Canonical Allele Identifier: CA1685225313
Gene: PMS2 HGNC NCBI

Linked Data

dbSNP Id: rs1782911078
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986733_5986745dup , CM000669.2:g.5986733_5986745dup GRCh38
NC_000007.13:g.6026364_6026376dup , CM000669.1:g.6026364_6026376dup GRCh37
NC_000007.12:g.5992890_5992902dup NCBI36
NG_008466.1:g.27363_27375dup , LRG_161:g.27363_27375dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1402+15_*1402+27dup ENSP00000514615.2:n.*1402+15_*1402+27dup
ENST00000699840.2:c.2003+15_2003+27dup ENSP00000514638.2:n.2003+15_2003+27dup
ENST00000699930.2:c.1898+15_1898+27dup ENSP00000514695.2:n.1898+15_1898+27dup
ENST00000406569.8:c.1678+343_1678+355dup ENSP00000514464.1:n.1678+343_1678+355dup
ENST00000644110.2:c.*1600+15_*1600+27dup ENSP00000496392.2:n.*1600+15_*1600+27dup
ENST00000699752.1:c.1850+15_1850+27dup ENSP00000514561.1:n.1850+15_1850+27dup
ENST00000699753.1:c.*1427+15_*1427+27dup ENSP00000514562.1:n.*1427+15_*1427+27dup
ENST00000699754.1:c.1808+15_1808+27dup ENSP00000514563.1:n.1808+15_1808+27dup
ENST00000699755.1:c.*1405+15_*1405+27dup ENSP00000514564.1:n.*1405+15_*1405+27dup
ENST00000699756.1:c.*1593+15_*1593+27dup ENSP00000514565.1:n.*1593+15_*1593+27dup
ENST00000699757.1:c.*1263+15_*1263+27dup ENSP00000514566.1:n.*1263+15_*1263+27dup
ENST00000699758.1:c.*1263+15_*1263+27dup ENSP00000514567.1:n.*1263+15_*1263+27dup
ENST00000699759.1:n.2860+15_2860+27dup
ENST00000699760.1:c.1688+15_1688+27dup ENSP00000514568.1:n.1688+15_1688+27dup
ENST00000699761.1:c.1601+15_1601+27dup ENSP00000514569.1:n.1601+15_1601+27dup
ENST00000699762.1:c.1433+15_1433+27dup ENSP00000514570.1:n.1433+15_1433+27dup
ENST00000699763.1:c.*1096+15_*1096+27dup ENSP00000514571.1:n.*1096+15_*1096+27dup
ENST00000699764.1:c.*324+15_*324+27dup ENSP00000514572.1:n.*324+15_*324+27dup
ENST00000699765.1:c.*1102+15_*1102+27dup ENSP00000514573.1:n.*1102+15_*1102+27dup
ENST00000699766.1:c.2006+15_2006+27dup ENSP00000514574.1:n.2006+15_2006+27dup
ENST00000699767.1:c.2006+15_2006+27dup ENSP00000514575.1:n.2006+15_2006+27dup
ENST00000699768.1:c.2006+15_2006+27dup ENSP00000514576.1:n.2006+15_2006+27dup
ENST00000699811.1:c.1601+15_1601+27dup ENSP00000514614.1:n.1601+15_1601+27dup
ENST00000699813.1:n.2119+15_2119+27dup
ENST00000699814.1:c.1629+15_1629+27dup
ENST00000699815.1:c.*1537+15_*1537+27dup ENSP00000514616.1:n.*1537+15_*1537+27dup
ENST00000699816.1:c.*896+15_*896+27dup ENSP00000514617.1:n.*896+15_*896+27dup
ENST00000699817.1:c.*1600+15_*1600+27dup ENSP00000514618.1:n.*1600+15_*1600+27dup
ENST00000699818.1:c.1601+15_1601+27dup ENSP00000514619.1:n.1601+15_1601+27dup
ENST00000699819.1:c.*1163+15_*1163+27dup ENSP00000514620.1:n.*1163+15_*1163+27dup
ENST00000699820.1:c.1144+3056_1144+3068dup ENSP00000514621.1:n.1144+3056_1144+3068dup
ENST00000699821.1:c.1601+15_1601+27dup ENSP00000514622.1:n.1601+15_1601+27dup
ENST00000699822.1:c.*1458+15_*1458+27dup ENSP00000514623.1:n.*1458+15_*1458+27dup
ENST00000699823.1:c.1601+15_1601+27dup ENSP00000514624.1:n.1601+15_1601+27dup
ENST00000699824.1:c.*1509+15_*1509+27dup ENSP00000514625.1:n.*1509+15_*1509+27dup
ENST00000699825.1:c.1445+15_1445+27dup ENSP00000514626.1:n.1445+15_1445+27dup
ENST00000699826.1:c.*1405+15_*1405+27dup ENSP00000514627.1:n.*1405+15_*1405+27dup
ENST00000699827.1:c.1838+15_1838+27dup ENSP00000514628.1:n.1838+15_1838+27dup
ENST00000699828.1:c.*1096+15_*1096+27dup ENSP00000514629.1:n.*1096+15_*1096+27dup
ENST00000699833.1:n.3778+15_3778+27dup
ENST00000699837.1:c.1601+15_1601+27dup ENSP00000514635.1:n.1601+15_1601+27dup
ENST00000699838.1:c.*1906+15_*1906+27dup ENSP00000514636.1:n.*1906+15_*1906+27dup
ENST00000699839.1:c.2192+15_2192+27dup ENSP00000514637.1:n.2192+15_2192+27dup
ENST00000699916.1:c.*1263+15_*1263+27dup ENSP00000514684.1:n.*1263+15_*1263+27dup
ENST00000699917.1:c.*1455+15_*1455+27dup ENSP00000514685.1:n.*1455+15_*1455+27dup
ENST00000699918.1:c.*1507+15_*1507+27dup ENSP00000514686.1:n.*1507+15_*1507+27dup
ENST00000699919.1:c.*1593+15_*1593+27dup ENSP00000514687.1:n.*1593+15_*1593+27dup
ENST00000699920.1:c.*1642+15_*1642+27dup ENSP00000514688.1:n.*1642+15_*1642+27dup
ENST00000699928.1:c.989-3753_989-3741dup ENSP00000514693.1:n.989-3753_989-3741dup
ENST00000699951.1:c.*1102+15_*1102+27dup ENSP00000514706.1:n.*1102+15_*1102+27dup
ENST00000699952.1:c.803+10582_803+10594dup ENSP00000514707.1:n.803+10582_803+10594dup
ENST00000265849.12:c.2006+15_2006+27dup MANE Select ENSP00000265849.7:n.2006+15_2006+27dup
ENST00000642292.1:c.1601+15_1601+27dup ENSP00000495524.1:n.1601+15_1601+27dup
ENST00000642456.1:c.1601+15_1601+27dup ENSP00000493814.1:n.1601+15_1601+27dup
ENST00000643595.1:c.*1405+15_*1405+27dup ENSP00000494497.1:n.*1405+15_*1405+27dup
ENST00000644110.1:c.1688+15_1688+27dup ENSP00000496392.1:n.1688+15_1688+27dup
ENST00000265849.11:c.2006+15_2006+27dup ENSP00000265849.7:n.2006+15_2006+27dup
ENST00000382321.5:c.804-3753_804-3741dup ENSP00000371758.4:n.804-3753_804-3741dup
ENST00000406569.7:n.1678+343_1678+355dup
ENST00000441476.6:c.1688+15_1688+27dup ENSP00000392843.2:n.1688+15_1688+27dup
ENST00000469652.1:n.63-3839_63-3827dup
NM_000535.5:c.2006+15_2006+27dup , LRG_161t1:c.2006+15_2006+27dup NP_000526.1:n.2006+15_2006+27dup
NR_003085.2:n.2088+15_2088+27dup
XM_006715742.2:c.2000+15_2000+27dup XP_006715805.1:n.2000+15_2000+27dup
XM_006715744.2:c.1073+15_1073+27dup XP_006715807.1:n.1073+15_1073+27dup
XM_011515427.1:c.2051+15_2051+27dup XP_011513729.1:n.2051+15_2051+27dup
XM_011515428.1:c.1895+15_1895+27dup XP_011513730.1:n.1895+15_1895+27dup
XM_011515429.1:c.1688+15_1688+27dup XP_011513731.1:n.1688+15_1688+27dup
XM_011515430.1:c.1688+15_1688+27dup XP_011513732.1:n.1688+15_1688+27dup
NM_000535.6:c.2006+15_2006+27dup NP_000526.2:n.2006+15_2006+27dup
NM_001322003.1:c.1601+15_1601+27dup NP_001308932.1:n.1601+15_1601+27dup
NM_001322004.1:c.1601+15_1601+27dup NP_001308933.1:n.1601+15_1601+27dup
NM_001322005.1:c.1601+15_1601+27dup NP_001308934.1:n.1601+15_1601+27dup
NM_001322006.1:c.1850+15_1850+27dup NP_001308935.1:n.1850+15_1850+27dup
NM_001322007.1:c.1688+15_1688+27dup NP_001308936.1:n.1688+15_1688+27dup
NM_001322008.1:c.1688+15_1688+27dup NP_001308937.1:n.1688+15_1688+27dup
NM_001322009.1:c.1601+15_1601+27dup NP_001308938.1:n.1601+15_1601+27dup
NM_001322010.1:c.1445+15_1445+27dup NP_001308939.1:n.1445+15_1445+27dup
NM_001322011.1:c.1073+15_1073+27dup NP_001308940.1:n.1073+15_1073+27dup
NM_001322012.1:c.1073+15_1073+27dup NP_001308941.1:n.1073+15_1073+27dup
NM_001322013.1:c.1433+15_1433+27dup NP_001308942.1:n.1433+15_1433+27dup
NM_001322014.1:c.2006+15_2006+27dup NP_001308943.1:n.2006+15_2006+27dup
NM_001322015.1:c.1697+15_1697+27dup NP_001308944.1:n.1697+15_1697+27dup
NR_136154.1:n.2093+15_2093+27dup
XM_006715744.4:c.1073+15_1073+27dup XP_006715807.1:n.1073+15_1073+27dup
XM_017012342.2:c.1073+15_1073+27dup XP_016867831.1:n.1073+15_1073+27dup
XM_024446800.1:c.1445+15_1445+27dup XP_024302568.1:n.1445+15_1445+27dup
NM_000535.7:c.2006+15_2006+27dup MANE Select NP_000526.2:n.2006+15_2006+27dup
NM_001322003.2:c.1601+15_1601+27dup NP_001308932.1:n.1601+15_1601+27dup
NM_001322004.2:c.1601+15_1601+27dup NP_001308933.1:n.1601+15_1601+27dup
NM_001322005.2:c.1601+15_1601+27dup NP_001308934.1:n.1601+15_1601+27dup
NM_001322006.2:c.1850+15_1850+27dup NP_001308935.1:n.1850+15_1850+27dup
NM_001322008.2:c.1688+15_1688+27dup NP_001308937.1:n.1688+15_1688+27dup
NM_001322009.2:c.1601+15_1601+27dup NP_001308938.1:n.1601+15_1601+27dup
NM_001322010.2:c.1445+15_1445+27dup NP_001308939.1:n.1445+15_1445+27dup
NM_001322011.2:c.1073+15_1073+27dup NP_001308940.1:n.1073+15_1073+27dup
NM_001322012.2:c.1073+15_1073+27dup NP_001308941.1:n.1073+15_1073+27dup
NM_001322013.2:c.1433+15_1433+27dup NP_001308942.1:n.1433+15_1433+27dup
NM_001322014.2:c.2006+15_2006+27dup NP_001308943.1:n.2006+15_2006+27dup
NM_001322015.2:c.1697+15_1697+27dup NP_001308944.1:n.1697+15_1697+27dup
NM_001322007.2:c.1688+15_1688+27dup NP_001308936.1:n.1688+15_1688+27dup
Search 100 bp 5'
Search 100 bp 3'