Canonical Allele Identifier: CA658657646
Gene: PMS2 HGNC NCBI
ClinVar Allele:
474652
ClinVar RCV:
RCV000569611
ClinVar Variation:
480336
dbSNP:
267608150
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5997388_5997393delinsCTTCACAAC , CM000669.2:g.5997388_5997393delinsCTTCACAAC GRCh38
NC_000007.13:g.6037019_6037024delinsCTTCACAAC , CM000669.1:g.6037019_6037024delinsCTTCACAAC GRCh37
NC_000007.12:g.6003545_6003550delinsCTTCACAAC NCBI36
NG_008466.1:g.16714_16719delinsGTTGTGAAG , LRG_161:g.16714_16719delinsGTTGTGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*299+1715_*299+1720delinsGTTGTGAAG ENSP00000514615.2:n.*299+1715_*299+1720delinsGTTGTGAAG
ENST00000699840.2:c.733_738delinsGTTGTGAAG ENSP00000514638.2:p.Pro245_Pro246delinsValValLys
ENST00000699930.2:c.628_633delinsGTTGTGAAG ENSP00000514695.2:p.Pro210_Pro211delinsValValLys
ENST00000406569.8:c.736_741delinsGTTGTGAAG ENSP00000514464.1:p.Pro246_Pro247delinsValValLys
ENST00000644110.2:c.*330_*335delinsGTTGTGAAG ENSP00000496392.2:n.*330_*335delinsGTTGTGAAG
ENST00000699752.1:c.736_741delinsGTTGTGAAG ENSP00000514561.1:p.Pro246_Pro247delinsValValLys
ENST00000699753.1:c.*135_*140delinsGTTGTGAAG ENSP00000514562.1:n.*135_*140delinsGTTGTGAAG
ENST00000699754.1:c.705+1715_705+1720delinsGTTGTGAAG ENSP00000514563.1:n.705+1715_705+1720delinsGTTGTGAAG
ENST00000699755.1:c.*135_*140delinsGTTGTGAAG ENSP00000514564.1:n.*135_*140delinsGTTGTGAAG
ENST00000699756.1:c.*323_*328delinsGTTGTGAAG ENSP00000514565.1:n.*323_*328delinsGTTGTGAAG
ENST00000699757.1:c.185_190delinsGTTGTGAAG ENSP00000514566.1:p.Ala62_Ter64delinsGlyCysGluGlu
ENST00000699758.1:c.449_454delinsGTTGTGAAG ENSP00000514567.1:p.Ala150_Ter152delinsGlyCysGluGlu
ENST00000699759.1:n.808_813delinsGTTGTGAAG
ENST00000699760.1:c.418_423delinsGTTGTGAAG ENSP00000514568.1:p.Pro140_Pro141delinsValValLys
ENST00000699761.1:c.331_336delinsGTTGTGAAG ENSP00000514569.1:p.Pro111_Pro112delinsValValLys
ENST00000699762.1:c.163_168delinsGTTGTGAAG ENSP00000514570.1:p.Pro55_Pro56delinsValValLys
ENST00000699763.1:c.331_336delinsGTTGTGAAG ENSP00000514571.1:p.Pro111_Pro112delinsValValLys
ENST00000699764.1:c.736_741delinsGTTGTGAAG ENSP00000514572.1:p.Pro246_Pro247delinsValValLys
ENST00000699765.1:c.418_423delinsGTTGTGAAG ENSP00000514573.1:p.Pro140_Pro141delinsValValLys
ENST00000699766.1:c.736_741delinsGTTGTGAAG ENSP00000514574.1:p.Pro246_Pro247delinsValValLys
ENST00000699767.1:c.736_741delinsGTTGTGAAG ENSP00000514575.1:p.Pro246_Pro247delinsValValLys
ENST00000699768.1:c.736_741delinsGTTGTGAAG ENSP00000514576.1:p.Pro246_Pro247delinsValValLys
ENST00000699811.1:c.331_336delinsGTTGTGAAG ENSP00000514614.1:p.Pro111_Pro112delinsValValLys
ENST00000699813.1:n.849_854delinsGTTGTGAAG
ENST00000699814.1:c.526+1715_526+1720delinsGTTGTGAAG
ENST00000699815.1:c.*237_*242delinsGTTGTGAAG ENSP00000514616.1:n.*237_*242delinsGTTGTGAAG
ENST00000699816.1:c.331_336delinsGTTGTGAAG ENSP00000514617.1:p.Pro111_Pro112delinsValValLys
ENST00000699817.1:c.*330_*335delinsGTTGTGAAG ENSP00000514618.1:n.*330_*335delinsGTTGTGAAG
ENST00000699818.1:c.331_336delinsGTTGTGAAG ENSP00000514619.1:p.Pro111_Pro112delinsValValLys
ENST00000699819.1:c.269_274delinsGTTGTGAAG ENSP00000514620.1:p.Ala90_Ter92delinsGlyCysGluGlu
ENST00000699820.1:c.736_741delinsGTTGTGAAG ENSP00000514621.1:p.Pro246_Pro247delinsValValLys
ENST00000699821.1:c.331_336delinsGTTGTGAAG ENSP00000514622.1:p.Pro111_Pro112delinsValValLys
ENST00000699822.1:c.*188_*193delinsGTTGTGAAG ENSP00000514623.1:n.*188_*193delinsGTTGTGAAG
ENST00000699823.1:c.331_336delinsGTTGTGAAG ENSP00000514624.1:p.Pro111_Pro112delinsValValLys
ENST00000699824.1:c.*239_*244delinsGTTGTGAAG ENSP00000514625.1:n.*239_*244delinsGTTGTGAAG
ENST00000699825.1:c.331_336delinsGTTGTGAAG ENSP00000514626.1:p.Pro111_Pro112delinsValValLys
ENST00000699826.1:c.*135_*140delinsGTTGTGAAG ENSP00000514627.1:n.*135_*140delinsGTTGTGAAG
ENST00000699827.1:c.568_573delinsGTTGTGAAG ENSP00000514628.1:p.Pro190_Pro191delinsValValLys
ENST00000699828.1:c.736_741delinsGTTGTGAAG ENSP00000514629.1:p.Pro246_Pro247delinsValValLys
ENST00000699829.1:c.*237_*242delinsGTTGTGAAG ENSP00000514630.1:n.*237_*242delinsGTTGTGAAG
ENST00000699830.1:c.*135_*140delinsGTTGTGAAG ENSP00000514631.1:n.*135_*140delinsGTTGTGAAG
ENST00000699831.1:n.648_653delinsGTTGTGAAG
ENST00000699832.1:n.1019_1024delinsGTTGTGAAG
ENST00000699833.1:n.816_821delinsGTTGTGAAG
ENST00000699837.1:c.331_336delinsGTTGTGAAG ENSP00000514635.1:p.Pro111_Pro112delinsValValLys
ENST00000699838.1:c.*636_*641delinsGTTGTGAAG ENSP00000514636.1:n.*636_*641delinsGTTGTGAAG
ENST00000699839.1:c.922_927delinsGTTGTGAAG ENSP00000514637.1:p.Pro308_Pro309delinsValValLys
ENST00000699840.1:c.733_738delinsGTTGTGAAG ENSP00000514638.1:p.Pro245_Pro246delinsValValLys
ENST00000699916.1:c.284_289delinsGTTGTGAAG ENSP00000514684.1:p.Ala95_Ter97delinsGlyCysGluGlu
ENST00000699917.1:c.*185_*190delinsGTTGTGAAG ENSP00000514685.1:n.*185_*190delinsGTTGTGAAG
ENST00000699918.1:c.*237_*242delinsGTTGTGAAG ENSP00000514686.1:n.*237_*242delinsGTTGTGAAG
ENST00000699919.1:c.*323_*328delinsGTTGTGAAG ENSP00000514687.1:n.*323_*328delinsGTTGTGAAG
ENST00000699920.1:c.*372_*377delinsGTTGTGAAG ENSP00000514688.1:n.*372_*377delinsGTTGTGAAG
ENST00000699928.1:c.736_741delinsGTTGTGAAG ENSP00000514693.1:p.Pro246_Pro247delinsValValLys
ENST00000699929.1:c.*104+1715_*104+1720delinsGTTGTGAAG ENSP00000514694.1:n.*104+1715_*104+1720delinsGTTGTGAAG
ENST00000699930.1:c.628_633delinsGTTGTGAAG ENSP00000514695.1:p.Pro210_Pro211delinsValValLys
ENST00000699931.1:n.847_852delinsGTTGTGAAG
ENST00000699932.1:c.736_741delinsGTTGTGAAG ENSP00000514696.1:p.Pro246_Pro247delinsValValLys
ENST00000699933.1:n.816_821delinsGTTGTGAAG
ENST00000699951.1:c.736_741delinsGTTGTGAAG ENSP00000514706.1:p.Pro246_Pro247delinsValValLys
ENST00000699952.1:c.736_741delinsGTTGTGAAG ENSP00000514707.1:p.Pro246_Pro247delinsValValLys
ENST00000699953.1:c.705+1715_705+1720delinsGTTGTGAAG ENSP00000514708.1:n.705+1715_705+1720delinsGTTGTGAAG
ENST00000699954.1:c.*104+1715_*104+1720delinsGTTGTGAAG ENSP00000514709.1:n.*104+1715_*104+1720delinsGTTGTGAAG
ENST00000265849.12:c.736_741delinsGTTGTGAAG MANE Select ENSP00000265849.7:p.Pro246_Pro247delinsValValLys
ENST00000642292.1:c.331_336delinsGTTGTGAAG ENSP00000495524.1:p.Pro111_Pro112delinsValValLys
ENST00000642456.1:c.331_336delinsGTTGTGAAG ENSP00000493814.1:p.Pro111_Pro112delinsValValLys
ENST00000643595.1:c.*135_*140delinsGTTGTGAAG ENSP00000494497.1:n.*135_*140delinsGTTGTGAAG
ENST00000644110.1:c.418_423delinsGTTGTGAAG ENSP00000496392.1:p.Pro140_Pro141delinsValValLys
ENST00000265849.11:c.736_741delinsGTTGTGAAG ENSP00000265849.7:p.Pro246_Pro247delinsValValLys
ENST00000382321.5:c.736_741delinsGTTGTGAAG ENSP00000371758.4:p.Pro246_Pro247delinsValValLys
ENST00000406569.7:n.736_741delinsGTTGTGAAG
ENST00000441476.6:c.418_423delinsGTTGTGAAG ENSP00000392843.2:p.Pro140_Pro141delinsValValLys
ENST00000469652.1:n.62+8600_62+8605delinsGTTGTGAAG
NM_000535.5:c.736_741delinsGTTGTGAAG , LRG_161t1:c.736_741delinsGTTGTGAAG NP_000526.1:p.Pro246_Pro247delinsValValLys
NR_003085.2:n.818_823delinsGTTGTGAAG
XM_006715742.2:c.730_735delinsGTTGTGAAG XP_006715805.1:p.Pro244_Pro245delinsValValLys
XM_011515427.1:c.781_786delinsGTTGTGAAG XP_011513729.1:p.Pro261_Pro262delinsValValLys
XM_011515428.1:c.781_786delinsGTTGTGAAG XP_011513730.1:p.Pro261_Pro262delinsValValLys
XM_011515429.1:c.418_423delinsGTTGTGAAG XP_011513731.1:p.Pro140_Pro141delinsValValLys
XM_011515430.1:c.418_423delinsGTTGTGAAG XP_011513732.1:p.Pro140_Pro141delinsValValLys
NM_000535.6:c.736_741delinsGTTGTGAAG NP_000526.2:p.Pro246_Pro247delinsValValLys
NM_001322003.1:c.331_336delinsGTTGTGAAG NP_001308932.1:p.Pro111_Pro112delinsValValLys
NM_001322004.1:c.331_336delinsGTTGTGAAG NP_001308933.1:p.Pro111_Pro112delinsValValLys
NM_001322005.1:c.331_336delinsGTTGTGAAG NP_001308934.1:p.Pro111_Pro112delinsValValLys
NM_001322006.1:c.736_741delinsGTTGTGAAG NP_001308935.1:p.Pro246_Pro247delinsValValLys
NM_001322007.1:c.418_423delinsGTTGTGAAG NP_001308936.1:p.Pro140_Pro141delinsValValLys
NM_001322008.1:c.418_423delinsGTTGTGAAG NP_001308937.1:p.Pro140_Pro141delinsValValLys
NM_001322009.1:c.331_336delinsGTTGTGAAG NP_001308938.1:p.Pro111_Pro112delinsValValLys
NM_001322010.1:c.331_336delinsGTTGTGAAG NP_001308939.1:p.Pro111_Pro112delinsValValLys
NM_001322011.1:c.-198_-193delinsGTTGTGAAG NP_001308940.1:n.-198_-193delinsGTTGTGAAG
NM_001322012.1:c.-198_-193delinsGTTGTGAAG NP_001308941.1:n.-198_-193delinsGTTGTGAAG
NM_001322013.1:c.163_168delinsGTTGTGAAG NP_001308942.1:p.Pro55_Pro56delinsValValLys
NM_001322014.1:c.736_741delinsGTTGTGAAG NP_001308943.1:p.Pro246_Pro247delinsValValLys
NM_001322015.1:c.427_432delinsGTTGTGAAG NP_001308944.1:p.Pro143_Pro144delinsValValLys
NR_136154.1:n.823_828delinsGTTGTGAAG
XM_017012342.2:c.-98_-93delinsGTTGTGAAG XP_016867831.1:n.-98_-93delinsGTTGTGAAG
XM_024446800.1:c.331_336delinsGTTGTGAAG XP_024302568.1:p.Pro111_Pro112delinsValValLys
NM_000535.7:c.736_741delinsGTTGTGAAG MANE Select NP_000526.2:p.Pro246_Pro247delinsValValLys
NM_001322003.2:c.331_336delinsGTTGTGAAG NP_001308932.1:p.Pro111_Pro112delinsValValLys
NM_001322004.2:c.331_336delinsGTTGTGAAG NP_001308933.1:p.Pro111_Pro112delinsValValLys
NM_001322005.2:c.331_336delinsGTTGTGAAG NP_001308934.1:p.Pro111_Pro112delinsValValLys
NM_001322006.2:c.736_741delinsGTTGTGAAG NP_001308935.1:p.Pro246_Pro247delinsValValLys
NM_001322008.2:c.418_423delinsGTTGTGAAG NP_001308937.1:p.Pro140_Pro141delinsValValLys
NM_001322009.2:c.331_336delinsGTTGTGAAG NP_001308938.1:p.Pro111_Pro112delinsValValLys
NM_001322010.2:c.331_336delinsGTTGTGAAG NP_001308939.1:p.Pro111_Pro112delinsValValLys
NM_001322011.2:c.-198_-193delinsGTTGTGAAG NP_001308940.1:n.-198_-193delinsGTTGTGAAG
NM_001322012.2:c.-198_-193delinsGTTGTGAAG NP_001308941.1:n.-198_-193delinsGTTGTGAAG
NM_001322013.2:c.163_168delinsGTTGTGAAG NP_001308942.1:p.Pro55_Pro56delinsValValLys
NM_001322014.2:c.736_741delinsGTTGTGAAG NP_001308943.1:p.Pro246_Pro247delinsValValLys
NM_001322015.2:c.427_432delinsGTTGTGAAG NP_001308944.1:p.Pro143_Pro144delinsValValLys
NM_001322007.2:c.418_423delinsGTTGTGAAG NP_001308936.1:p.Pro140_Pro141delinsValValLys
Search 100 bp 5'
Search 100 bp 3'