Canonical Allele Identifier: CA645563166
Gene: PMS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986936_5986937insC , CM000669.2:g.5986936_5986937insC GRCh38
NC_000007.13:g.6026567_6026568insC , CM000669.1:g.6026567_6026568insC GRCh37
NC_000007.12:g.5993093_5993094insC NCBI36
NG_008466.1:g.27170_27171insG , LRG_161:g.27170_27171insG

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1224_*1225insG ENSP00000514615.2:n.*1224_*1225insG
ENST00000699840.2:c.1825_1826insG ENSP00000514638.2:p.Lys609ArgfsTer3
ENST00000699930.2:c.1720_1721insG ENSP00000514695.2:p.Lys574ArgfsTer3
ENST00000406569.8:c.1678+150_1678+151insG ENSP00000514464.1:n.1678+150_1678+151insG...
ENST00000644110.2:c.*1422_*1423insG ENSP00000496392.2:n.*1422_*1423insG
ENST00000699752.1:c.1672_1673insG ENSP00000514561.1:p.Lys558ArgfsTer3
ENST00000699753.1:c.*1249_*1250insG ENSP00000514562.1:n.*1249_*1250insG
ENST00000699754.1:c.1630_1631insG ENSP00000514563.1:p.Lys544ArgfsTer3
ENST00000699755.1:c.*1227_*1228insG ENSP00000514564.1:n.*1227_*1228insG
ENST00000699756.1:c.*1415_*1416insG ENSP00000514565.1:n.*1415_*1416insG
ENST00000699757.1:c.*1085_*1086insG ENSP00000514566.1:n.*1085_*1086insG
ENST00000699758.1:c.*1085_*1086insG ENSP00000514567.1:n.*1085_*1086insG
ENST00000699759.1:n.2682_2683insG
ENST00000699760.1:c.1510_1511insG ENSP00000514568.1:p.Lys504ArgfsTer3
ENST00000699761.1:c.1423_1424insG ENSP00000514569.1:p.Lys475ArgfsTer3
ENST00000699762.1:c.1255_1256insG ENSP00000514570.1:p.Lys419ArgfsTer3
ENST00000699763.1:c.*918_*919insG ENSP00000514571.1:n.*918_*919insG
ENST00000699764.1:c.*146_*147insG ENSP00000514572.1:n.*146_*147insG
ENST00000699765.1:c.*924_*925insG ENSP00000514573.1:n.*924_*925insG
ENST00000699766.1:c.1828_1829insG ENSP00000514574.1:p.Lys610ArgfsTer3
ENST00000699767.1:c.1828_1829insG ENSP00000514575.1:p.Lys610ArgfsTer3
ENST00000699768.1:c.1828_1829insG ENSP00000514576.1:p.Lys610ArgfsTer3
ENST00000699811.1:c.1423_1424insG ENSP00000514614.1:p.Lys475ArgfsTer3
ENST00000699813.1:n.1941_1942insG
ENST00000699814.1:c.1451_1452insG
ENST00000699815.1:c.*1359_*1360insG ENSP00000514616.1:n.*1359_*1360insG
ENST00000699816.1:c.*718_*719insG ENSP00000514617.1:n.*718_*719insG
ENST00000699817.1:c.*1422_*1423insG ENSP00000514618.1:n.*1422_*1423insG
ENST00000699818.1:c.1423_1424insG ENSP00000514619.1:p.Lys475ArgfsTer3
ENST00000699819.1:c.*985_*986insG ENSP00000514620.1:n.*985_*986insG
ENST00000699820.1:c.1144+2863_1144+2864insG ENSP00000514621.1:n.1144+2863_1144+2864in...
ENST00000699821.1:c.1423_1424insG ENSP00000514622.1:p.Lys475ArgfsTer3
ENST00000699822.1:c.*1280_*1281insG ENSP00000514623.1:n.*1280_*1281insG
ENST00000699823.1:c.1423_1424insG ENSP00000514624.1:p.Lys475ArgfsTer3
ENST00000699824.1:c.*1331_*1332insG ENSP00000514625.1:n.*1331_*1332insG
ENST00000699825.1:c.1267_1268insG ENSP00000514626.1:p.Lys423ArgfsTer3
ENST00000699826.1:c.*1227_*1228insG ENSP00000514627.1:n.*1227_*1228insG
ENST00000699827.1:c.1660_1661insG ENSP00000514628.1:p.Lys554ArgfsTer3
ENST00000699828.1:c.*918_*919insG ENSP00000514629.1:n.*918_*919insG
ENST00000699833.1:n.3600_3601insG
ENST00000699837.1:c.1423_1424insG ENSP00000514635.1:p.Lys475ArgfsTer3
ENST00000699838.1:c.*1728_*1729insG ENSP00000514636.1:n.*1728_*1729insG
ENST00000699839.1:c.2014_2015insG ENSP00000514637.1:p.Lys672ArgfsTer3
ENST00000699916.1:c.*1085_*1086insG ENSP00000514684.1:n.*1085_*1086insG
ENST00000699917.1:c.*1277_*1278insG ENSP00000514685.1:n.*1277_*1278insG
ENST00000699918.1:c.*1329_*1330insG ENSP00000514686.1:n.*1329_*1330insG
ENST00000699919.1:c.*1415_*1416insG ENSP00000514687.1:n.*1415_*1416insG
ENST00000699920.1:c.*1464_*1465insG ENSP00000514688.1:n.*1464_*1465insG
ENST00000699928.1:c.989-3946_989-3945insG ENSP00000514693.1:n.989-3946_989-3945insG...
ENST00000699951.1:c.*924_*925insG ENSP00000514706.1:n.*924_*925insG
ENST00000699952.1:c.803+10389_803+10390insG ENSP00000514707.1:n.803+10389_803+10390in...
ENST00000265849.12:c.1828_1829insG MANE Select ENSP00000265849.7:p.Lys610ArgfsTer3
ENST00000642292.1:c.1423_1424insG ENSP00000495524.1:p.Lys475ArgfsTer3
ENST00000642456.1:c.1423_1424insG ENSP00000493814.1:p.Lys475ArgfsTer3
ENST00000643595.1:c.*1227_*1228insG ENSP00000494497.1:n.*1227_*1228insG
ENST00000644110.1:c.1510_1511insG ENSP00000496392.1:p.Lys504ArgfsTer3
ENST00000265849.11:c.1828_1829insG ENSP00000265849.7:p.Lys610ArgfsTer3
ENST00000382321.5:c.804-3946_804-3945insG ENSP00000371758.4:n.804-3946_804-3945insG...
ENST00000406569.7:n.1678+150_1678+151insG
ENST00000441476.6:c.1510_1511insG ENSP00000392843.2:p.Lys504ArgfsTer3
ENST00000469652.1:n.63-4032_63-4031insG
NM_000535.5:c.1828_1829insG , LRG_161t1:c.1828_1829insG NP_000526.1:p.Lys610ArgfsTer3
NR_003085.2:n.1910_1911insG
XM_006715742.2:c.1822_1823insG XP_006715805.1:p.Lys608ArgfsTer3
XM_006715744.2:c.895_896insG XP_006715807.1:p.Lys299ArgfsTer3
XM_011515427.1:c.1873_1874insG XP_011513729.1:p.Lys625ArgfsTer3
XM_011515428.1:c.1717_1718insG XP_011513730.1:p.Lys573ArgfsTer3
XM_011515429.1:c.1510_1511insG XP_011513731.1:p.Lys504ArgfsTer3
XM_011515430.1:c.1510_1511insG XP_011513732.1:p.Lys504ArgfsTer3
NM_000535.6:c.1828_1829insG NP_000526.2:p.Lys610ArgfsTer3
NM_001322003.1:c.1423_1424insG NP_001308932.1:p.Lys475ArgfsTer3
NM_001322004.1:c.1423_1424insG NP_001308933.1:p.Lys475ArgfsTer3
NM_001322005.1:c.1423_1424insG NP_001308934.1:p.Lys475ArgfsTer3
NM_001322006.1:c.1672_1673insG NP_001308935.1:p.Lys558ArgfsTer3
NM_001322007.1:c.1510_1511insG NP_001308936.1:p.Lys504ArgfsTer3
NM_001322008.1:c.1510_1511insG NP_001308937.1:p.Lys504ArgfsTer3
NM_001322009.1:c.1423_1424insG NP_001308938.1:p.Lys475ArgfsTer3
NM_001322010.1:c.1267_1268insG NP_001308939.1:p.Lys423ArgfsTer3
NM_001322011.1:c.895_896insG NP_001308940.1:p.Lys299ArgfsTer3
NM_001322012.1:c.895_896insG NP_001308941.1:p.Lys299ArgfsTer3
NM_001322013.1:c.1255_1256insG NP_001308942.1:p.Lys419ArgfsTer3
NM_001322014.1:c.1828_1829insG NP_001308943.1:p.Lys610ArgfsTer3
NM_001322015.1:c.1519_1520insG NP_001308944.1:p.Lys507ArgfsTer3
NR_136154.1:n.1915_1916insG
XM_006715744.4:c.895_896insG XP_006715807.1:p.Lys299ArgfsTer3
XM_017012342.2:c.895_896insG XP_016867831.1:p.Lys299ArgfsTer3
XM_024446800.1:c.1267_1268insG XP_024302568.1:p.Lys423ArgfsTer3
NM_000535.7:c.1828_1829insG MANE Select NP_000526.2:p.Lys610ArgfsTer3
NM_001322003.2:c.1423_1424insG NP_001308932.1:p.Lys475ArgfsTer3
NM_001322004.2:c.1423_1424insG NP_001308933.1:p.Lys475ArgfsTer3
NM_001322005.2:c.1423_1424insG NP_001308934.1:p.Lys475ArgfsTer3
NM_001322006.2:c.1672_1673insG NP_001308935.1:p.Lys558ArgfsTer3
NM_001322008.2:c.1510_1511insG NP_001308937.1:p.Lys504ArgfsTer3
NM_001322009.2:c.1423_1424insG NP_001308938.1:p.Lys475ArgfsTer3
NM_001322010.2:c.1267_1268insG NP_001308939.1:p.Lys423ArgfsTer3
NM_001322011.2:c.895_896insG NP_001308940.1:p.Lys299ArgfsTer3
NM_001322012.2:c.895_896insG NP_001308941.1:p.Lys299ArgfsTer3
NM_001322013.2:c.1255_1256insG NP_001308942.1:p.Lys419ArgfsTer3
NM_001322014.2:c.1828_1829insG NP_001308943.1:p.Lys610ArgfsTer3
NM_001322015.2:c.1519_1520insG NP_001308944.1:p.Lys507ArgfsTer3
NM_001322007.2:c.1510_1511insG NP_001308936.1:p.Lys504ArgfsTer3