Canonical Allele Identifier: CA1685235948
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5989809_5989812delinsCCAG , CM000669.2:g.5989809_5989812delinsCCAG GRCh38
NC_000007.13:g.6029440_6029443delinsCCAG , CM000669.1:g.6029440_6029443delinsCCAG GRCh37
NC_000007.12:g.5995966_5995969delinsCCAG NCBI36
NG_008466.1:g.24295_24298delinsCTGG , LRG_161:g.24295_24298delinsCTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*528_*531delinsCTGG ENSP00000514615.2:n.*528_*531delinsCTGG
ENST00000699840.2:c.1129_1132delinsCTGG ENSP00000514638.2:p.Leu377=
ENST00000699930.2:c.1024_1027delinsCTGG ENSP00000514695.2:p.Leu342=
ENST00000406569.8:c.1132_1135delinsCTGG ENSP00000514464.1:p.Leu378=
ENST00000644110.2:c.*726_*729delinsCTGG ENSP00000496392.2:n.*726_*729delinsCTGG
ENST00000699752.1:c.988+2161_988+2164delinsCTGG ENSP00000514561.1:n.988+2161_988+2164deli...
ENST00000699753.1:c.*553_*556delinsCTGG ENSP00000514562.1:n.*553_*556delinsCTGG
ENST00000699754.1:c.934_937delinsCTGG ENSP00000514563.1:p.Leu312=
ENST00000699755.1:c.*531_*534delinsCTGG ENSP00000514564.1:n.*531_*534delinsCTGG
ENST00000699756.1:c.*719_*722delinsCTGG ENSP00000514565.1:n.*719_*722delinsCTGG
ENST00000699757.1:c.*389_*392delinsCTGG ENSP00000514566.1:n.*389_*392delinsCTGG
ENST00000699758.1:c.*389_*392delinsCTGG ENSP00000514567.1:n.*389_*392delinsCTGG
ENST00000699759.1:n.1986_1989delinsCTGG
ENST00000699760.1:c.814_817delinsCTGG ENSP00000514568.1:p.Leu272=
ENST00000699761.1:c.727_730delinsCTGG ENSP00000514569.1:p.Leu243=
ENST00000699762.1:c.559_562delinsCTGG ENSP00000514570.1:p.Leu187=
ENST00000699763.1:c.*222_*225delinsCTGG ENSP00000514571.1:n.*222_*225delinsCTGG
ENST00000699764.1:c.1132_1135delinsCTGG ENSP00000514572.1:p.Leu378=
ENST00000699765.1:c.*228_*231delinsCTGG ENSP00000514573.1:n.*228_*231delinsCTGG
ENST00000699766.1:c.1132_1135delinsCTGG ENSP00000514574.1:p.Leu378=
ENST00000699767.1:c.1132_1135delinsCTGG ENSP00000514575.1:p.Leu378=
ENST00000699768.1:c.1132_1135delinsCTGG ENSP00000514576.1:p.Leu378=
ENST00000699811.1:c.727_730delinsCTGG ENSP00000514614.1:p.Leu243=
ENST00000699813.1:n.1245_1248delinsCTGG
ENST00000699814.1:c.755_758delinsCTGG
ENST00000699815.1:c.*624_*627delinsCTGG ENSP00000514616.1:n.*624_*627delinsCTGG
ENST00000699816.1:c.727_730delinsCTGG ENSP00000514617.1:p.Leu243=
ENST00000699817.1:c.*726_*729delinsCTGG ENSP00000514618.1:n.*726_*729delinsCTGG
ENST00000699818.1:c.727_730delinsCTGG ENSP00000514619.1:p.Leu243=
ENST00000699819.1:c.*289_*292delinsCTGG ENSP00000514620.1:n.*289_*292delinsCTGG
ENST00000699820.1:c.1132_1135delinsCTGG ENSP00000514621.1:p.Leu378=
ENST00000699821.1:c.727_730delinsCTGG ENSP00000514622.1:p.Leu243=
ENST00000699822.1:c.*584_*587delinsCTGG ENSP00000514623.1:n.*584_*587delinsCTGG
ENST00000699823.1:c.727_730delinsCTGG ENSP00000514624.1:p.Leu243=
ENST00000699824.1:c.*635_*638delinsCTGG ENSP00000514625.1:n.*635_*638delinsCTGG
ENST00000699825.1:c.583+2161_583+2164delinsCTGG ENSP00000514626.1:n.583+2161_583+2164deli...
ENST00000699826.1:c.*531_*534delinsCTGG ENSP00000514627.1:n.*531_*534delinsCTGG
ENST00000699827.1:c.964_967delinsCTGG ENSP00000514628.1:p.Leu322=
ENST00000699828.1:c.*222_*225delinsCTGG ENSP00000514629.1:n.*222_*225delinsCTGG
ENST00000699829.1:c.*633_*636delinsCTGG ENSP00000514630.1:n.*633_*636delinsCTGG
ENST00000699830.1:c.*531_*534delinsCTGG ENSP00000514631.1:n.*531_*534delinsCTGG
ENST00000699833.1:n.2904_2907delinsCTGG
ENST00000699837.1:c.727_730delinsCTGG ENSP00000514635.1:p.Leu243=
ENST00000699838.1:c.*1032_*1035delinsCTGG ENSP00000514636.1:n.*1032_*1035delinsCTGG...
ENST00000699839.1:c.1318_1321delinsCTGG ENSP00000514637.1:p.Leu440=
ENST00000699840.1:c.1129_1132delinsCTGG ENSP00000514638.1:p.Leu377=
ENST00000699916.1:c.*389_*392delinsCTGG ENSP00000514684.1:n.*389_*392delinsCTGG
ENST00000699917.1:c.*581_*584delinsCTGG ENSP00000514685.1:n.*581_*584delinsCTGG
ENST00000699918.1:c.*633_*636delinsCTGG ENSP00000514686.1:n.*633_*636delinsCTGG
ENST00000699919.1:c.*719_*722delinsCTGG ENSP00000514687.1:n.*719_*722delinsCTGG
ENST00000699920.1:c.*768_*771delinsCTGG ENSP00000514688.1:n.*768_*771delinsCTGG
ENST00000699928.1:c.988+2161_988+2164delinsCTGG ENSP00000514693.1:n.988+2161_988+2164deli...
ENST00000699929.1:c.*433_*436delinsCTGG ENSP00000514694.1:n.*433_*436delinsCTGG
ENST00000699930.1:c.1024_1027delinsCTGG ENSP00000514695.1:p.Leu342=
ENST00000699931.1:n.2560_2563delinsCTGG
ENST00000699932.1:c.*350_*353delinsCTGG ENSP00000514696.1:n.*350_*353delinsCTGG
ENST00000699933.1:n.1112_1115delinsCTGG
ENST00000699951.1:c.*228_*231delinsCTGG ENSP00000514706.1:n.*228_*231delinsCTGG
ENST00000699952.1:c.803+7514_803+7517delinsCTGG ENSP00000514707.1:n.803+7514_803+7517deli...
ENST00000699953.1:c.*239_*242delinsCTGG ENSP00000514708.1:n.*239_*242delinsCTGG
ENST00000699954.1:c.*433_*436delinsCTGG ENSP00000514709.1:n.*433_*436delinsCTGG
ENST00000265849.12:c.1132_1135delinsCTGG MANE Select ENSP00000265849.7:p.Leu378=
ENST00000642292.1:c.727_730delinsCTGG ENSP00000495524.1:p.Leu243=
ENST00000642456.1:c.727_730delinsCTGG ENSP00000493814.1:p.Leu243=
ENST00000643595.1:c.*531_*534delinsCTGG ENSP00000494497.1:n.*531_*534delinsCTGG
ENST00000644110.1:c.814_817delinsCTGG ENSP00000496392.1:p.Leu272=
ENST00000265849.11:c.1132_1135delinsCTGG ENSP00000265849.7:p.Leu378=
ENST00000382321.5:c.804-6821_804-6818delinsCTGG ENSP00000371758.4:n.804-6821_804-6818deli...
ENST00000406569.7:n.1132_1135delinsCTGG
ENST00000441476.6:c.814_817delinsCTGG ENSP00000392843.2:p.Leu272=
ENST00000469652.1:n.63-6907_63-6904delinsCTGG
NM_000535.5:c.1132_1135delinsCTGG , LRG_161t1:c.1132_1135delinsCTGG NP_000526.1:p.Leu378=
NR_003085.2:n.1214_1217delinsCTGG
XM_006715742.2:c.1126_1129delinsCTGG XP_006715805.1:p.Leu376=
XM_006715744.2:c.199_202delinsCTGG XP_006715807.1:p.Leu67=
XM_011515427.1:c.1177_1180delinsCTGG XP_011513729.1:p.Leu393=
XM_011515428.1:c.1033+2161_1033+2164delinsCTGG XP_011513730.1:n.1033+2161_1033+2164delin...
XM_011515429.1:c.814_817delinsCTGG XP_011513731.1:p.Leu272=
XM_011515430.1:c.814_817delinsCTGG XP_011513732.1:p.Leu272=
NM_000535.6:c.1132_1135delinsCTGG NP_000526.2:p.Leu378=
NM_001322003.1:c.727_730delinsCTGG NP_001308932.1:p.Leu243=
NM_001322004.1:c.727_730delinsCTGG NP_001308933.1:p.Leu243=
NM_001322005.1:c.727_730delinsCTGG NP_001308934.1:p.Leu243=
NM_001322006.1:c.988+2161_988+2164delinsCTGG NP_001308935.1:n.988+2161_988+2164delinsC...
NM_001322007.1:c.814_817delinsCTGG NP_001308936.1:p.Leu272=
NM_001322008.1:c.814_817delinsCTGG NP_001308937.1:p.Leu272=
NM_001322009.1:c.727_730delinsCTGG NP_001308938.1:p.Leu243=
NM_001322010.1:c.583+2161_583+2164delinsCTGG NP_001308939.1:n.583+2161_583+2164delinsC...
NM_001322011.1:c.199_202delinsCTGG NP_001308940.1:p.Leu67=
NM_001322012.1:c.199_202delinsCTGG NP_001308941.1:p.Leu67=
NM_001322013.1:c.559_562delinsCTGG NP_001308942.1:p.Leu187=
NM_001322014.1:c.1132_1135delinsCTGG NP_001308943.1:p.Leu378=
NM_001322015.1:c.823_826delinsCTGG NP_001308944.1:p.Leu275=
NR_136154.1:n.1219_1222delinsCTGG
XM_006715744.4:c.199_202delinsCTGG XP_006715807.1:p.Leu67=
XM_017012342.2:c.199_202delinsCTGG XP_016867831.1:p.Leu67=
XM_024446800.1:c.583+2161_583+2164delinsCTGG XP_024302568.1:n.583+2161_583+2164delinsC...
NM_000535.7:c.1132_1135delinsCTGG MANE Select NP_000526.2:p.Leu378=
NM_001322003.2:c.727_730delinsCTGG NP_001308932.1:p.Leu243=
NM_001322004.2:c.727_730delinsCTGG NP_001308933.1:p.Leu243=
NM_001322005.2:c.727_730delinsCTGG NP_001308934.1:p.Leu243=
NM_001322006.2:c.988+2161_988+2164delinsCTGG NP_001308935.1:n.988+2161_988+2164delinsC...
NM_001322008.2:c.814_817delinsCTGG NP_001308937.1:p.Leu272=
NM_001322009.2:c.727_730delinsCTGG NP_001308938.1:p.Leu243=
NM_001322010.2:c.583+2161_583+2164delinsCTGG NP_001308939.1:n.583+2161_583+2164delinsC...
NM_001322011.2:c.199_202delinsCTGG NP_001308940.1:p.Leu67=
NM_001322012.2:c.199_202delinsCTGG NP_001308941.1:p.Leu67=
NM_001322013.2:c.559_562delinsCTGG NP_001308942.1:p.Leu187=
NM_001322014.2:c.1132_1135delinsCTGG NP_001308943.1:p.Leu378=
NM_001322015.2:c.823_826delinsCTGG NP_001308944.1:p.Leu275=
NM_001322007.2:c.814_817delinsCTGG NP_001308936.1:p.Leu272=