Canonical Allele Identifier: CA2580076784

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1766571
• ClinVar RCV Id: RCV002371612

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5992027_5992029delinsCGC , CM000669.2:g.5992027_5992029delinsCGC	GRCh38
NC_000007.13:g.6031658_6031660delinsCGC , CM000669.1:g.6031658_6031660delinsCGC	GRCh37
NC_000007.12:g.5998184_5998186delinsCGC	NCBI36
NG_008466.1:g.22078_22080delinsGCG , LRG_161:g.22078_22080delinsGCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*328_*330delinsGCG	ENSP00000514615.2:n.*328_*330delinsGCG
ENST00000699840.2:c.929_931delinsGCG	ENSP00000514638.2:p.His310_Met311delinsArgVal
ENST00000699930.2:c.824_826delinsGCG	ENSP00000514695.2:p.His275_Met276delinsArgVal
ENST00000406569.8:c.932_934delinsGCG	ENSP00000514464.1:p.His311_Met312delinsArgVal
ENST00000644110.2:c.*526_*528delinsGCG	ENSP00000496392.2:n.*526_*528delinsGCG
ENST00000699752.1:c.932_934delinsGCG	ENSP00000514561.1:p.His311_Met312delinsArgVal
ENST00000699753.1:c.*231_*233delinsGCG	ENSP00000514562.1:n.*231_*233delinsGCG
ENST00000699754.1:c.734_736delinsGCG	ENSP00000514563.1:p.His245_Met246delinsArgVal
ENST00000699755.1:c.*331_*333delinsGCG	ENSP00000514564.1:n.*331_*333delinsGCG
ENST00000699756.1:c.*519_*521delinsGCG	ENSP00000514565.1:n.*519_*521delinsGCG
ENST00000699757.1:c.*189_*191delinsGCG	ENSP00000514566.1:n.*189_*191delinsGCG
ENST00000699758.1:c.*189_*191delinsGCG	ENSP00000514567.1:n.*189_*191delinsGCG
ENST00000699759.1:n.1786_1788delinsGCG
ENST00000699760.1:c.614_616delinsGCG	ENSP00000514568.1:p.His205_Met206delinsArgVal
ENST00000699761.1:c.527_529delinsGCG	ENSP00000514569.1:p.His176_Met177delinsArgVal
ENST00000699762.1:c.359_361delinsGCG	ENSP00000514570.1:p.His120_Met121delinsArgVal
ENST00000699763.1:c.527_529delinsGCG	ENSP00000514571.1:p.His176_Met177delinsArgVal
ENST00000699764.1:c.932_934delinsGCG	ENSP00000514572.1:p.His311_Met312delinsArgVal
ENST00000699765.1:c.*28_*30delinsGCG	ENSP00000514573.1:n.*28_*30delinsGCG
ENST00000699766.1:c.932_934delinsGCG	ENSP00000514574.1:p.His311_Met312delinsArgVal
ENST00000699767.1:c.932_934delinsGCG	ENSP00000514575.1:p.His311_Met312delinsArgVal
ENST00000699768.1:c.932_934delinsGCG	ENSP00000514576.1:p.His311_Met312delinsArgVal
ENST00000699811.1:c.527_529delinsGCG	ENSP00000514614.1:p.His176_Met177delinsArgVal
ENST00000699813.1:n.1045_1047delinsGCG
ENST00000699814.1:c.555_557delinsGCG
ENST00000699815.1:c.*424_*426delinsGCG	ENSP00000514616.1:n.*424_*426delinsGCG
ENST00000699816.1:c.527_529delinsGCG	ENSP00000514617.1:p.His176_Met177delinsArgVal
ENST00000699817.1:c.*526_*528delinsGCG	ENSP00000514618.1:n.*526_*528delinsGCG
ENST00000699818.1:c.527_529delinsGCG	ENSP00000514619.1:p.His176_Met177delinsArgVal
ENST00000699819.1:c.*89_*91delinsGCG	ENSP00000514620.1:n.*89_*91delinsGCG
ENST00000699820.1:c.932_934delinsGCG	ENSP00000514621.1:p.His311_Met312delinsArgVal
ENST00000699821.1:c.527_529delinsGCG	ENSP00000514622.1:p.His176_Met177delinsArgVal
ENST00000699822.1:c.*384_*386delinsGCG	ENSP00000514623.1:n.*384_*386delinsGCG
ENST00000699823.1:c.527_529delinsGCG	ENSP00000514624.1:p.His176_Met177delinsArgVal
ENST00000699824.1:c.*435_*437delinsGCG	ENSP00000514625.1:n.*435_*437delinsGCG
ENST00000699825.1:c.527_529delinsGCG	ENSP00000514626.1:p.His176_Met177delinsArgVal
ENST00000699826.1:c.*331_*333delinsGCG	ENSP00000514627.1:n.*331_*333delinsGCG
ENST00000699827.1:c.764_766delinsGCG	ENSP00000514628.1:p.His255_Met256delinsArgVal
ENST00000699828.1:c.932_934delinsGCG	ENSP00000514629.1:p.His311_Met312delinsArgVal
ENST00000699829.1:c.*433_*435delinsGCG	ENSP00000514630.1:n.*433_*435delinsGCG
ENST00000699830.1:c.*331_*333delinsGCG	ENSP00000514631.1:n.*331_*333delinsGCG
ENST00000699833.1:n.2704_2706delinsGCG
ENST00000699837.1:c.527_529delinsGCG	ENSP00000514635.1:p.His176_Met177delinsArgVal
ENST00000699838.1:c.*832_*834delinsGCG	ENSP00000514636.1:n.*832_*834delinsGCG
ENST00000699839.1:c.1118_1120delinsGCG	ENSP00000514637.1:p.His373_Met374delinsArgVal
ENST00000699840.1:c.929_931delinsGCG	ENSP00000514638.1:p.His310_Met311delinsArgVal
ENST00000699916.1:c.*189_*191delinsGCG	ENSP00000514684.1:n.*189_*191delinsGCG
ENST00000699917.1:c.*381_*383delinsGCG	ENSP00000514685.1:n.*381_*383delinsGCG
ENST00000699918.1:c.*433_*435delinsGCG	ENSP00000514686.1:n.*433_*435delinsGCG
ENST00000699919.1:c.*519_*521delinsGCG	ENSP00000514687.1:n.*519_*521delinsGCG
ENST00000699920.1:c.*568_*570delinsGCG	ENSP00000514688.1:n.*568_*570delinsGCG
ENST00000699928.1:c.932_934delinsGCG	ENSP00000514693.1:p.His311_Met312delinsArgVal
ENST00000699929.1:c.*233_*235delinsGCG	ENSP00000514694.1:n.*233_*235delinsGCG
ENST00000699930.1:c.824_826delinsGCG	ENSP00000514695.1:p.His275_Met276delinsArgVal
ENST00000699931.1:n.2360_2362delinsGCG
ENST00000699932.1:c.*28_*30delinsGCG	ENSP00000514696.1:n.*28_*30delinsGCG
ENST00000699933.1:n.912_914delinsGCG
ENST00000699951.1:c.*28_*30delinsGCG	ENSP00000514706.1:n.*28_*30delinsGCG
ENST00000699952.1:c.803+5297_803+5299delinsGCG	ENSP00000514707.1:n.803+5297_803+5299delinsGCG
ENST00000699953.1:c.*39_*41delinsGCG	ENSP00000514708.1:n.*39_*41delinsGCG
ENST00000699954.1:c.*233_*235delinsGCG	ENSP00000514709.1:n.*233_*235delinsGCG
ENST00000265849.12:c.932_934delinsGCG MANE Select	ENSP00000265849.7:p.His311_Met312delinsArgVal
ENST00000642292.1:c.527_529delinsGCG	ENSP00000495524.1:p.His176_Met177delinsArgVal
ENST00000642456.1:c.527_529delinsGCG	ENSP00000493814.1:p.His176_Met177delinsArgVal
ENST00000643595.1:c.*331_*333delinsGCG	ENSP00000494497.1:n.*331_*333delinsGCG
ENST00000644110.1:c.614_616delinsGCG	ENSP00000496392.1:p.His205_Met206delinsArgVal
ENST00000265849.11:c.932_934delinsGCG	ENSP00000265849.7:p.His311_Met312delinsArgVal
ENST00000382321.5:c.803+5297_803+5299delinsGCG	ENSP00000371758.4:n.803+5297_803+5299delinsGCG
ENST00000406569.7:n.932_934delinsGCG
ENST00000441476.6:c.614_616delinsGCG	ENSP00000392843.2:p.His205_Met206delinsArgVal
ENST00000469652.1:n.63-9124_63-9122delinsGCG
NM_000535.5:c.932_934delinsGCG , LRG_161t1:c.932_934delinsGCG	NP_000526.1:p.His311_Met312delinsArgVal
NR_003085.2:n.1014_1016delinsGCG
XM_006715742.2:c.926_928delinsGCG	XP_006715805.1:p.His309_Met310delinsArgVal
XM_006715744.2:c.-2_1delinsGCG
XM_011515427.1:c.977_979delinsGCG	XP_011513729.1:p.His326_Met327delinsArgVal
XM_011515428.1:c.977_979delinsGCG	XP_011513730.1:p.His326_Met327delinsArgVal
XM_011515429.1:c.614_616delinsGCG	XP_011513731.1:p.His205_Met206delinsArgVal
XM_011515430.1:c.614_616delinsGCG	XP_011513732.1:p.His205_Met206delinsArgVal
NM_000535.6:c.932_934delinsGCG	NP_000526.2:p.His311_Met312delinsArgVal
NM_001322003.1:c.527_529delinsGCG	NP_001308932.1:p.His176_Met177delinsArgVal
NM_001322004.1:c.527_529delinsGCG	NP_001308933.1:p.His176_Met177delinsArgVal
NM_001322005.1:c.527_529delinsGCG	NP_001308934.1:p.His176_Met177delinsArgVal
NM_001322006.1:c.932_934delinsGCG	NP_001308935.1:p.His311_Met312delinsArgVal
NM_001322007.1:c.614_616delinsGCG	NP_001308936.1:p.His205_Met206delinsArgVal
NM_001322008.1:c.614_616delinsGCG	NP_001308937.1:p.His205_Met206delinsArgVal
NM_001322009.1:c.527_529delinsGCG	NP_001308938.1:p.His176_Met177delinsArgVal
NM_001322010.1:c.527_529delinsGCG	NP_001308939.1:p.His176_Met177delinsArgVal
NM_001322011.1:c.-2_1delinsGCG
NM_001322012.1:c.-2_1delinsGCG
NM_001322013.1:c.359_361delinsGCG	NP_001308942.1:p.His120_Met121delinsArgVal
NM_001322014.1:c.932_934delinsGCG	NP_001308943.1:p.His311_Met312delinsArgVal
NM_001322015.1:c.623_625delinsGCG	NP_001308944.1:p.His208_Met209delinsArgVal
NR_136154.1:n.1019_1021delinsGCG
XM_006715744.4:c.-2_1delinsGCG
XM_017012342.2:c.-2_1delinsGCG
XM_024446800.1:c.527_529delinsGCG	XP_024302568.1:p.His176_Met177delinsArgVal
NM_000535.7:c.932_934delinsGCG MANE Select	NP_000526.2:p.His311_Met312delinsArgVal
NM_001322003.2:c.527_529delinsGCG	NP_001308932.1:p.His176_Met177delinsArgVal
NM_001322004.2:c.527_529delinsGCG	NP_001308933.1:p.His176_Met177delinsArgVal
NM_001322005.2:c.527_529delinsGCG	NP_001308934.1:p.His176_Met177delinsArgVal
NM_001322006.2:c.932_934delinsGCG	NP_001308935.1:p.His311_Met312delinsArgVal
NM_001322008.2:c.614_616delinsGCG	NP_001308937.1:p.His205_Met206delinsArgVal
NM_001322009.2:c.527_529delinsGCG	NP_001308938.1:p.His176_Met177delinsArgVal
NM_001322010.2:c.527_529delinsGCG	NP_001308939.1:p.His176_Met177delinsArgVal
NM_001322011.2:c.-2_1delinsGCG
NM_001322012.2:c.-2_1delinsGCG
NM_001322013.2:c.359_361delinsGCG	NP_001308942.1:p.His120_Met121delinsArgVal
NM_001322014.2:c.932_934delinsGCG	NP_001308943.1:p.His311_Met312delinsArgVal
NM_001322015.2:c.623_625delinsGCG	NP_001308944.1:p.His208_Met209delinsArgVal
NM_001322007.2:c.614_616delinsGCG	NP_001308936.1:p.His205_Met206delinsArgVal