Canonical Allele Identifier: CA366739676
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1780990
ClinVar RCV Id: RCV002412677

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986933A>C , CM000669.2:g.5986933A>C GRCh38
NC_000007.13:g.6026564A>C , CM000669.1:g.6026564A>C GRCh37
NC_000007.12:g.5993090A>C NCBI36
NG_008466.1:g.27174T>G , LRG_161:g.27174T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1228T>G ENSP00000514615.2:n.*1228T>G
ENST00000699840.2:c.1829T>G ENSP00000514638.2:p.Ile610Ser
ENST00000699930.2:c.1724T>G ENSP00000514695.2:p.Ile575Ser
ENST00000406569.8:c.1678+154T>G ENSP00000514464.1:n.1678+154T>G
ENST00000644110.2:c.*1426T>G ENSP00000496392.2:n.*1426T>G
ENST00000699752.1:c.1676T>G ENSP00000514561.1:p.Ile559Ser
ENST00000699753.1:c.*1253T>G ENSP00000514562.1:n.*1253T>G
ENST00000699754.1:c.1634T>G ENSP00000514563.1:p.Ile545Ser
ENST00000699755.1:c.*1231T>G ENSP00000514564.1:n.*1231T>G
ENST00000699756.1:c.*1419T>G ENSP00000514565.1:n.*1419T>G
ENST00000699757.1:c.*1089T>G ENSP00000514566.1:n.*1089T>G
ENST00000699758.1:c.*1089T>G ENSP00000514567.1:n.*1089T>G
ENST00000699759.1:n.2686T>G
ENST00000699760.1:c.1514T>G ENSP00000514568.1:p.Ile505Ser
ENST00000699761.1:c.1427T>G ENSP00000514569.1:p.Ile476Ser
ENST00000699762.1:c.1259T>G ENSP00000514570.1:p.Ile420Ser
ENST00000699763.1:c.*922T>G ENSP00000514571.1:n.*922T>G
ENST00000699764.1:c.*150T>G ENSP00000514572.1:n.*150T>G
ENST00000699765.1:c.*928T>G ENSP00000514573.1:n.*928T>G
ENST00000699766.1:c.1832T>G ENSP00000514574.1:p.Ile611Ser
ENST00000699767.1:c.1832T>G ENSP00000514575.1:p.Ile611Ser
ENST00000699768.1:c.1832T>G ENSP00000514576.1:p.Ile611Ser
ENST00000699811.1:c.1427T>G ENSP00000514614.1:p.Ile476Ser
ENST00000699813.1:n.1945T>G
ENST00000699814.1:c.1455T>G
ENST00000699815.1:c.*1363T>G ENSP00000514616.1:n.*1363T>G
ENST00000699816.1:c.*722T>G ENSP00000514617.1:n.*722T>G
ENST00000699817.1:c.*1426T>G ENSP00000514618.1:n.*1426T>G
ENST00000699818.1:c.1427T>G ENSP00000514619.1:p.Ile476Ser
ENST00000699819.1:c.*989T>G ENSP00000514620.1:n.*989T>G
ENST00000699820.1:c.1144+2867T>G ENSP00000514621.1:n.1144+2867T>G
ENST00000699821.1:c.1427T>G ENSP00000514622.1:p.Ile476Ser
ENST00000699822.1:c.*1284T>G ENSP00000514623.1:n.*1284T>G
ENST00000699823.1:c.1427T>G ENSP00000514624.1:p.Ile476Ser
ENST00000699824.1:c.*1335T>G ENSP00000514625.1:n.*1335T>G
ENST00000699825.1:c.1271T>G ENSP00000514626.1:p.Ile424Ser
ENST00000699826.1:c.*1231T>G ENSP00000514627.1:n.*1231T>G
ENST00000699827.1:c.1664T>G ENSP00000514628.1:p.Ile555Ser
ENST00000699828.1:c.*922T>G ENSP00000514629.1:n.*922T>G
ENST00000699833.1:n.3604T>G
ENST00000699837.1:c.1427T>G ENSP00000514635.1:p.Ile476Ser
ENST00000699838.1:c.*1732T>G ENSP00000514636.1:n.*1732T>G
ENST00000699839.1:c.2018T>G ENSP00000514637.1:p.Ile673Ser
ENST00000699916.1:c.*1089T>G ENSP00000514684.1:n.*1089T>G
ENST00000699917.1:c.*1281T>G ENSP00000514685.1:n.*1281T>G
ENST00000699918.1:c.*1333T>G ENSP00000514686.1:n.*1333T>G
ENST00000699919.1:c.*1419T>G ENSP00000514687.1:n.*1419T>G
ENST00000699920.1:c.*1468T>G ENSP00000514688.1:n.*1468T>G
ENST00000699928.1:c.989-3942T>G ENSP00000514693.1:n.989-3942T>G
ENST00000699951.1:c.*928T>G ENSP00000514706.1:n.*928T>G
ENST00000699952.1:c.803+10393T>G ENSP00000514707.1:n.803+10393T>G
ENST00000265849.12:c.1832T>G MANE Select ENSP00000265849.7:p.Ile611Ser
ENST00000642292.1:c.1427T>G ENSP00000495524.1:p.Ile476Ser
ENST00000642456.1:c.1427T>G ENSP00000493814.1:p.Ile476Ser
ENST00000643595.1:c.*1231T>G ENSP00000494497.1:n.*1231T>G
ENST00000644110.1:c.1514T>G ENSP00000496392.1:p.Ile505Ser
ENST00000265849.11:c.1832T>G ENSP00000265849.7:p.Ile611Ser
ENST00000382321.5:c.804-3942T>G ENSP00000371758.4:n.804-3942T>G
ENST00000406569.7:n.1678+154T>G
ENST00000441476.6:c.1514T>G ENSP00000392843.2:p.Ile505Ser
ENST00000469652.1:n.63-4028T>G
NM_000535.5:c.1832T>G , LRG_161t1:c.1832T>G NP_000526.1:p.Ile611Ser
NR_003085.2:n.1914T>G
XM_006715742.2:c.1826T>G XP_006715805.1:p.Ile609Ser
XM_006715744.2:c.899T>G XP_006715807.1:p.Ile300Ser
XM_011515427.1:c.1877T>G XP_011513729.1:p.Ile626Ser
XM_011515428.1:c.1721T>G XP_011513730.1:p.Ile574Ser
XM_011515429.1:c.1514T>G XP_011513731.1:p.Ile505Ser
XM_011515430.1:c.1514T>G XP_011513732.1:p.Ile505Ser
NM_000535.6:c.1832T>G NP_000526.2:p.Ile611Ser
NM_001322003.1:c.1427T>G NP_001308932.1:p.Ile476Ser
NM_001322004.1:c.1427T>G NP_001308933.1:p.Ile476Ser
NM_001322005.1:c.1427T>G NP_001308934.1:p.Ile476Ser
NM_001322006.1:c.1676T>G NP_001308935.1:p.Ile559Ser
NM_001322007.1:c.1514T>G NP_001308936.1:p.Ile505Ser
NM_001322008.1:c.1514T>G NP_001308937.1:p.Ile505Ser
NM_001322009.1:c.1427T>G NP_001308938.1:p.Ile476Ser
NM_001322010.1:c.1271T>G NP_001308939.1:p.Ile424Ser
NM_001322011.1:c.899T>G NP_001308940.1:p.Ile300Ser
NM_001322012.1:c.899T>G NP_001308941.1:p.Ile300Ser
NM_001322013.1:c.1259T>G NP_001308942.1:p.Ile420Ser
NM_001322014.1:c.1832T>G NP_001308943.1:p.Ile611Ser
NM_001322015.1:c.1523T>G NP_001308944.1:p.Ile508Ser
NR_136154.1:n.1919T>G
XM_006715744.4:c.899T>G XP_006715807.1:p.Ile300Ser
XM_017012342.2:c.899T>G XP_016867831.1:p.Ile300Ser
XM_024446800.1:c.1271T>G XP_024302568.1:p.Ile424Ser
NM_000535.7:c.1832T>G MANE Select NP_000526.2:p.Ile611Ser
NM_001322003.2:c.1427T>G NP_001308932.1:p.Ile476Ser
NM_001322004.2:c.1427T>G NP_001308933.1:p.Ile476Ser
NM_001322005.2:c.1427T>G NP_001308934.1:p.Ile476Ser
NM_001322006.2:c.1676T>G NP_001308935.1:p.Ile559Ser
NM_001322008.2:c.1514T>G NP_001308937.1:p.Ile505Ser
NM_001322009.2:c.1427T>G NP_001308938.1:p.Ile476Ser
NM_001322010.2:c.1271T>G NP_001308939.1:p.Ile424Ser
NM_001322011.2:c.899T>G NP_001308940.1:p.Ile300Ser
NM_001322012.2:c.899T>G NP_001308941.1:p.Ile300Ser
NM_001322013.2:c.1259T>G NP_001308942.1:p.Ile420Ser
NM_001322014.2:c.1832T>G NP_001308943.1:p.Ile611Ser
NM_001322015.2:c.1523T>G NP_001308944.1:p.Ile508Ser
NM_001322007.2:c.1514T>G NP_001308936.1:p.Ile505Ser