Canonical Allele Identifier: CA009929
Gene: PMS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987144T= , CM000669.2:g.5987144T= GRCh38
NC_000007.13:g.6026775T= , CM000669.1:g.6026775T= GRCh37
NC_000007.12:g.5993301T= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1017A= ENSP00000514615.2:n.*1017A=
ENST00000699840.2:c.1618A= ENSP00000514638.2:p.Lys540=
ENST00000699930.2:c.1513A= ENSP00000514695.2:p.Lys505=
ENST00000406569.8:c.1621A= ENSP00000514464.1:p.Lys541=
ENST00000644110.2:c.*1215A= ENSP00000496392.2:n.*1215A=
ENST00000699752.1:c.1465A= ENSP00000514561.1:p.Lys489=
ENST00000699753.1:c.*1042A= ENSP00000514562.1:n.*1042A=
ENST00000699754.1:c.1423A= ENSP00000514563.1:p.Lys475=
ENST00000699755.1:c.*1020A= ENSP00000514564.1:n.*1020A=
ENST00000699756.1:c.*1208A= ENSP00000514565.1:n.*1208A=
ENST00000699757.1:c.*878A= ENSP00000514566.1:n.*878A=
ENST00000699758.1:c.*878A= ENSP00000514567.1:n.*878A=
ENST00000699759.1:n.2475A=
ENST00000699760.1:c.1303A= ENSP00000514568.1:p.Lys435=
ENST00000699761.1:c.1216A= ENSP00000514569.1:p.Lys406=
ENST00000699762.1:c.1048A= ENSP00000514570.1:p.Lys350=
ENST00000699763.1:c.*711A= ENSP00000514571.1:n.*711A=
ENST00000699764.1:c.1554-22A= ENSP00000514572.1:n.1554-22A=
ENST00000699765.1:c.*717A= ENSP00000514573.1:n.*717A=
ENST00000699766.1:c.1621A= ENSP00000514574.1:p.Lys541=
ENST00000699767.1:c.1621A= ENSP00000514575.1:p.Lys541=
ENST00000699768.1:c.1621A= ENSP00000514576.1:p.Lys541=
ENST00000699811.1:c.1216A= ENSP00000514614.1:p.Lys406=
ENST00000699813.1:n.1734A=
ENST00000699814.1:c.1244A=
ENST00000699815.1:c.*1152A= ENSP00000514616.1:n.*1152A=
ENST00000699816.1:c.*511A= ENSP00000514617.1:n.*511A=
ENST00000699817.1:c.*1215A= ENSP00000514618.1:n.*1215A=
ENST00000699818.1:c.1216A= ENSP00000514619.1:p.Lys406=
ENST00000699819.1:c.*778A= ENSP00000514620.1:n.*778A=
ENST00000699820.1:c.1144+2656A= ENSP00000514621.1:n.1144+2656A=
ENST00000699821.1:c.1216A= ENSP00000514622.1:p.Lys406=
ENST00000699822.1:c.*1073A= ENSP00000514623.1:n.*1073A=
ENST00000699823.1:c.1216A= ENSP00000514624.1:p.Lys406=
ENST00000699824.1:c.*1124A= ENSP00000514625.1:n.*1124A=
ENST00000699825.1:c.1060A= ENSP00000514626.1:p.Lys354=
ENST00000699826.1:c.*1020A= ENSP00000514627.1:n.*1020A=
ENST00000699827.1:c.1453A= ENSP00000514628.1:p.Lys485=
ENST00000699828.1:c.*711A= ENSP00000514629.1:n.*711A=
ENST00000699833.1:n.3393A=
ENST00000699837.1:c.1216A= ENSP00000514635.1:p.Lys406=
ENST00000699838.1:c.*1521A= ENSP00000514636.1:n.*1521A=
ENST00000699839.1:c.1807A= ENSP00000514637.1:p.Lys603=
ENST00000699916.1:c.*878A= ENSP00000514684.1:n.*878A=
ENST00000699917.1:c.*1070A= ENSP00000514685.1:n.*1070A=
ENST00000699918.1:c.*1122A= ENSP00000514686.1:n.*1122A=
ENST00000699919.1:c.*1208A= ENSP00000514687.1:n.*1208A=
ENST00000699920.1:c.*1257A= ENSP00000514688.1:n.*1257A=
ENST00000699928.1:c.989-4153A= ENSP00000514693.1:n.989-4153A=
ENST00000699929.1:c.*922A= ENSP00000514694.1:n.*922A=
ENST00000699930.1:c.1513A= ENSP00000514695.1:p.Lys505=
ENST00000699931.1:n.3049A=
ENST00000699951.1:c.*717A= ENSP00000514706.1:n.*717A=
ENST00000699952.1:c.803+10182A= ENSP00000514707.1:n.803+10182A=
ENST00000699953.1:c.*728A= ENSP00000514708.1:n.*728A=
ENST00000699954.1:c.*922A= ENSP00000514709.1:n.*922A=
ENST00000265849.12:c.1621A= MANE Select ENSP00000265849.7:p.Lys541=
ENST00000642292.1:c.1216A= ENSP00000495524.1:p.Lys406=
ENST00000642456.1:c.1216A= ENSP00000493814.1:p.Lys406=
ENST00000643595.1:c.*1020A= ENSP00000494497.1:n.*1020A=
ENST00000644110.1:c.1303A= ENSP00000496392.1:p.Lys435=
ENST00000265849.11:c.1621A= ENSP00000265849.7:p.Lys541=
ENST00000382321.5:c.804-4153A= ENSP00000371758.4:n.804-4153A=
ENST00000406569.7:n.1621A=
ENST00000441476.6:c.1303A= ENSP00000392843.2:p.Lys435=
ENST00000469652.1:n.63-4239A=
XM_006715742.2:c.1615A= XP_006715805.1:p.Lys539=
XM_006715744.2:c.688A= XP_006715807.1:p.Lys230=
XM_011515427.1:c.1666A= XP_011513729.1:p.Lys556=
XM_011515428.1:c.1510A= XP_011513730.1:p.Lys504=
XM_011515429.1:c.1303A= XP_011513731.1:p.Lys435=
XM_011515430.1:c.1303A= XP_011513732.1:p.Lys435=
NM_000535.6:c.1621A= NP_000526.2:p.Lys541=
NM_001322003.1:c.1216A= NP_001308932.1:p.Lys406=
NM_001322004.1:c.1216A= NP_001308933.1:p.Lys406=
NM_001322005.1:c.1216A= NP_001308934.1:p.Lys406=
NM_001322006.1:c.1465A= NP_001308935.1:p.Lys489=
NM_001322007.1:c.1303A= NP_001308936.1:p.Lys435=
NM_001322008.1:c.1303A= NP_001308937.1:p.Lys435=
NM_001322009.1:c.1216A= NP_001308938.1:p.Lys406=
NM_001322010.1:c.1060A= NP_001308939.1:p.Lys354=
NM_001322011.1:c.688A= NP_001308940.1:p.Lys230=
NM_001322012.1:c.688A= NP_001308941.1:p.Lys230=
NM_001322013.1:c.1048A= NP_001308942.1:p.Lys350=
NM_001322014.1:c.1621A= NP_001308943.1:p.Lys541=
NM_001322015.1:c.1312A= NP_001308944.1:p.Lys438=
NR_136154.1:n.1708A=
XM_006715744.4:c.688A= XP_006715807.1:p.Lys230=
XM_017012342.2:c.688A= XP_016867831.1:p.Lys230=
XM_024446800.1:c.1060A= XP_024302568.1:p.Lys354=
NM_000535.7:c.1621A= MANE Select NP_000526.2:p.Lys541=
NM_001322003.2:c.1216A= NP_001308932.1:p.Lys406=
NM_001322004.2:c.1216A= NP_001308933.1:p.Lys406=
NM_001322005.2:c.1216A= NP_001308934.1:p.Lys406=
NM_001322006.2:c.1465A= NP_001308935.1:p.Lys489=
NM_001322008.2:c.1303A= NP_001308937.1:p.Lys435=
NM_001322009.2:c.1216A= NP_001308938.1:p.Lys406=
NM_001322010.2:c.1060A= NP_001308939.1:p.Lys354=
NM_001322011.2:c.688A= NP_001308940.1:p.Lys230=
NM_001322012.2:c.688A= NP_001308941.1:p.Lys230=
NM_001322013.2:c.1048A= NP_001308942.1:p.Lys350=
NM_001322014.2:c.1621A= NP_001308943.1:p.Lys541=
NM_001322015.2:c.1312A= NP_001308944.1:p.Lys438=
NM_001322007.2:c.1303A= NP_001308936.1:p.Lys435=