Canonical Allele Identifier: CA1685236244
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5989850C= , CM000669.2:g.5989850C= GRCh38
NC_000007.13:g.6029481C= , CM000669.1:g.6029481C= GRCh37
NC_000007.12:g.5996007C= NCBI36
NG_008466.1:g.24257G= , LRG_161:g.24257G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*490G= ENSP00000514615.2:n.*490G=
ENST00000699840.2:c.1091G= ENSP00000514638.2:p.Ser364=
ENST00000699930.2:c.986G= ENSP00000514695.2:p.Ser329=
ENST00000406569.8:c.1094G= ENSP00000514464.1:p.Ser365=
ENST00000644110.2:c.*688G= ENSP00000496392.2:n.*688G=
ENST00000699752.1:c.988+2123G= ENSP00000514561.1:n.988+2123G=
ENST00000699753.1:c.*515G= ENSP00000514562.1:n.*515G=
ENST00000699754.1:c.896G= ENSP00000514563.1:p.Ser299=
ENST00000699755.1:c.*493G= ENSP00000514564.1:n.*493G=
ENST00000699756.1:c.*681G= ENSP00000514565.1:n.*681G=
ENST00000699757.1:c.*351G= ENSP00000514566.1:n.*351G=
ENST00000699758.1:c.*351G= ENSP00000514567.1:n.*351G=
ENST00000699759.1:n.1948G=
ENST00000699760.1:c.776G= ENSP00000514568.1:p.Ser259=
ENST00000699761.1:c.689G= ENSP00000514569.1:p.Ser230=
ENST00000699762.1:c.521G= ENSP00000514570.1:p.Ser174=
ENST00000699763.1:c.*184G= ENSP00000514571.1:n.*184G=
ENST00000699764.1:c.1094G= ENSP00000514572.1:p.Ser365=
ENST00000699765.1:c.*190G= ENSP00000514573.1:n.*190G=
ENST00000699766.1:c.1094G= ENSP00000514574.1:p.Ser365=
ENST00000699767.1:c.1094G= ENSP00000514575.1:p.Ser365=
ENST00000699768.1:c.1094G= ENSP00000514576.1:p.Ser365=
ENST00000699811.1:c.689G= ENSP00000514614.1:p.Ser230=
ENST00000699813.1:n.1207G=
ENST00000699814.1:c.717G=
ENST00000699815.1:c.*586G= ENSP00000514616.1:n.*586G=
ENST00000699816.1:c.689G= ENSP00000514617.1:p.Ser230=
ENST00000699817.1:c.*688G= ENSP00000514618.1:n.*688G=
ENST00000699818.1:c.689G= ENSP00000514619.1:p.Ser230=
ENST00000699819.1:c.*251G= ENSP00000514620.1:n.*251G=
ENST00000699820.1:c.1094G= ENSP00000514621.1:p.Ser365=
ENST00000699821.1:c.689G= ENSP00000514622.1:p.Ser230=
ENST00000699822.1:c.*546G= ENSP00000514623.1:n.*546G=
ENST00000699823.1:c.689G= ENSP00000514624.1:p.Ser230=
ENST00000699824.1:c.*597G= ENSP00000514625.1:n.*597G=
ENST00000699825.1:c.583+2123G= ENSP00000514626.1:n.583+2123G=
ENST00000699826.1:c.*493G= ENSP00000514627.1:n.*493G=
ENST00000699827.1:c.926G= ENSP00000514628.1:p.Ser309=
ENST00000699828.1:c.*184G= ENSP00000514629.1:n.*184G=
ENST00000699829.1:c.*595G= ENSP00000514630.1:n.*595G=
ENST00000699830.1:c.*493G= ENSP00000514631.1:n.*493G=
ENST00000699833.1:n.2866G=
ENST00000699837.1:c.689G= ENSP00000514635.1:p.Ser230=
ENST00000699838.1:c.*994G= ENSP00000514636.1:n.*994G=
ENST00000699839.1:c.1280G= ENSP00000514637.1:p.Ser427=
ENST00000699840.1:c.1091G= ENSP00000514638.1:p.Ser364=
ENST00000699916.1:c.*351G= ENSP00000514684.1:n.*351G=
ENST00000699917.1:c.*543G= ENSP00000514685.1:n.*543G=
ENST00000699918.1:c.*595G= ENSP00000514686.1:n.*595G=
ENST00000699919.1:c.*681G= ENSP00000514687.1:n.*681G=
ENST00000699920.1:c.*730G= ENSP00000514688.1:n.*730G=
ENST00000699928.1:c.988+2123G= ENSP00000514693.1:n.988+2123G=
ENST00000699929.1:c.*395G= ENSP00000514694.1:n.*395G=
ENST00000699930.1:c.986G= ENSP00000514695.1:p.Ser329=
ENST00000699931.1:n.2522G=
ENST00000699932.1:c.*312G= ENSP00000514696.1:n.*312G=
ENST00000699933.1:n.1074G=
ENST00000699951.1:c.*190G= ENSP00000514706.1:n.*190G=
ENST00000699952.1:c.803+7476G= ENSP00000514707.1:n.803+7476G=
ENST00000699953.1:c.*201G= ENSP00000514708.1:n.*201G=
ENST00000699954.1:c.*395G= ENSP00000514709.1:n.*395G=
ENST00000265849.12:c.1094G= MANE Select ENSP00000265849.7:p.Ser365=
ENST00000642292.1:c.689G= ENSP00000495524.1:p.Ser230=
ENST00000642456.1:c.689G= ENSP00000493814.1:p.Ser230=
ENST00000643595.1:c.*493G= ENSP00000494497.1:n.*493G=
ENST00000644110.1:c.776G= ENSP00000496392.1:p.Ser259=
ENST00000265849.11:c.1094G= ENSP00000265849.7:p.Ser365=
ENST00000382321.5:c.804-6859G= ENSP00000371758.4:n.804-6859G=
ENST00000406569.7:n.1094G=
ENST00000441476.6:c.776G= ENSP00000392843.2:p.Ser259=
ENST00000469652.1:n.63-6945G=
NM_000535.5:c.1094G= , LRG_161t1:c.1094G= NP_000526.1:p.Ser365=
NR_003085.2:n.1176G=
XM_006715742.2:c.1088G= XP_006715805.1:p.Ser363=
XM_006715744.2:c.161G= XP_006715807.1:p.Ser54=
XM_011515427.1:c.1139G= XP_011513729.1:p.Ser380=
XM_011515428.1:c.1033+2123G= XP_011513730.1:n.1033+2123G=
XM_011515429.1:c.776G= XP_011513731.1:p.Ser259=
XM_011515430.1:c.776G= XP_011513732.1:p.Ser259=
NM_000535.6:c.1094G= NP_000526.2:p.Ser365=
NM_001322003.1:c.689G= NP_001308932.1:p.Ser230=
NM_001322004.1:c.689G= NP_001308933.1:p.Ser230=
NM_001322005.1:c.689G= NP_001308934.1:p.Ser230=
NM_001322006.1:c.988+2123G= NP_001308935.1:n.988+2123G=
NM_001322007.1:c.776G= NP_001308936.1:p.Ser259=
NM_001322008.1:c.776G= NP_001308937.1:p.Ser259=
NM_001322009.1:c.689G= NP_001308938.1:p.Ser230=
NM_001322010.1:c.583+2123G= NP_001308939.1:n.583+2123G=
NM_001322011.1:c.161G= NP_001308940.1:p.Ser54=
NM_001322012.1:c.161G= NP_001308941.1:p.Ser54=
NM_001322013.1:c.521G= NP_001308942.1:p.Ser174=
NM_001322014.1:c.1094G= NP_001308943.1:p.Ser365=
NM_001322015.1:c.785G= NP_001308944.1:p.Ser262=
NR_136154.1:n.1181G=
XM_006715744.4:c.161G= XP_006715807.1:p.Ser54=
XM_017012342.2:c.161G= XP_016867831.1:p.Ser54=
XM_024446800.1:c.583+2123G= XP_024302568.1:n.583+2123G=
NM_000535.7:c.1094G= MANE Select NP_000526.2:p.Ser365=
NM_001322003.2:c.689G= NP_001308932.1:p.Ser230=
NM_001322004.2:c.689G= NP_001308933.1:p.Ser230=
NM_001322005.2:c.689G= NP_001308934.1:p.Ser230=
NM_001322006.2:c.988+2123G= NP_001308935.1:n.988+2123G=
NM_001322008.2:c.776G= NP_001308937.1:p.Ser259=
NM_001322009.2:c.689G= NP_001308938.1:p.Ser230=
NM_001322010.2:c.583+2123G= NP_001308939.1:n.583+2123G=
NM_001322011.2:c.161G= NP_001308940.1:p.Ser54=
NM_001322012.2:c.161G= NP_001308941.1:p.Ser54=
NM_001322013.2:c.521G= NP_001308942.1:p.Ser174=
NM_001322014.2:c.1094G= NP_001308943.1:p.Ser365=
NM_001322015.2:c.785G= NP_001308944.1:p.Ser262=
NM_001322007.2:c.776G= NP_001308936.1:p.Ser259=