476.6:c.1410A>G ENSP00000392843.2:p.Thr470=
ENST00000469652.1:n.63-4132A>G
NM_000535.5:c.1728A>G , LRG_161t1:c.1728A>G NP_000526.1:p.Thr576=
NR_003085.2:n.1810A>G
XM_006715742.2:c.1722A>G XP_006715805.1:p.Thr574=
XM_006715744.2:c.795A>G XP_006715807.1:p.Thr265=
XM_011515427.1:c.1773A>G XP_011513729.1:p.Thr591=
XM_011515428.1:c.1617A>G XP_011513730.1:p.Thr539=
XM_011515429.1:c.1410A>G XP_011513731.1:p.Thr470=
XM_011515430.1:c.1410A>G XP_011513732.1:p.Thr470=
NM_000535.6:c.1728A>G NP_000526.2:p.Thr576=
NM_001322003.1:c.1323A>G NP_001308932.1:p.Thr441=
NM_001322004.1:c.1323A>G NP_001308933.1:p.Thr441=
NM_001322005.1:c.1323A>G NP_001308934.1:p.Thr441=
NM_001322006.1:c.1572A>G NP_001308935.1:p.Thr524=
NM_001322007.1:c.1410A>G NP_001308936.1:p.Thr470=
NM_001322008.1:c.1410A>G NP_001308937.1:p.Thr470=
NM_001322009.1:c.1323A>G NP_001308938.1:p.Thr441=
NM_001322010.1:c.1167A>G NP_001308939.1:p.Thr389=
NM_001322011.1:c.795A>G NP_001308940.1:p.Thr265=
NM_001322012.1:c.795A>G NP_001308941.1:p.Thr265=
NM_001322013.1:c.1155A>G NP_001308942.1:p.Thr385=
NM_001322014.1:c.1728A>G NP_001308943.1:p.Thr576=
NM_001322015.1:c.1419A>G NP_001308944.1:p.Thr473=
NR_136154.1:n.1815A>G
XM_006715744.4:c.795A>G XP_006715807.1:p.Thr265=
XM_017012342.2:c.795A>G XP_016867831.1:p.Thr265=
XM_024446800.1:c.1167A>G XP_024302568.1:p.Thr389=
NM_000535.7:c.1728A>G MANE Select NP_000526.2:p.Thr576=
NM_001322003.2:c.1323A>G NP_001308932.1:p.Thr441=
NM_001322004.2:c.1323A>G NP_001308933.1:p.Thr441=
NM_001322005.2:c.1323A>G NP_001308934.1:p.Thr441=
NM_001322006.2:c.1572A>G NP_001308935.1:p.Thr524=
NM_001322008.2:c.1410A>G NP_001308937.1:p.Thr470=
NM_001322009.2:c.1323A>G NP_001308938.1:p.Thr441=
NM_001322010.2:c.1167A>G NP_001308939.1:p.Thr389=
NM_001322011.2:c.795A>G NP_001308940.1:p.Thr265=
NM_001322012.2:c.795A>G NP_001308941.1:p.Thr265=
NM_001322013.2:c.1155A>G NP_001308942.1:p.Thr385=
NM_001322014.2:c.1728A>G NP_001308943.1:p.Thr576=
NM_001322015.2:c.1419A>G NP_001308944.1:p.Thr473=
NM_001322007.2:c.1410A>G NP_001308936.1:p.Thr470=