Canonical Allele Identifier: CA4150125

Gene: PMS2

Linked Data

• ClinVar Variation Id: 525663
• ClinVar RCV Id: RCV002448928
• dbSNP Id: rs776688670
• ExAC: 7:6035219 ACTC / A
• gnomAD v2: 7-6035219-ACTC-A
• gnomAD v4: 7-5995588-ACTC-A
• MyVariant Identifiers: chr7:g.6035220_6035222del (hg19) ; chr7:g.5995589_5995591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5995591_5995593del , CM000669.2:g.5995591_5995593del	GRCh38
NC_000007.13:g.6035222_6035224del , CM000669.1:g.6035222_6035224del	GRCh37
NC_000007.12:g.6001748_6001750del	NCBI36
NG_008466.1:g.18516_18518del , LRG_161:g.18516_18518del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*299+3517_*299+3519del	ENSP00000514615.2:n.*299+3517_*299+3519de...
ENST00000699840.2:c.843_845del	ENSP00000514638.2:p.Arg281del
ENST00000699930.2:c.738_740del	ENSP00000514695.2:p.Arg246del
ENST00000406569.8:c.846_848del	ENSP00000514464.1:p.Arg282del
ENST00000644110.2:c.*440_*442del	ENSP00000496392.2:n.*440_*442del
ENST00000699752.1:c.846_848del	ENSP00000514561.1:p.Arg282del
ENST00000699753.1:c.*202+1735_*202+1737del	ENSP00000514562.1:n.*202+1735_*202+1737de...
ENST00000699754.1:c.705+3517_705+3519del	ENSP00000514563.1:n.705+3517_705+3519del
ENST00000699755.1:c.*245_*247del	ENSP00000514564.1:n.*245_*247del
ENST00000699756.1:c.*433_*435del	ENSP00000514565.1:n.*433_*435del
ENST00000699757.1:c.*103_*105del	ENSP00000514566.1:n.*103_*105del
ENST00000699758.1:c.*103_*105del	ENSP00000514567.1:n.*103_*105del
ENST00000699759.1:n.918_920del
ENST00000699760.1:c.528_530del	ENSP00000514568.1:p.Arg176del
ENST00000699761.1:c.441_443del	ENSP00000514569.1:p.Arg147del
ENST00000699762.1:c.273_275del	ENSP00000514570.1:p.Arg91del
ENST00000699763.1:c.441_443del	ENSP00000514571.1:p.Arg147del
ENST00000699764.1:c.846_848del	ENSP00000514572.1:p.Arg282del
ENST00000699765.1:c.485+1735_485+1737del	ENSP00000514573.1:n.485+1735_485+1737del
ENST00000699766.1:c.846_848del	ENSP00000514574.1:p.Arg282del
ENST00000699767.1:c.846_848del	ENSP00000514575.1:p.Arg282del
ENST00000699768.1:c.846_848del	ENSP00000514576.1:p.Arg282del
ENST00000699811.1:c.441_443del	ENSP00000514614.1:p.Arg147del
ENST00000699813.1:n.959_961del
ENST00000699814.1:c.526+3517_526+3519del
ENST00000699815.1:c.*305-987_*305-985del	ENSP00000514616.1:n.*305-987_*305-985del
ENST00000699816.1:c.441_443del	ENSP00000514617.1:p.Arg147del
ENST00000699817.1:c.*440_*442del	ENSP00000514618.1:n.*440_*442del
ENST00000699818.1:c.441_443del	ENSP00000514619.1:p.Arg147del
ENST00000699819.1:c.*60+1735_*60+1737del	ENSP00000514620.1:n.*60+1735_*60+1737del
ENST00000699820.1:c.846_848del	ENSP00000514621.1:p.Arg282del
ENST00000699821.1:c.441_443del	ENSP00000514622.1:p.Arg147del
ENST00000699822.1:c.*298_*300del	ENSP00000514623.1:n.*298_*300del
ENST00000699823.1:c.441_443del	ENSP00000514624.1:p.Arg147del
ENST00000699824.1:c.*349_*351del	ENSP00000514625.1:n.*349_*351del
ENST00000699825.1:c.441_443del	ENSP00000514626.1:p.Arg147del
ENST00000699826.1:c.*245_*247del	ENSP00000514627.1:n.*245_*247del
ENST00000699827.1:c.678_680del	ENSP00000514628.1:p.Arg226del
ENST00000699828.1:c.846_848del	ENSP00000514629.1:p.Arg282del
ENST00000699829.1:c.*347_*349del	ENSP00000514630.1:n.*347_*349del
ENST00000699830.1:c.*245_*247del	ENSP00000514631.1:n.*245_*247del
ENST00000699833.1:n.2618_2620del
ENST00000699837.1:c.441_443del	ENSP00000514635.1:p.Arg147del
ENST00000699838.1:c.*746_*748del	ENSP00000514636.1:n.*746_*748del
ENST00000699839.1:c.1032_1034del	ENSP00000514637.1:p.Arg344del
ENST00000699840.1:c.843_845del	ENSP00000514638.1:p.Arg281del
ENST00000699916.1:c.*103_*105del	ENSP00000514684.1:n.*103_*105del
ENST00000699917.1:c.*295_*297del	ENSP00000514685.1:n.*295_*297del
ENST00000699918.1:c.*347_*349del	ENSP00000514686.1:n.*347_*349del
ENST00000699919.1:c.*433_*435del	ENSP00000514687.1:n.*433_*435del
ENST00000699920.1:c.*482_*484del	ENSP00000514688.1:n.*482_*484del
ENST00000699928.1:c.846_848del	ENSP00000514693.1:p.Arg282del
ENST00000699929.1:c.*147_*149del	ENSP00000514694.1:n.*147_*149del
ENST00000699930.1:c.738_740del	ENSP00000514695.1:p.Arg246del
ENST00000699931.1:n.957_959del
ENST00000699932.1:c.803+1735_803+1737del	ENSP00000514696.1:n.803+1735_803+1737del
ENST00000699933.1:n.883+1735_883+1737del
ENST00000699951.1:c.803+1735_803+1737del	ENSP00000514706.1:n.803+1735_803+1737del
ENST00000699952.1:c.803+1735_803+1737del	ENSP00000514707.1:n.803+1735_803+1737del
ENST00000699953.1:c.748_750del	ENSP00000514708.1:p.Glu250del
ENST00000699954.1:c.*147_*149del	ENSP00000514709.1:n.*147_*149del
ENST00000265849.12:c.846_848del MANE Select	ENSP00000265849.7:p.Arg282del
ENST00000642292.1:c.441_443del	ENSP00000495524.1:p.Arg147del
ENST00000642456.1:c.441_443del	ENSP00000493814.1:p.Arg147del
ENST00000643595.1:c.*245_*247del	ENSP00000494497.1:n.*245_*247del
ENST00000644110.1:c.528_530del	ENSP00000496392.1:p.Arg176del
ENST00000265849.11:c.846_848del	ENSP00000265849.7:p.Arg282del
ENST00000382321.5:c.803+1735_803+1737del	ENSP00000371758.4:n.803+1735_803+1737del
ENST00000406569.7:n.846_848del
ENST00000441476.6:c.528_530del	ENSP00000392843.2:p.Arg176del
ENST00000469652.1:n.62+10402_62+10404del
NM_000535.5:c.846_848del , LRG_161t1:c.846_848del	NP_000526.1:p.Arg282del
NR_003085.2:n.928_930del
XM_006715742.2:c.840_842del	XP_006715805.1:p.Arg280del
XM_011515427.1:c.891_893del	XP_011513729.1:p.Arg297del
XM_011515428.1:c.891_893del	XP_011513730.1:p.Arg297del
XM_011515429.1:c.528_530del	XP_011513731.1:p.Arg176del
XM_011515430.1:c.528_530del	XP_011513732.1:p.Arg176del
NM_000535.6:c.846_848del	NP_000526.2:p.Arg282del
NM_001322003.1:c.441_443del	NP_001308932.1:p.Arg147del
NM_001322004.1:c.441_443del	NP_001308933.1:p.Arg147del
NM_001322005.1:c.441_443del	NP_001308934.1:p.Arg147del
NM_001322006.1:c.846_848del	NP_001308935.1:p.Arg282del
NM_001322007.1:c.528_530del	NP_001308936.1:p.Arg176del
NM_001322008.1:c.528_530del	NP_001308937.1:p.Arg176del
NM_001322009.1:c.441_443del	NP_001308938.1:p.Arg147del
NM_001322010.1:c.441_443del	NP_001308939.1:p.Arg147del
NM_001322011.1:c.-88_-86del	NP_001308940.1:n.-88_-86del
NM_001322012.1:c.-88_-86del	NP_001308941.1:n.-88_-86del
NM_001322013.1:c.273_275del	NP_001308942.1:p.Arg91del
NM_001322014.1:c.846_848del	NP_001308943.1:p.Arg282del
NM_001322015.1:c.537_539del	NP_001308944.1:p.Arg179del
NR_136154.1:n.933_935del
XM_017012342.2:c.-31+1735_-31+1737del	XP_016867831.1:n.-31+1735_-31+1737del
XM_024446800.1:c.441_443del	XP_024302568.1:p.Arg147del
NM_000535.7:c.846_848del MANE Select	NP_000526.2:p.Arg282del
NM_001322003.2:c.441_443del	NP_001308932.1:p.Arg147del
NM_001322004.2:c.441_443del	NP_001308933.1:p.Arg147del
NM_001322005.2:c.441_443del	NP_001308934.1:p.Arg147del
NM_001322006.2:c.846_848del	NP_001308935.1:p.Arg282del
NM_001322008.2:c.528_530del	NP_001308937.1:p.Arg176del
NM_001322009.2:c.441_443del	NP_001308938.1:p.Arg147del
NM_001322010.2:c.441_443del	NP_001308939.1:p.Arg147del
NM_001322011.2:c.-88_-86del	NP_001308940.1:n.-88_-86del
NM_001322012.2:c.-88_-86del	NP_001308941.1:n.-88_-86del
NM_001322013.2:c.273_275del	NP_001308942.1:p.Arg91del
NM_001322014.2:c.846_848del	NP_001308943.1:p.Arg282del
NM_001322015.2:c.537_539del	NP_001308944.1:p.Arg179del
NM_001322007.2:c.528_530del	NP_001308936.1:p.Arg176del