Canonical Allele Identifier: CA366742733
Gene: PMS2 HGNC NCBI

Linked Data

dbSNP Id: rs2128746946

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5989807A>T , CM000669.2:g.5989807A>T GRCh38
NC_000007.13:g.6029438A>T , CM000669.1:g.6029438A>T GRCh37
NC_000007.12:g.5995964A>T NCBI36
NG_008466.1:g.24300T>A , LRG_161:g.24300T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*533T>A ENSP00000514615.2:n.*533T>A
ENST00000699840.2:c.1134T>A ENSP00000514638.2:p.Asp378Glu
ENST00000699930.2:c.1029T>A ENSP00000514695.2:p.Asp343Glu
ENST00000406569.8:c.1137T>A ENSP00000514464.1:p.Asp379Glu
ENST00000644110.2:c.*731T>A ENSP00000496392.2:n.*731T>A
ENST00000699752.1:c.988+2166T>A ENSP00000514561.1:n.988+2166T>A
ENST00000699753.1:c.*558T>A ENSP00000514562.1:n.*558T>A
ENST00000699754.1:c.939T>A ENSP00000514563.1:p.Asp313Glu
ENST00000699755.1:c.*536T>A ENSP00000514564.1:n.*536T>A
ENST00000699756.1:c.*724T>A ENSP00000514565.1:n.*724T>A
ENST00000699757.1:c.*394T>A ENSP00000514566.1:n.*394T>A
ENST00000699758.1:c.*394T>A ENSP00000514567.1:n.*394T>A
ENST00000699759.1:n.1991T>A
ENST00000699760.1:c.819T>A ENSP00000514568.1:p.Asp273Glu
ENST00000699761.1:c.732T>A ENSP00000514569.1:p.Asp244Glu
ENST00000699762.1:c.564T>A ENSP00000514570.1:p.Asp188Glu
ENST00000699763.1:c.*227T>A ENSP00000514571.1:n.*227T>A
ENST00000699764.1:c.1137T>A ENSP00000514572.1:p.Asp379Glu
ENST00000699765.1:c.*233T>A ENSP00000514573.1:n.*233T>A
ENST00000699766.1:c.1137T>A ENSP00000514574.1:p.Asp379Glu
ENST00000699767.1:c.1137T>A ENSP00000514575.1:p.Asp379Glu
ENST00000699768.1:c.1137T>A ENSP00000514576.1:p.Asp379Glu
ENST00000699811.1:c.732T>A ENSP00000514614.1:p.Asp244Glu
ENST00000699813.1:n.1250T>A
ENST00000699814.1:c.760T>A
ENST00000699815.1:c.*629T>A ENSP00000514616.1:n.*629T>A
ENST00000699816.1:c.732T>A ENSP00000514617.1:p.Asp244Glu
ENST00000699817.1:c.*731T>A ENSP00000514618.1:n.*731T>A
ENST00000699818.1:c.732T>A ENSP00000514619.1:p.Asp244Glu
ENST00000699819.1:c.*294T>A ENSP00000514620.1:n.*294T>A
ENST00000699820.1:c.1137T>A ENSP00000514621.1:p.Asp379Glu
ENST00000699821.1:c.732T>A ENSP00000514622.1:p.Asp244Glu
ENST00000699822.1:c.*589T>A ENSP00000514623.1:n.*589T>A
ENST00000699823.1:c.732T>A ENSP00000514624.1:p.Asp244Glu
ENST00000699824.1:c.*640T>A ENSP00000514625.1:n.*640T>A
ENST00000699825.1:c.583+2166T>A ENSP00000514626.1:n.583+2166T>A
ENST00000699826.1:c.*536T>A ENSP00000514627.1:n.*536T>A
ENST00000699827.1:c.969T>A ENSP00000514628.1:p.Asp323Glu
ENST00000699828.1:c.*227T>A ENSP00000514629.1:n.*227T>A
ENST00000699829.1:c.*638T>A ENSP00000514630.1:n.*638T>A
ENST00000699830.1:c.*536T>A ENSP00000514631.1:n.*536T>A
ENST00000699833.1:n.2909T>A
ENST00000699837.1:c.732T>A ENSP00000514635.1:p.Asp244Glu
ENST00000699838.1:c.*1037T>A ENSP00000514636.1:n.*1037T>A
ENST00000699839.1:c.1323T>A ENSP00000514637.1:p.Asp441Glu
ENST00000699840.1:c.1134T>A ENSP00000514638.1:p.Asp378Glu
ENST00000699916.1:c.*394T>A ENSP00000514684.1:n.*394T>A
ENST00000699917.1:c.*586T>A ENSP00000514685.1:n.*586T>A
ENST00000699918.1:c.*638T>A ENSP00000514686.1:n.*638T>A
ENST00000699919.1:c.*724T>A ENSP00000514687.1:n.*724T>A
ENST00000699920.1:c.*773T>A ENSP00000514688.1:n.*773T>A
ENST00000699928.1:c.988+2166T>A ENSP00000514693.1:n.988+2166T>A
ENST00000699929.1:c.*438T>A ENSP00000514694.1:n.*438T>A
ENST00000699930.1:c.1029T>A ENSP00000514695.1:p.Asp343Glu
ENST00000699931.1:n.2565T>A
ENST00000699932.1:c.*355T>A ENSP00000514696.1:n.*355T>A
ENST00000699933.1:n.1117T>A
ENST00000699951.1:c.*233T>A ENSP00000514706.1:n.*233T>A
ENST00000699952.1:c.803+7519T>A ENSP00000514707.1:n.803+7519T>A
ENST00000699953.1:c.*244T>A ENSP00000514708.1:n.*244T>A
ENST00000699954.1:c.*438T>A ENSP00000514709.1:n.*438T>A
ENST00000265849.12:c.1137T>A MANE Select ENSP00000265849.7:p.Asp379Glu
ENST00000642292.1:c.732T>A ENSP00000495524.1:p.Asp244Glu
ENST00000642456.1:c.732T>A ENSP00000493814.1:p.Asp244Glu
ENST00000643595.1:c.*536T>A ENSP00000494497.1:n.*536T>A
ENST00000644110.1:c.819T>A ENSP00000496392.1:p.Asp273Glu
ENST00000265849.11:c.1137T>A ENSP00000265849.7:p.Asp379Glu
ENST00000382321.5:c.804-6816T>A ENSP00000371758.4:n.804-6816T>A
ENST00000406569.7:n.1137T>A
ENST00000441476.6:c.819T>A ENSP00000392843.2:p.Asp273Glu
ENST00000469652.1:n.63-6902T>A
NM_000535.5:c.1137T>A , LRG_161t1:c.1137T>A NP_000526.1:p.Asp379Glu
NR_003085.2:n.1219T>A
XM_006715742.2:c.1131T>A XP_006715805.1:p.Asp377Glu
XM_006715744.2:c.204T>A XP_006715807.1:p.Asp68Glu
XM_011515427.1:c.1182T>A XP_011513729.1:p.Asp394Glu
XM_011515428.1:c.1033+2166T>A XP_011513730.1:n.1033+2166T>A
XM_011515429.1:c.819T>A XP_011513731.1:p.Asp273Glu
XM_011515430.1:c.819T>A XP_011513732.1:p.Asp273Glu
NM_000535.6:c.1137T>A NP_000526.2:p.Asp379Glu
NM_001322003.1:c.732T>A NP_001308932.1:p.Asp244Glu
NM_001322004.1:c.732T>A NP_001308933.1:p.Asp244Glu
NM_001322005.1:c.732T>A NP_001308934.1:p.Asp244Glu
NM_001322006.1:c.988+2166T>A NP_001308935.1:n.988+2166T>A
NM_001322007.1:c.819T>A NP_001308936.1:p.Asp273Glu
NM_001322008.1:c.819T>A NP_001308937.1:p.Asp273Glu
NM_001322009.1:c.732T>A NP_001308938.1:p.Asp244Glu
NM_001322010.1:c.583+2166T>A NP_001308939.1:n.583+2166T>A
NM_001322011.1:c.204T>A NP_001308940.1:p.Asp68Glu
NM_001322012.1:c.204T>A NP_001308941.1:p.Asp68Glu
NM_001322013.1:c.564T>A NP_001308942.1:p.Asp188Glu
NM_001322014.1:c.1137T>A NP_001308943.1:p.Asp379Glu
NM_001322015.1:c.828T>A NP_001308944.1:p.Asp276Glu
NR_136154.1:n.1224T>A
XM_006715744.4:c.204T>A XP_006715807.1:p.Asp68Glu
XM_017012342.2:c.204T>A XP_016867831.1:p.Asp68Glu
XM_024446800.1:c.583+2166T>A XP_024302568.1:n.583+2166T>A
NM_000535.7:c.1137T>A MANE Select NP_000526.2:p.Asp379Glu
NM_001322003.2:c.732T>A NP_001308932.1:p.Asp244Glu
NM_001322004.2:c.732T>A NP_001308933.1:p.Asp244Glu
NM_001322005.2:c.732T>A NP_001308934.1:p.Asp244Glu
NM_001322006.2:c.988+2166T>A NP_001308935.1:n.988+2166T>A
NM_001322008.2:c.819T>A NP_001308937.1:p.Asp273Glu
NM_001322009.2:c.732T>A NP_001308938.1:p.Asp244Glu
NM_001322010.2:c.583+2166T>A NP_001308939.1:n.583+2166T>A
NM_001322011.2:c.204T>A NP_001308940.1:p.Asp68Glu
NM_001322012.2:c.204T>A NP_001308941.1:p.Asp68Glu
NM_001322013.2:c.564T>A NP_001308942.1:p.Asp188Glu
NM_001322014.2:c.1137T>A NP_001308943.1:p.Asp379Glu
NM_001322015.2:c.828T>A NP_001308944.1:p.Asp276Glu
NM_001322007.2:c.819T>A NP_001308936.1:p.Asp273Glu