Canonical Allele Identifier: CA16618523
Gene: PMS2 HGNC NCBI

Linked Data

dbSNP Id: rs1064794905
gnomAD v3: 7-5997371-TCA-T
gnomAD v4: 7-5997371-TCA-T
MyVariant Identifiers: chr7:g.6037003_6037004del (hg19) chr7:g.5997372_5997373del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5997377_5997378del , CM000669.2:g.5997377_5997378del GRCh38
NC_000007.13:g.6037008_6037009del , CM000669.1:g.6037008_6037009del GRCh37
NC_000007.12:g.6003534_6003535del NCBI36
NG_008466.1:g.16734_16735del , LRG_161:g.16734_16735del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*299+1735_*299+1736del ENSP00000514615.2:n.*299+1735_*299+1736de...
ENST00000699840.2:c.753_754del ENSP00000514638.2:p.Cys251Ter
ENST00000699930.2:c.648_649del ENSP00000514695.2:p.Cys216Ter
ENST00000406569.8:c.756_757del ENSP00000514464.1:p.Cys252Ter
ENST00000644110.2:c.*350_*351del ENSP00000496392.2:n.*350_*351del
ENST00000699752.1:c.756_757del ENSP00000514561.1:p.Cys252Ter
ENST00000699753.1:c.*155_*156del ENSP00000514562.1:n.*155_*156del
ENST00000699754.1:c.705+1735_705+1736del ENSP00000514563.1:n.705+1735_705+1736del
ENST00000699755.1:c.*155_*156del ENSP00000514564.1:n.*155_*156del
ENST00000699756.1:c.*343_*344del ENSP00000514565.1:n.*343_*344del
ENST00000699757.1:c.*13_*14del ENSP00000514566.1:n.*13_*14del
ENST00000699758.1:c.*13_*14del ENSP00000514567.1:n.*13_*14del
ENST00000699759.1:n.828_829del
ENST00000699760.1:c.438_439del ENSP00000514568.1:p.Cys146Ter
ENST00000699761.1:c.351_352del ENSP00000514569.1:p.Cys117Ter
ENST00000699762.1:c.183_184del ENSP00000514570.1:p.Cys61Ter
ENST00000699763.1:c.351_352del ENSP00000514571.1:p.Cys117Ter
ENST00000699764.1:c.756_757del ENSP00000514572.1:p.Cys252Ter
ENST00000699765.1:c.438_439del ENSP00000514573.1:p.Cys146Ter
ENST00000699766.1:c.756_757del ENSP00000514574.1:p.Cys252Ter
ENST00000699767.1:c.756_757del ENSP00000514575.1:p.Cys252Ter
ENST00000699768.1:c.756_757del ENSP00000514576.1:p.Cys252Ter
ENST00000699811.1:c.351_352del ENSP00000514614.1:p.Cys117Ter
ENST00000699813.1:n.869_870del
ENST00000699814.1:c.526+1735_526+1736del
ENST00000699815.1:c.*257_*258del ENSP00000514616.1:n.*257_*258del
ENST00000699816.1:c.351_352del ENSP00000514617.1:p.Cys117Ter
ENST00000699817.1:c.*350_*351del ENSP00000514618.1:n.*350_*351del
ENST00000699818.1:c.351_352del ENSP00000514619.1:p.Cys117Ter
ENST00000699819.1:c.*13_*14del ENSP00000514620.1:n.*13_*14del
ENST00000699820.1:c.756_757del ENSP00000514621.1:p.Cys252Ter
ENST00000699821.1:c.351_352del ENSP00000514622.1:p.Cys117Ter
ENST00000699822.1:c.*208_*209del ENSP00000514623.1:n.*208_*209del
ENST00000699823.1:c.351_352del ENSP00000514624.1:p.Cys117Ter
ENST00000699824.1:c.*259_*260del ENSP00000514625.1:n.*259_*260del
ENST00000699825.1:c.351_352del ENSP00000514626.1:p.Cys117Ter
ENST00000699826.1:c.*155_*156del ENSP00000514627.1:n.*155_*156del
ENST00000699827.1:c.588_589del ENSP00000514628.1:p.Cys196Ter
ENST00000699828.1:c.756_757del ENSP00000514629.1:p.Cys252Ter
ENST00000699829.1:c.*257_*258del ENSP00000514630.1:n.*257_*258del
ENST00000699830.1:c.*155_*156del ENSP00000514631.1:n.*155_*156del
ENST00000699831.1:n.668_669del
ENST00000699832.1:n.1039_1040del
ENST00000699833.1:n.836_837del
ENST00000699837.1:c.351_352del ENSP00000514635.1:p.Cys117Ter
ENST00000699838.1:c.*656_*657del ENSP00000514636.1:n.*656_*657del
ENST00000699839.1:c.942_943del ENSP00000514637.1:p.Cys314Ter
ENST00000699840.1:c.753_754del ENSP00000514638.1:p.Cys251Ter
ENST00000699916.1:c.*13_*14del ENSP00000514684.1:n.*13_*14del
ENST00000699917.1:c.*205_*206del ENSP00000514685.1:n.*205_*206del
ENST00000699918.1:c.*257_*258del ENSP00000514686.1:n.*257_*258del
ENST00000699919.1:c.*343_*344del ENSP00000514687.1:n.*343_*344del
ENST00000699920.1:c.*392_*393del ENSP00000514688.1:n.*392_*393del
ENST00000699928.1:c.756_757del ENSP00000514693.1:p.Cys252Ter
ENST00000699929.1:c.*104+1735_*104+1736del ENSP00000514694.1:n.*104+1735_*104+1736de...
ENST00000699930.1:c.648_649del ENSP00000514695.1:p.Cys216Ter
ENST00000699931.1:n.867_868del
ENST00000699932.1:c.756_757del ENSP00000514696.1:p.Cys252Ter
ENST00000699933.1:n.836_837del
ENST00000699951.1:c.756_757del ENSP00000514706.1:p.Cys252Ter
ENST00000699952.1:c.756_757del ENSP00000514707.1:p.Cys252Ter
ENST00000699953.1:c.705+1735_705+1736del ENSP00000514708.1:n.705+1735_705+1736del
ENST00000699954.1:c.*104+1735_*104+1736del ENSP00000514709.1:n.*104+1735_*104+1736de...
ENST00000265849.12:c.756_757del MANE Select ENSP00000265849.7:p.Cys252Ter
ENST00000642292.1:c.351_352del ENSP00000495524.1:p.Cys117Ter
ENST00000642456.1:c.351_352del ENSP00000493814.1:p.Cys117Ter
ENST00000643595.1:c.*155_*156del ENSP00000494497.1:n.*155_*156del
ENST00000644110.1:c.438_439del ENSP00000496392.1:p.Cys146Ter
ENST00000265849.11:c.756_757del ENSP00000265849.7:p.Cys252Ter
ENST00000382321.5:c.756_757del ENSP00000371758.4:p.Cys252Ter
ENST00000406569.7:n.756_757del
ENST00000441476.6:c.438_439del ENSP00000392843.2:p.Cys146Ter
ENST00000469652.1:n.62+8620_62+8621del
NM_000535.5:c.756_757del , LRG_161t1:c.756_757del NP_000526.1:p.Cys252Ter
NR_003085.2:n.838_839del
XM_006715742.2:c.750_751del XP_006715805.1:p.Cys250Ter
XM_011515427.1:c.801_802del XP_011513729.1:p.Cys267Ter
XM_011515428.1:c.801_802del XP_011513730.1:p.Cys267Ter
XM_011515429.1:c.438_439del XP_011513731.1:p.Cys146Ter
XM_011515430.1:c.438_439del XP_011513732.1:p.Cys146Ter
NM_000535.6:c.756_757del NP_000526.2:p.Cys252Ter
NM_001322003.1:c.351_352del NP_001308932.1:p.Cys117Ter
NM_001322004.1:c.351_352del NP_001308933.1:p.Cys117Ter
NM_001322005.1:c.351_352del NP_001308934.1:p.Cys117Ter
NM_001322006.1:c.756_757del NP_001308935.1:p.Cys252Ter
NM_001322007.1:c.438_439del NP_001308936.1:p.Cys146Ter
NM_001322008.1:c.438_439del NP_001308937.1:p.Cys146Ter
NM_001322009.1:c.351_352del NP_001308938.1:p.Cys117Ter
NM_001322010.1:c.351_352del NP_001308939.1:p.Cys117Ter
NM_001322011.1:c.-178_-177del NP_001308940.1:n.-178_-177del
NM_001322012.1:c.-178_-177del NP_001308941.1:n.-178_-177del
NM_001322013.1:c.183_184del NP_001308942.1:p.Cys61Ter
NM_001322014.1:c.756_757del NP_001308943.1:p.Cys252Ter
NM_001322015.1:c.447_448del NP_001308944.1:p.Cys149Ter
NR_136154.1:n.843_844del
XM_017012342.2:c.-78_-77del XP_016867831.1:n.-78_-77del
XM_024446800.1:c.351_352del XP_024302568.1:p.Cys117Ter
NM_000535.7:c.756_757del MANE Select NP_000526.2:p.Cys252Ter
NM_001322003.2:c.351_352del NP_001308932.1:p.Cys117Ter
NM_001322004.2:c.351_352del NP_001308933.1:p.Cys117Ter
NM_001322005.2:c.351_352del NP_001308934.1:p.Cys117Ter
NM_001322006.2:c.756_757del NP_001308935.1:p.Cys252Ter
NM_001322008.2:c.438_439del NP_001308937.1:p.Cys146Ter
NM_001322009.2:c.351_352del NP_001308938.1:p.Cys117Ter
NM_001322010.2:c.351_352del NP_001308939.1:p.Cys117Ter
NM_001322011.2:c.-178_-177del NP_001308940.1:n.-178_-177del
NM_001322012.2:c.-178_-177del NP_001308941.1:n.-178_-177del
NM_001322013.2:c.183_184del NP_001308942.1:p.Cys61Ter
NM_001322014.2:c.756_757del NP_001308943.1:p.Cys252Ter
NM_001322015.2:c.447_448del NP_001308944.1:p.Cys149Ter
NM_001322007.2:c.438_439del NP_001308936.1:p.Cys146Ter
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