Canonical Allele Identifier: CA658655976
Community Standard Title: NM_000535.7(PMS2):c.1571dup (p.Gly525ArgfsTer17)
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987197dup , CM000669.2:g.5987197dup GRCh38
NC_000007.13:g.6026828dup , CM000669.1:g.6026828dup GRCh37
NC_000007.12:g.5993354dup NCBI36
NG_008466.1:g.26913dup , LRG_161:g.26913dup

Transcript Alleles

HGVS Amino-acid Change
NM_000535.7:c.1571dup MANE Select NP_000526.2:p.Gly525ArgfsTer17
ENST00000265849.12:c.1571dup MANE Select ENSP00000265849.7:p.Gly525ArgfsTer17
NM_000535.5:c.1571dup , LRG_161t1:c.1571dup NP_000526.1:p.Gly525ArgfsTer17
NM_000535.6:c.1571dup NP_000526.2:p.Gly525ArgfsTer17
NM_001322003.1:c.1166dup NP_001308932.1:p.Gly390ArgfsTer17
NM_001322003.2:c.1166dup NP_001308932.1:p.Gly390ArgfsTer17
NM_001322004.1:c.1166dup NP_001308933.1:p.Gly390ArgfsTer17
NM_001322004.2:c.1166dup NP_001308933.1:p.Gly390ArgfsTer17
NM_001322005.1:c.1166dup NP_001308934.1:p.Gly390ArgfsTer17
NM_001322005.2:c.1166dup NP_001308934.1:p.Gly390ArgfsTer17
NM_001322006.1:c.1415dup NP_001308935.1:p.Gly473ArgfsTer17
NM_001322006.2:c.1415dup NP_001308935.1:p.Gly473ArgfsTer17
NM_001322007.1:c.1253dup NP_001308936.1:p.Gly419ArgfsTer17
NM_001322007.2:c.1253dup NP_001308936.1:p.Gly419ArgfsTer17
NM_001322008.1:c.1253dup NP_001308937.1:p.Gly419ArgfsTer17
NM_001322008.2:c.1253dup NP_001308937.1:p.Gly419ArgfsTer17
NM_001322009.1:c.1166dup NP_001308938.1:p.Gly390ArgfsTer17
NM_001322009.2:c.1166dup NP_001308938.1:p.Gly390ArgfsTer17
NM_001322010.1:c.1010dup NP_001308939.1:p.Gly338ArgfsTer17
NM_001322010.2:c.1010dup NP_001308939.1:p.Gly338ArgfsTer17
NM_001322011.1:c.638dup NP_001308940.1:p.Gly214ArgfsTer17
NM_001322011.2:c.638dup NP_001308940.1:p.Gly214ArgfsTer17
NM_001322012.1:c.638dup NP_001308941.1:p.Gly214ArgfsTer17
NM_001322012.2:c.638dup NP_001308941.1:p.Gly214ArgfsTer17
NM_001322013.1:c.998dup NP_001308942.1:p.Gly334ArgfsTer17
NM_001322013.2:c.998dup NP_001308942.1:p.Gly334ArgfsTer17
NM_001322014.1:c.1571dup NP_001308943.1:p.Gly525ArgfsTer17
NM_001322014.2:c.1571dup NP_001308943.1:p.Gly525ArgfsTer17
NM_001322015.1:c.1262dup NP_001308944.1:p.Gly422ArgfsTer17
NM_001322015.2:c.1262dup NP_001308944.1:p.Gly422ArgfsTer17
NR_003085.2:n.1653dup
NR_136154.1:n.1658dup
ENST00000265849.11:c.1571dup ENSP00000265849.7:p.Gly525ArgfsTer17
ENST00000382321.5:c.804-4203dup ENSP00000371758.4:n.804-4203dup
ENST00000406569.7:n.1571dup
ENST00000406569.8:c.1571dup ENSP00000514464.1:p.Gly525ArgfsTer17
ENST00000441476.6:c.1253dup ENSP00000392843.2:p.Gly419ArgfsTer17
ENST00000469652.1:n.63-4289dup
ENST00000642292.1:c.1166dup ENSP00000495524.1:p.Gly390ArgfsTer17
ENST00000642456.1:c.1166dup ENSP00000493814.1:p.Gly390ArgfsTer17
ENST00000643595.1:c.*970dup ENSP00000494497.1:n.*970dup
ENST00000644110.1:c.1253dup ENSP00000496392.1:p.Gly419ArgfsTer17
ENST00000644110.2:c.*1165dup ENSP00000496392.2:n.*1165dup
ENST00000699752.1:c.1415dup ENSP00000514561.1:p.Gly473ArgfsTer17
ENST00000699753.1:c.*992dup ENSP00000514562.1:n.*992dup
ENST00000699754.1:c.1373dup ENSP00000514563.1:p.Gly459ArgfsTer17
ENST00000699755.1:c.*970dup ENSP00000514564.1:n.*970dup
ENST00000699756.1:c.*1158dup ENSP00000514565.1:n.*1158dup
ENST00000699757.1:c.*828dup ENSP00000514566.1:n.*828dup
ENST00000699758.1:c.*828dup ENSP00000514567.1:n.*828dup
ENST00000699759.1:n.2425dup
ENST00000699760.1:c.1253dup ENSP00000514568.1:p.Gly419ArgfsTer17
ENST00000699761.1:c.1166dup ENSP00000514569.1:p.Gly390ArgfsTer17
ENST00000699762.1:c.998dup ENSP00000514570.1:p.Gly334ArgfsTer17
ENST00000699763.1:c.*661dup ENSP00000514571.1:n.*661dup
ENST00000699764.1:c.1553+18dup ENSP00000514572.1:n.1553+18dup
ENST00000699765.1:c.*667dup ENSP00000514573.1:n.*667dup
ENST00000699766.1:c.1571dup ENSP00000514574.1:p.Gly525ArgfsTer17
ENST00000699767.1:c.1571dup ENSP00000514575.1:p.Gly525ArgfsTer17
ENST00000699768.1:c.1571dup ENSP00000514576.1:p.Gly525ArgfsTer17
ENST00000699811.1:c.1166dup ENSP00000514614.1:p.Gly390ArgfsTer17
ENST00000699813.1:n.1684dup
ENST00000699814.1:c.1194dup
ENST00000699814.2:c.*967dup ENSP00000514615.2:n.*967dup
ENST00000699815.1:c.*1102dup ENSP00000514616.1:n.*1102dup
ENST00000699816.1:c.*461dup ENSP00000514617.1:n.*461dup
ENST00000699817.1:c.*1165dup ENSP00000514618.1:n.*1165dup
ENST00000699818.1:c.1166dup ENSP00000514619.1:p.Gly390ArgfsTer17
ENST00000699819.1:c.*728dup ENSP00000514620.1:n.*728dup
ENST00000699820.1:c.1144+2606dup ENSP00000514621.1:n.1144+2606dup
ENST00000699821.1:c.1166dup ENSP00000514622.1:p.Gly390ArgfsTer17
ENST00000699822.1:c.*1023dup ENSP00000514623.1:n.*1023dup
ENST00000699823.1:c.1166dup ENSP00000514624.1:p.Gly390ArgfsTer17
ENST00000699824.1:c.*1074dup ENSP00000514625.1:n.*1074dup
ENST00000699825.1:c.1010dup ENSP00000514626.1:p.Gly338ArgfsTer17
ENST00000699826.1:c.*970dup ENSP00000514627.1:n.*970dup
ENST00000699827.1:c.1403dup ENSP00000514628.1:p.Gly469ArgfsTer17
ENST00000699828.1:c.*661dup ENSP00000514629.1:n.*661dup
ENST00000699833.1:n.3343dup
ENST00000699837.1:c.1166dup ENSP00000514635.1:p.Gly390ArgfsTer17
ENST00000699838.1:c.*1471dup ENSP00000514636.1:n.*1471dup
ENST00000699839.1:c.1757dup ENSP00000514637.1:p.Gly587ArgfsTer17
ENST00000699840.2:c.1568dup ENSP00000514638.2:p.Gly524ArgfsTer17
ENST00000699916.1:c.*828dup ENSP00000514684.1:n.*828dup
ENST00000699917.1:c.*1020dup ENSP00000514685.1:n.*1020dup
ENST00000699918.1:c.*1072dup ENSP00000514686.1:n.*1072dup
ENST00000699919.1:c.*1158dup ENSP00000514687.1:n.*1158dup
ENST00000699920.1:c.*1207dup ENSP00000514688.1:n.*1207dup
ENST00000699928.1:c.989-4203dup ENSP00000514693.1:n.989-4203dup
ENST00000699929.1:c.*872dup ENSP00000514694.1:n.*872dup
ENST00000699930.1:c.1463dup ENSP00000514695.1:p.Gly489ArgfsTer17
ENST00000699930.2:c.1463dup ENSP00000514695.2:p.Gly489ArgfsTer17
ENST00000699931.1:n.2999dup
ENST00000699951.1:c.*667dup ENSP00000514706.1:n.*667dup
ENST00000699952.1:c.803+10132dup ENSP00000514707.1:n.803+10132dup
ENST00000699953.1:c.*678dup ENSP00000514708.1:n.*678dup
ENST00000699954.1:c.*872dup ENSP00000514709.1:n.*872dup
XM_006715742.2:c.1565dup XP_006715805.1:p.Gly523ArgfsTer17
XM_006715744.2:c.638dup XP_006715807.1:p.Gly214ArgfsTer17
XM_006715744.4:c.638dup XP_006715807.1:p.Gly214ArgfsTer17
XM_011515427.1:c.1616dup XP_011513729.1:p.Gly540ArgfsTer17
XM_011515428.1:c.1460dup XP_011513730.1:p.Gly488ArgfsTer17
XM_011515429.1:c.1253dup XP_011513731.1:p.Gly419ArgfsTer17
XM_011515430.1:c.1253dup XP_011513732.1:p.Gly419ArgfsTer17
XM_017012342.2:c.638dup XP_016867831.1:p.Gly214ArgfsTer17
XM_024446800.1:c.1010dup XP_024302568.1:p.Gly338ArgfsTer17