Canonical Allele Identifier: CA1139659969
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 993143
ClinVar RCV Id: RCV001284323 RCV002430068 RCV003449835 RCV004004942
dbSNP Id: rs1785419483
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6004007_6004008insTGAAACTT , CM000669.2:g.6004007_6004008insTGAAACTT GRCh38
NC_000007.13:g.6043638_6043639insTGAAACTT , CM000669.1:g.6043638_6043639insTGAAACTT GRCh37
NC_000007.12:g.6010164_6010165insTGAAACTT NCBI36
NG_008466.1:g.10099_10100insAAGTTTCA , LRG_161:g.10099_10100insAAGTTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.214_215insAAGTTTCA ENSP00000514615.2:p.Gly72GlufsTer7
ENST00000699840.2:c.214_215insAAGTTTCA ENSP00000514638.2:p.Gly72GlufsTer7
ENST00000699930.2:c.214_215insAAGTTTCA ENSP00000514695.2:p.Gly72GlufsTer7
ENST00000406569.8:c.214_215insAAGTTTCA ENSP00000514464.1:p.Gly72GlufsTer7
ENST00000415839.3:n.279_280insAAGTTTCA
ENST00000644110.2:c.214_215insAAGTTTCA ENSP00000496392.2:p.Gly72GlufsTer7
ENST00000699752.1:c.214_215insAAGTTTCA ENSP00000514561.1:p.Gly72GlufsTer7
ENST00000699753.1:c.-192_-191insAAGTTTCA ENSP00000514562.1:n.-192_-191insAAGTTTCA
ENST00000699754.1:c.214_215insAAGTTTCA ENSP00000514563.1:p.Gly72GlufsTer7
ENST00000699755.1:c.-192_-191insAAGTTTCA ENSP00000514564.1:n.-192_-191insAAGTTTCA
ENST00000699756.1:c.214_215insAAGTTTCA ENSP00000514565.1:p.Gly72GlufsTer7
ENST00000699757.1:c.-2_-1insAAGTTTCA ENSP00000514566.1:n.-2_-1insAAGTTTCA
ENST00000699758.1:c.214_215insAAGTTTCA ENSP00000514567.1:p.Gly72GlufsTer7
ENST00000699759.1:n.286_287insAAGTTTCA
ENST00000699760.1:c.-2_-1insAAGTTTCA ENSP00000514568.1:n.-2_-1insAAGTTTCA
ENST00000699761.1:c.-139_-138insAAGTTTCA ENSP00000514569.1:n.-139_-138insAAGTTTCA
ENST00000699762.1:c.-192_-191insAAGTTTCA ENSP00000514570.1:n.-192_-191insAAGTTTCA
ENST00000699763.1:c.-192_-191insAAGTTTCA ENSP00000514571.1:n.-192_-191insAAGTTTCA
ENST00000699764.1:c.214_215insAAGTTTCA ENSP00000514572.1:p.Gly72GlufsTer7
ENST00000699765.1:c.-2_-1insAAGTTTCA ENSP00000514573.1:n.-2_-1insAAGTTTCA
ENST00000699766.1:c.214_215insAAGTTTCA ENSP00000514574.1:p.Gly72GlufsTer7
ENST00000699767.1:c.214_215insAAGTTTCA ENSP00000514575.1:p.Gly72GlufsTer7
ENST00000699768.1:c.214_215insAAGTTTCA ENSP00000514576.1:p.Gly72GlufsTer7
ENST00000699769.1:n.294_295insAAGTTTCA
ENST00000699770.1:n.270_271insAAGTTTCA
ENST00000699811.1:c.-367_-366insAAGTTTCA ENSP00000514614.1:n.-367_-366insAAGTTTCA
ENST00000699814.1:c.138_139insAAGTTTCA
ENST00000699815.1:c.-192_-191insAAGTTTCA ENSP00000514616.1:n.-192_-191insAAGTTTCA
ENST00000699816.1:c.-192_-191insAAGTTTCA ENSP00000514617.1:n.-192_-191insAAGTTTCA
ENST00000699817.1:c.164-1372_164-1371insAAGTTTCA ENSP00000514618.1:n.164-1372_164-1371insAAGTTTCA
ENST00000699818.1:c.-192_-191insAAGTTTCA ENSP00000514619.1:n.-192_-191insAAGTTTCA
ENST00000699819.1:c.-205_-204insAAGTTTCA ENSP00000514620.1:n.-205_-204insAAGTTTCA
ENST00000699820.1:c.214_215insAAGTTTCA ENSP00000514621.1:p.Gly72GlufsTer7
ENST00000699821.1:c.-192_-191insAAGTTTCA ENSP00000514622.1:n.-192_-191insAAGTTTCA
ENST00000699822.1:c.-192_-191insAAGTTTCA ENSP00000514623.1:n.-192_-191insAAGTTTCA
ENST00000699823.1:c.-139_-138insAAGTTTCA ENSP00000514624.1:n.-139_-138insAAGTTTCA
ENST00000699824.1:c.214_215insAAGTTTCA ENSP00000514625.1:p.Gly72GlufsTer7
ENST00000699825.1:c.-192_-191insAAGTTTCA ENSP00000514626.1:n.-192_-191insAAGTTTCA
ENST00000699826.1:c.-192_-191insAAGTTTCA ENSP00000514627.1:n.-192_-191insAAGTTTCA
ENST00000699827.1:c.214_215insAAGTTTCA ENSP00000514628.1:p.Gly72GlufsTer7
ENST00000699828.1:c.214_215insAAGTTTCA ENSP00000514629.1:p.Gly72GlufsTer7
ENST00000699829.1:c.-139_-138insAAGTTTCA ENSP00000514630.1:n.-139_-138insAAGTTTCA
ENST00000699830.1:c.214_215insAAGTTTCA ENSP00000514631.1:p.Gly72GlufsTer7
ENST00000699831.1:n.175_176insAAGTTTCA
ENST00000699833.1:n.294_295insAAGTTTCA
ENST00000699834.1:n.420_421insAAGTTTCA
ENST00000699837.1:c.-89_-88insAAGTTTCA ENSP00000514635.1:n.-89_-88insAAGTTTCA
ENST00000699838.1:c.*114_*115insAAGTTTCA ENSP00000514636.1:n.*114_*115insAAGTTTCA
ENST00000699839.1:c.400_401insAAGTTTCA ENSP00000514637.1:p.Gly134GlufsTer7
ENST00000699840.1:c.214_215insAAGTTTCA ENSP00000514638.1:p.Gly72GlufsTer7
ENST00000699916.1:c.-192_-191insAAGTTTCA ENSP00000514684.1:n.-192_-191insAAGTTTCA
ENST00000699917.1:c.214_215insAAGTTTCA ENSP00000514685.1:p.Gly72GlufsTer7
ENST00000699918.1:c.214_215insAAGTTTCA ENSP00000514686.1:p.Gly72GlufsTer7
ENST00000699919.1:c.214_215insAAGTTTCA ENSP00000514687.1:p.Gly72GlufsTer7
ENST00000699920.1:c.214_215insAAGTTTCA ENSP00000514688.1:p.Gly72GlufsTer7
ENST00000699928.1:c.214_215insAAGTTTCA ENSP00000514693.1:p.Gly72GlufsTer7
ENST00000699929.1:c.214_215insAAGTTTCA ENSP00000514694.1:p.Gly72GlufsTer7
ENST00000699930.1:c.214_215insAAGTTTCA ENSP00000514695.1:p.Gly72GlufsTer7
ENST00000699931.1:n.325_326insAAGTTTCA
ENST00000699932.1:c.214_215insAAGTTTCA ENSP00000514696.1:p.Gly72GlufsTer7
ENST00000699933.1:n.294_295insAAGTTTCA
ENST00000699951.1:c.214_215insAAGTTTCA ENSP00000514706.1:p.Gly72GlufsTer7
ENST00000699952.1:c.214_215insAAGTTTCA ENSP00000514707.1:p.Gly72GlufsTer7
ENST00000699953.1:c.214_215insAAGTTTCA ENSP00000514708.1:p.Gly72GlufsTer7
ENST00000699954.1:c.214_215insAAGTTTCA ENSP00000514709.1:p.Gly72GlufsTer7
ENST00000703409.1:n.413_414insAAGTTTCA
ENST00000265849.12:c.214_215insAAGTTTCA MANE Select ENSP00000265849.7:p.Gly72GlufsTer7
ENST00000642292.1:c.-192_-191insAAGTTTCA ENSP00000495524.1:n.-192_-191insAAGTTTCA
ENST00000642456.1:c.-192_-191insAAGTTTCA ENSP00000493814.1:n.-192_-191insAAGTTTCA
ENST00000643595.1:c.214_215insAAGTTTCA ENSP00000494497.1:p.Gly72GlufsTer7
ENST00000265849.11:c.214_215insAAGTTTCA ENSP00000265849.7:p.Gly72GlufsTer7
ENST00000380416.5:n.293_294insAAGTTTCA
ENST00000382321.5:c.214_215insAAGTTTCA ENSP00000371758.4:p.Gly72GlufsTer7
ENST00000406569.7:n.214_215insAAGTTTCA
ENST00000415839.2:n.226_227insAAGTTTCA
ENST00000441476.6:c.-2_-1insAAGTTTCA ENSP00000392843.2:n.-2_-1insAAGTTTCA
ENST00000469652.1:n.62+1985_62+1986insAAGTTTCA
NM_000535.5:c.214_215insAAGTTTCA , LRG_161t1:c.214_215insAAGTTTCA NP_000526.1:p.Gly72GlufsTer7
NR_003085.2:n.296_297insAAGTTTCA
XM_006715742.2:c.208_209insAAGTTTCA XP_006715805.1:p.Gly70GlufsTer7
XM_011515427.1:c.259_260insAAGTTTCA XP_011513729.1:p.Gly87GlufsTer7
XM_011515428.1:c.259_260insAAGTTTCA XP_011513730.1:p.Gly87GlufsTer7
XM_011515429.1:c.-2_-1insAAGTTTCA XP_011513731.1:n.-2_-1insAAGTTTCA
XM_011515430.1:c.-2_-1insAAGTTTCA XP_011513732.1:n.-2_-1insAAGTTTCA
NM_000535.6:c.214_215insAAGTTTCA NP_000526.2:p.Gly72GlufsTer7
NM_001322003.1:c.-192_-191insAAGTTTCA NP_001308932.1:n.-192_-191insAAGTTTCA
NM_001322004.1:c.-192_-191insAAGTTTCA NP_001308933.1:n.-192_-191insAAGTTTCA
NM_001322005.1:c.-192_-191insAAGTTTCA NP_001308934.1:n.-192_-191insAAGTTTCA
NM_001322006.1:c.214_215insAAGTTTCA NP_001308935.1:p.Gly72GlufsTer7
NM_001322007.1:c.-2_-1insAAGTTTCA NP_001308936.1:n.-2_-1insAAGTTTCA
NM_001322008.1:c.-2_-1insAAGTTTCA NP_001308937.1:n.-2_-1insAAGTTTCA
NM_001322009.1:c.-192_-191insAAGTTTCA NP_001308938.1:n.-192_-191insAAGTTTCA
NM_001322010.1:c.-192_-191insAAGTTTCA NP_001308939.1:n.-192_-191insAAGTTTCA
NM_001322011.1:c.-671_-670insAAGTTTCA NP_001308940.1:n.-671_-670insAAGTTTCA
NM_001322012.1:c.-671_-670insAAGTTTCA NP_001308941.1:n.-671_-670insAAGTTTCA
NM_001322013.1:c.-192_-191insAAGTTTCA NP_001308942.1:n.-192_-191insAAGTTTCA
NM_001322014.1:c.214_215insAAGTTTCA NP_001308943.1:p.Gly72GlufsTer7
NM_001322015.1:c.-271_-270insAAGTTTCA NP_001308944.1:n.-271_-270insAAGTTTCA
NR_136154.1:n.301_302insAAGTTTCA
XM_017012342.2:c.-571_-570insAAGTTTCA XP_016867831.1:n.-571_-570insAAGTTTCA
XM_024446800.1:c.-192_-191insAAGTTTCA XP_024302568.1:n.-192_-191insAAGTTTCA
NM_000535.7:c.214_215insAAGTTTCA MANE Select NP_000526.2:p.Gly72GlufsTer7
NM_001322003.2:c.-192_-191insAAGTTTCA NP_001308932.1:n.-192_-191insAAGTTTCA
NM_001322004.2:c.-192_-191insAAGTTTCA NP_001308933.1:n.-192_-191insAAGTTTCA
NM_001322005.2:c.-192_-191insAAGTTTCA NP_001308934.1:n.-192_-191insAAGTTTCA
NM_001322006.2:c.214_215insAAGTTTCA NP_001308935.1:p.Gly72GlufsTer7
NM_001322008.2:c.-2_-1insAAGTTTCA NP_001308937.1:n.-2_-1insAAGTTTCA
NM_001322009.2:c.-192_-191insAAGTTTCA NP_001308938.1:n.-192_-191insAAGTTTCA
NM_001322010.2:c.-192_-191insAAGTTTCA NP_001308939.1:n.-192_-191insAAGTTTCA
NM_001322011.2:c.-671_-670insAAGTTTCA NP_001308940.1:n.-671_-670insAAGTTTCA
NM_001322012.2:c.-671_-670insAAGTTTCA NP_001308941.1:n.-671_-670insAAGTTTCA
NM_001322013.2:c.-192_-191insAAGTTTCA NP_001308942.1:n.-192_-191insAAGTTTCA
NM_001322014.2:c.214_215insAAGTTTCA NP_001308943.1:p.Gly72GlufsTer7
NM_001322015.2:c.-271_-270insAAGTTTCA NP_001308944.1:n.-271_-270insAAGTTTCA
NM_001322007.2:c.-2_-1insAAGTTTCA NP_001308936.1:n.-2_-1insAAGTTTCA
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