Canonical Allele Identifier: CA043156
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411076
dbSNP Id: rs772659239
gnomAD v2: 7-6027035-A-G
gnomAD v3: 7-5987404-A-G
gnomAD v4: 7-5987404-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987404A>G , CM000669.2:g.5987404A>G GRCh38
NC_000007.13:g.6027035A>G , CM000669.1:g.6027035A>G GRCh37
NC_000007.12:g.5993561A>G NCBI36
NG_008466.1:g.26703T>C , LRG_161:g.26703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*757T>C ENSP00000514615.2:n.*757T>C
ENST00000699840.2:c.1358T>C ENSP00000514638.2:p.Leu453Pro
ENST00000699930.2:c.1253T>C ENSP00000514695.2:p.Leu418Pro
ENST00000406569.8:c.1361T>C ENSP00000514464.1:p.Leu454Pro
ENST00000644110.2:c.*955T>C ENSP00000496392.2:n.*955T>C
ENST00000699752.1:c.1205T>C ENSP00000514561.1:p.Leu402Pro
ENST00000699753.1:c.*782T>C ENSP00000514562.1:n.*782T>C
ENST00000699754.1:c.1163T>C ENSP00000514563.1:p.Leu388Pro
ENST00000699755.1:c.*760T>C ENSP00000514564.1:n.*760T>C
ENST00000699756.1:c.*948T>C ENSP00000514565.1:n.*948T>C
ENST00000699757.1:c.*618T>C ENSP00000514566.1:n.*618T>C
ENST00000699758.1:c.*618T>C ENSP00000514567.1:n.*618T>C
ENST00000699759.1:n.2215T>C
ENST00000699760.1:c.1043T>C ENSP00000514568.1:p.Leu348Pro
ENST00000699761.1:c.956T>C ENSP00000514569.1:p.Leu319Pro
ENST00000699762.1:c.788T>C ENSP00000514570.1:p.Leu263Pro
ENST00000699763.1:c.*451T>C ENSP00000514571.1:n.*451T>C
ENST00000699764.1:c.1361T>C ENSP00000514572.1:p.Leu454Pro
ENST00000699765.1:c.*457T>C ENSP00000514573.1:n.*457T>C
ENST00000699766.1:c.1361T>C ENSP00000514574.1:p.Leu454Pro
ENST00000699767.1:c.1361T>C ENSP00000514575.1:p.Leu454Pro
ENST00000699768.1:c.1361T>C ENSP00000514576.1:p.Leu454Pro
ENST00000699811.1:c.956T>C ENSP00000514614.1:p.Leu319Pro
ENST00000699813.1:n.1474T>C
ENST00000699814.1:c.984T>C
ENST00000699815.1:c.*892T>C ENSP00000514616.1:n.*892T>C
ENST00000699816.1:c.*251T>C ENSP00000514617.1:n.*251T>C
ENST00000699817.1:c.*955T>C ENSP00000514618.1:n.*955T>C
ENST00000699818.1:c.956T>C ENSP00000514619.1:p.Leu319Pro
ENST00000699819.1:c.*518T>C ENSP00000514620.1:n.*518T>C
ENST00000699820.1:c.1144+2396T>C ENSP00000514621.1:n.1144+2396T>C
ENST00000699821.1:c.956T>C ENSP00000514622.1:p.Leu319Pro
ENST00000699822.1:c.*813T>C ENSP00000514623.1:n.*813T>C
ENST00000699823.1:c.956T>C ENSP00000514624.1:p.Leu319Pro
ENST00000699824.1:c.*864T>C ENSP00000514625.1:n.*864T>C
ENST00000699825.1:c.800T>C ENSP00000514626.1:p.Leu267Pro
ENST00000699826.1:c.*760T>C ENSP00000514627.1:n.*760T>C
ENST00000699827.1:c.1193T>C ENSP00000514628.1:p.Leu398Pro
ENST00000699828.1:c.*451T>C ENSP00000514629.1:n.*451T>C
ENST00000699833.1:n.3133T>C
ENST00000699837.1:c.956T>C ENSP00000514635.1:p.Leu319Pro
ENST00000699838.1:c.*1261T>C ENSP00000514636.1:n.*1261T>C
ENST00000699839.1:c.1547T>C ENSP00000514637.1:p.Leu516Pro
ENST00000699916.1:c.*618T>C ENSP00000514684.1:n.*618T>C
ENST00000699917.1:c.*810T>C ENSP00000514685.1:n.*810T>C
ENST00000699918.1:c.*862T>C ENSP00000514686.1:n.*862T>C
ENST00000699919.1:c.*948T>C ENSP00000514687.1:n.*948T>C
ENST00000699920.1:c.*997T>C ENSP00000514688.1:n.*997T>C
ENST00000699928.1:c.989-4413T>C ENSP00000514693.1:n.989-4413T>C
ENST00000699929.1:c.*662T>C ENSP00000514694.1:n.*662T>C
ENST00000699930.1:c.1253T>C ENSP00000514695.1:p.Leu418Pro
ENST00000699931.1:n.2789T>C
ENST00000699951.1:c.*457T>C ENSP00000514706.1:n.*457T>C
ENST00000699952.1:c.803+9922T>C ENSP00000514707.1:n.803+9922T>C
ENST00000699953.1:c.*468T>C ENSP00000514708.1:n.*468T>C
ENST00000699954.1:c.*662T>C ENSP00000514709.1:n.*662T>C
ENST00000265849.12:c.1361T>C MANE Select ENSP00000265849.7:p.Leu454Pro
ENST00000642292.1:c.956T>C ENSP00000495524.1:p.Leu319Pro
ENST00000642456.1:c.956T>C ENSP00000493814.1:p.Leu319Pro
ENST00000643595.1:c.*760T>C ENSP00000494497.1:n.*760T>C
ENST00000644110.1:c.1043T>C ENSP00000496392.1:p.Leu348Pro
ENST00000265849.11:c.1361T>C ENSP00000265849.7:p.Leu454Pro
ENST00000382321.5:c.804-4413T>C ENSP00000371758.4:n.804-4413T>C
ENST00000406569.7:n.1361T>C
ENST00000441476.6:c.1043T>C ENSP00000392843.2:p.Leu348Pro
ENST00000469652.1:n.63-4499T>C
NM_000535.5:c.1361T>C , LRG_161t1:c.1361T>C NP_000526.1:p.Leu454Pro
NR_003085.2:n.1443T>C
XM_006715742.2:c.1355T>C XP_006715805.1:p.Leu452Pro
XM_006715744.2:c.428T>C XP_006715807.1:p.Leu143Pro
XM_011515427.1:c.1406T>C XP_011513729.1:p.Leu469Pro
XM_011515428.1:c.1250T>C XP_011513730.1:p.Leu417Pro
XM_011515429.1:c.1043T>C XP_011513731.1:p.Leu348Pro
XM_011515430.1:c.1043T>C XP_011513732.1:p.Leu348Pro
NM_000535.6:c.1361T>C NP_000526.2:p.Leu454Pro
NM_001322003.1:c.956T>C NP_001308932.1:p.Leu319Pro
NM_001322004.1:c.956T>C NP_001308933.1:p.Leu319Pro
NM_001322005.1:c.956T>C NP_001308934.1:p.Leu319Pro
NM_001322006.1:c.1205T>C NP_001308935.1:p.Leu402Pro
NM_001322007.1:c.1043T>C NP_001308936.1:p.Leu348Pro
NM_001322008.1:c.1043T>C NP_001308937.1:p.Leu348Pro
NM_001322009.1:c.956T>C NP_001308938.1:p.Leu319Pro
NM_001322010.1:c.800T>C NP_001308939.1:p.Leu267Pro
NM_001322011.1:c.428T>C NP_001308940.1:p.Leu143Pro
NM_001322012.1:c.428T>C NP_001308941.1:p.Leu143Pro
NM_001322013.1:c.788T>C NP_001308942.1:p.Leu263Pro
NM_001322014.1:c.1361T>C NP_001308943.1:p.Leu454Pro
NM_001322015.1:c.1052T>C NP_001308944.1:p.Leu351Pro
NR_136154.1:n.1448T>C
XM_006715744.4:c.428T>C XP_006715807.1:p.Leu143Pro
XM_017012342.2:c.428T>C XP_016867831.1:p.Leu143Pro
XM_024446800.1:c.800T>C XP_024302568.1:p.Leu267Pro
NM_000535.7:c.1361T>C MANE Select NP_000526.2:p.Leu454Pro
NM_001322003.2:c.956T>C NP_001308932.1:p.Leu319Pro
NM_001322004.2:c.956T>C NP_001308933.1:p.Leu319Pro
NM_001322005.2:c.956T>C NP_001308934.1:p.Leu319Pro
NM_001322006.2:c.1205T>C NP_001308935.1:p.Leu402Pro
NM_001322008.2:c.1043T>C NP_001308937.1:p.Leu348Pro
NM_001322009.2:c.956T>C NP_001308938.1:p.Leu319Pro
NM_001322010.2:c.800T>C NP_001308939.1:p.Leu267Pro
NM_001322011.2:c.428T>C NP_001308940.1:p.Leu143Pro
NM_001322012.2:c.428T>C NP_001308941.1:p.Leu143Pro
NM_001322013.2:c.788T>C NP_001308942.1:p.Leu263Pro
NM_001322014.2:c.1361T>C NP_001308943.1:p.Leu454Pro
NM_001322015.2:c.1052T>C NP_001308944.1:p.Leu351Pro
NM_001322007.2:c.1043T>C NP_001308936.1:p.Leu348Pro