Canonical Allele Identifier: CA2499218959
Gene: PMS2 HGNC NCBI

Linked Data

dbSNP Id: rs2128722695

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986933dup , CM000669.2:g.5986933dup GRCh38
NC_000007.13:g.6026564dup , CM000669.1:g.6026564dup GRCh37
NC_000007.12:g.5993090dup NCBI36
NG_008466.1:g.27175dup , LRG_161:g.27175dup

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1229dup ENSP00000514615.2:n.*1229dup
ENST00000699840.2:c.1830dup ENSP00000514638.2:p.Asn611Ter
ENST00000699930.2:c.1725dup ENSP00000514695.2:p.Asn576Ter
ENST00000406569.8:c.1678+155dup ENSP00000514464.1:n.1678+155dup
ENST00000644110.2:c.*1427dup ENSP00000496392.2:n.*1427dup
ENST00000699752.1:c.1677dup ENSP00000514561.1:p.Asn560Ter
ENST00000699753.1:c.*1254dup ENSP00000514562.1:n.*1254dup
ENST00000699754.1:c.1635dup ENSP00000514563.1:p.Asn546Ter
ENST00000699755.1:c.*1232dup ENSP00000514564.1:n.*1232dup
ENST00000699756.1:c.*1420dup ENSP00000514565.1:n.*1420dup
ENST00000699757.1:c.*1090dup ENSP00000514566.1:n.*1090dup
ENST00000699758.1:c.*1090dup ENSP00000514567.1:n.*1090dup
ENST00000699759.1:n.2687dup
ENST00000699760.1:c.1515dup ENSP00000514568.1:p.Asn506Ter
ENST00000699761.1:c.1428dup ENSP00000514569.1:p.Asn477Ter
ENST00000699762.1:c.1260dup ENSP00000514570.1:p.Asn421Ter
ENST00000699763.1:c.*923dup ENSP00000514571.1:n.*923dup
ENST00000699764.1:c.*151dup ENSP00000514572.1:n.*151dup
ENST00000699765.1:c.*929dup ENSP00000514573.1:n.*929dup
ENST00000699766.1:c.1833dup ENSP00000514574.1:p.Asn612Ter
ENST00000699767.1:c.1833dup ENSP00000514575.1:p.Asn612Ter
ENST00000699768.1:c.1833dup ENSP00000514576.1:p.Asn612Ter
ENST00000699811.1:c.1428dup ENSP00000514614.1:p.Asn477Ter
ENST00000699813.1:n.1946dup
ENST00000699814.1:c.1456dup
ENST00000699815.1:c.*1364dup ENSP00000514616.1:n.*1364dup
ENST00000699816.1:c.*723dup ENSP00000514617.1:n.*723dup
ENST00000699817.1:c.*1427dup ENSP00000514618.1:n.*1427dup
ENST00000699818.1:c.1428dup ENSP00000514619.1:p.Asn477Ter
ENST00000699819.1:c.*990dup ENSP00000514620.1:n.*990dup
ENST00000699820.1:c.1144+2868dup ENSP00000514621.1:n.1144+2868dup
ENST00000699821.1:c.1428dup ENSP00000514622.1:p.Asn477Ter
ENST00000699822.1:c.*1285dup ENSP00000514623.1:n.*1285dup
ENST00000699823.1:c.1428dup ENSP00000514624.1:p.Asn477Ter
ENST00000699824.1:c.*1336dup ENSP00000514625.1:n.*1336dup
ENST00000699825.1:c.1272dup ENSP00000514626.1:p.Asn425Ter
ENST00000699826.1:c.*1232dup ENSP00000514627.1:n.*1232dup
ENST00000699827.1:c.1665dup ENSP00000514628.1:p.Asn556Ter
ENST00000699828.1:c.*923dup ENSP00000514629.1:n.*923dup
ENST00000699833.1:n.3605dup
ENST00000699837.1:c.1428dup ENSP00000514635.1:p.Asn477Ter
ENST00000699838.1:c.*1733dup ENSP00000514636.1:n.*1733dup
ENST00000699839.1:c.2019dup ENSP00000514637.1:p.Asn674Ter
ENST00000699916.1:c.*1090dup ENSP00000514684.1:n.*1090dup
ENST00000699917.1:c.*1282dup ENSP00000514685.1:n.*1282dup
ENST00000699918.1:c.*1334dup ENSP00000514686.1:n.*1334dup
ENST00000699919.1:c.*1420dup ENSP00000514687.1:n.*1420dup
ENST00000699920.1:c.*1469dup ENSP00000514688.1:n.*1469dup
ENST00000699928.1:c.989-3941dup ENSP00000514693.1:n.989-3941dup
ENST00000699951.1:c.*929dup ENSP00000514706.1:n.*929dup
ENST00000699952.1:c.803+10394dup ENSP00000514707.1:n.803+10394dup
ENST00000265849.12:c.1833dup MANE Select ENSP00000265849.7:p.Asn612Ter
ENST00000642292.1:c.1428dup ENSP00000495524.1:p.Asn477Ter
ENST00000642456.1:c.1428dup ENSP00000493814.1:p.Asn477Ter
ENST00000643595.1:c.*1232dup ENSP00000494497.1:n.*1232dup
ENST00000644110.1:c.1515dup ENSP00000496392.1:p.Asn506Ter
ENST00000265849.11:c.1833dup ENSP00000265849.7:p.Asn612Ter
ENST00000382321.5:c.804-3941dup ENSP00000371758.4:n.804-3941dup
ENST00000406569.7:n.1678+155dup
ENST00000441476.6:c.1515dup ENSP00000392843.2:p.Asn506Ter
ENST00000469652.1:n.63-4027dup
NM_000535.5:c.1833dup , LRG_161t1:c.1833dup NP_000526.1:p.Asn612Ter
NR_003085.2:n.1915dup
XM_006715742.2:c.1827dup XP_006715805.1:p.Asn610Ter
XM_006715744.2:c.900dup XP_006715807.1:p.Asn301Ter
XM_011515427.1:c.1878dup XP_011513729.1:p.Asn627Ter
XM_011515428.1:c.1722dup XP_011513730.1:p.Asn575Ter
XM_011515429.1:c.1515dup XP_011513731.1:p.Asn506Ter
XM_011515430.1:c.1515dup XP_011513732.1:p.Asn506Ter
NM_000535.6:c.1833dup NP_000526.2:p.Asn612Ter
NM_001322003.1:c.1428dup NP_001308932.1:p.Asn477Ter
NM_001322004.1:c.1428dup NP_001308933.1:p.Asn477Ter
NM_001322005.1:c.1428dup NP_001308934.1:p.Asn477Ter
NM_001322006.1:c.1677dup NP_001308935.1:p.Asn560Ter
NM_001322007.1:c.1515dup NP_001308936.1:p.Asn506Ter
NM_001322008.1:c.1515dup NP_001308937.1:p.Asn506Ter
NM_001322009.1:c.1428dup NP_001308938.1:p.Asn477Ter
NM_001322010.1:c.1272dup NP_001308939.1:p.Asn425Ter
NM_001322011.1:c.900dup NP_001308940.1:p.Asn301Ter
NM_001322012.1:c.900dup NP_001308941.1:p.Asn301Ter
NM_001322013.1:c.1260dup NP_001308942.1:p.Asn421Ter
NM_001322014.1:c.1833dup NP_001308943.1:p.Asn612Ter
NM_001322015.1:c.1524dup NP_001308944.1:p.Asn509Ter
NR_136154.1:n.1920dup
XM_006715744.4:c.900dup XP_006715807.1:p.Asn301Ter
XM_017012342.2:c.900dup XP_016867831.1:p.Asn301Ter
XM_024446800.1:c.1272dup XP_024302568.1:p.Asn425Ter
NM_000535.7:c.1833dup MANE Select NP_000526.2:p.Asn612Ter
NM_001322003.2:c.1428dup NP_001308932.1:p.Asn477Ter
NM_001322004.2:c.1428dup NP_001308933.1:p.Asn477Ter
NM_001322005.2:c.1428dup NP_001308934.1:p.Asn477Ter
NM_001322006.2:c.1677dup NP_001308935.1:p.Asn560Ter
NM_001322008.2:c.1515dup NP_001308937.1:p.Asn506Ter
NM_001322009.2:c.1428dup NP_001308938.1:p.Asn477Ter
NM_001322010.2:c.1272dup NP_001308939.1:p.Asn425Ter
NM_001322011.2:c.900dup NP_001308940.1:p.Asn301Ter
NM_001322012.2:c.900dup NP_001308941.1:p.Asn301Ter
NM_001322013.2:c.1260dup NP_001308942.1:p.Asn421Ter
NM_001322014.2:c.1833dup NP_001308943.1:p.Asn612Ter
NM_001322015.2:c.1524dup NP_001308944.1:p.Asn509Ter
NM_001322007.2:c.1515dup NP_001308936.1:p.Asn506Ter