Canonical Allele Identifier: CA366742326

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1770056
• ClinVar RCV Id: RCV002385839
• dbSNP Id: rs1783132810
• MyVariant Identifiers: chr7:g.6027068C>T (hg19) ; chr7:g.5987437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987437C>T , CM000669.2:g.5987437C>T	GRCh38
NC_000007.13:g.6027068C>T , CM000669.1:g.6027068C>T	GRCh37
NC_000007.12:g.5993594C>T	NCBI36
NG_008466.1:g.26670G>A , LRG_161:g.26670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*724G>A	ENSP00000514615.2:n.*724G>A
ENST00000699840.2:c.1325G>A	ENSP00000514638.2:p.Arg442Lys
ENST00000699930.2:c.1220G>A	ENSP00000514695.2:p.Arg407Lys
ENST00000406569.8:c.1328G>A	ENSP00000514464.1:p.Arg443Lys
ENST00000644110.2:c.*922G>A	ENSP00000496392.2:n.*922G>A
ENST00000699752.1:c.1172G>A	ENSP00000514561.1:p.Arg391Lys
ENST00000699753.1:c.*749G>A	ENSP00000514562.1:n.*749G>A
ENST00000699754.1:c.1130G>A	ENSP00000514563.1:p.Arg377Lys
ENST00000699755.1:c.*727G>A	ENSP00000514564.1:n.*727G>A
ENST00000699756.1:c.*915G>A	ENSP00000514565.1:n.*915G>A
ENST00000699757.1:c.*585G>A	ENSP00000514566.1:n.*585G>A
ENST00000699758.1:c.*585G>A	ENSP00000514567.1:n.*585G>A
ENST00000699759.1:n.2182G>A
ENST00000699760.1:c.1010G>A	ENSP00000514568.1:p.Arg337Lys
ENST00000699761.1:c.923G>A	ENSP00000514569.1:p.Arg308Lys
ENST00000699762.1:c.755G>A	ENSP00000514570.1:p.Arg252Lys
ENST00000699763.1:c.*418G>A	ENSP00000514571.1:n.*418G>A
ENST00000699764.1:c.1328G>A	ENSP00000514572.1:p.Arg443Lys
ENST00000699765.1:c.*424G>A	ENSP00000514573.1:n.*424G>A
ENST00000699766.1:c.1328G>A	ENSP00000514574.1:p.Arg443Lys
ENST00000699767.1:c.1328G>A	ENSP00000514575.1:p.Arg443Lys
ENST00000699768.1:c.1328G>A	ENSP00000514576.1:p.Arg443Lys
ENST00000699811.1:c.923G>A	ENSP00000514614.1:p.Arg308Lys
ENST00000699813.1:n.1441G>A
ENST00000699814.1:c.951G>A
ENST00000699815.1:c.*859G>A	ENSP00000514616.1:n.*859G>A
ENST00000699816.1:c.*218G>A	ENSP00000514617.1:n.*218G>A
ENST00000699817.1:c.*922G>A	ENSP00000514618.1:n.*922G>A
ENST00000699818.1:c.923G>A	ENSP00000514619.1:p.Arg308Lys
ENST00000699819.1:c.*485G>A	ENSP00000514620.1:n.*485G>A
ENST00000699820.1:c.1144+2363G>A	ENSP00000514621.1:n.1144+2363G>A
ENST00000699821.1:c.923G>A	ENSP00000514622.1:p.Arg308Lys
ENST00000699822.1:c.*780G>A	ENSP00000514623.1:n.*780G>A
ENST00000699823.1:c.923G>A	ENSP00000514624.1:p.Arg308Lys
ENST00000699824.1:c.*831G>A	ENSP00000514625.1:n.*831G>A
ENST00000699825.1:c.767G>A	ENSP00000514626.1:p.Arg256Lys
ENST00000699826.1:c.*727G>A	ENSP00000514627.1:n.*727G>A
ENST00000699827.1:c.1160G>A	ENSP00000514628.1:p.Arg387Lys
ENST00000699828.1:c.*418G>A	ENSP00000514629.1:n.*418G>A
ENST00000699833.1:n.3100G>A
ENST00000699837.1:c.923G>A	ENSP00000514635.1:p.Arg308Lys
ENST00000699838.1:c.*1228G>A	ENSP00000514636.1:n.*1228G>A
ENST00000699839.1:c.1514G>A	ENSP00000514637.1:p.Arg505Lys
ENST00000699916.1:c.*585G>A	ENSP00000514684.1:n.*585G>A
ENST00000699917.1:c.*777G>A	ENSP00000514685.1:n.*777G>A
ENST00000699918.1:c.*829G>A	ENSP00000514686.1:n.*829G>A
ENST00000699919.1:c.*915G>A	ENSP00000514687.1:n.*915G>A
ENST00000699920.1:c.*964G>A	ENSP00000514688.1:n.*964G>A
ENST00000699928.1:c.989-4446G>A	ENSP00000514693.1:n.989-4446G>A
ENST00000699929.1:c.*629G>A	ENSP00000514694.1:n.*629G>A
ENST00000699930.1:c.1220G>A	ENSP00000514695.1:p.Arg407Lys
ENST00000699931.1:n.2756G>A
ENST00000699951.1:c.*424G>A	ENSP00000514706.1:n.*424G>A
ENST00000699952.1:c.803+9889G>A	ENSP00000514707.1:n.803+9889G>A
ENST00000699953.1:c.*435G>A	ENSP00000514708.1:n.*435G>A
ENST00000699954.1:c.*629G>A	ENSP00000514709.1:n.*629G>A
ENST00000265849.12:c.1328G>A MANE Select	ENSP00000265849.7:p.Arg443Lys
ENST00000642292.1:c.923G>A	ENSP00000495524.1:p.Arg308Lys
ENST00000642456.1:c.923G>A	ENSP00000493814.1:p.Arg308Lys
ENST00000643595.1:c.*727G>A	ENSP00000494497.1:n.*727G>A
ENST00000644110.1:c.1010G>A	ENSP00000496392.1:p.Arg337Lys
ENST00000265849.11:c.1328G>A	ENSP00000265849.7:p.Arg443Lys
ENST00000382321.5:c.804-4446G>A	ENSP00000371758.4:n.804-4446G>A
ENST00000406569.7:n.1328G>A
ENST00000441476.6:c.1010G>A	ENSP00000392843.2:p.Arg337Lys
ENST00000469652.1:n.63-4532G>A
NM_000535.5:c.1328G>A , LRG_161t1:c.1328G>A	NP_000526.1:p.Arg443Lys
NR_003085.2:n.1410G>A
XM_006715742.2:c.1322G>A	XP_006715805.1:p.Arg441Lys
XM_006715744.2:c.395G>A	XP_006715807.1:p.Arg132Lys
XM_011515427.1:c.1373G>A	XP_011513729.1:p.Arg458Lys
XM_011515428.1:c.1217G>A	XP_011513730.1:p.Arg406Lys
XM_011515429.1:c.1010G>A	XP_011513731.1:p.Arg337Lys
XM_011515430.1:c.1010G>A	XP_011513732.1:p.Arg337Lys
NM_000535.6:c.1328G>A	NP_000526.2:p.Arg443Lys
NM_001322003.1:c.923G>A	NP_001308932.1:p.Arg308Lys
NM_001322004.1:c.923G>A	NP_001308933.1:p.Arg308Lys
NM_001322005.1:c.923G>A	NP_001308934.1:p.Arg308Lys
NM_001322006.1:c.1172G>A	NP_001308935.1:p.Arg391Lys
NM_001322007.1:c.1010G>A	NP_001308936.1:p.Arg337Lys
NM_001322008.1:c.1010G>A	NP_001308937.1:p.Arg337Lys
NM_001322009.1:c.923G>A	NP_001308938.1:p.Arg308Lys
NM_001322010.1:c.767G>A	NP_001308939.1:p.Arg256Lys
NM_001322011.1:c.395G>A	NP_001308940.1:p.Arg132Lys
NM_001322012.1:c.395G>A	NP_001308941.1:p.Arg132Lys
NM_001322013.1:c.755G>A	NP_001308942.1:p.Arg252Lys
NM_001322014.1:c.1328G>A	NP_001308943.1:p.Arg443Lys
NM_001322015.1:c.1019G>A	NP_001308944.1:p.Arg340Lys
NR_136154.1:n.1415G>A
XM_006715744.4:c.395G>A	XP_006715807.1:p.Arg132Lys
XM_017012342.2:c.395G>A	XP_016867831.1:p.Arg132Lys
XM_024446800.1:c.767G>A	XP_024302568.1:p.Arg256Lys
NM_000535.7:c.1328G>A MANE Select	NP_000526.2:p.Arg443Lys
NM_001322003.2:c.923G>A	NP_001308932.1:p.Arg308Lys
NM_001322004.2:c.923G>A	NP_001308933.1:p.Arg308Lys
NM_001322005.2:c.923G>A	NP_001308934.1:p.Arg308Lys
NM_001322006.2:c.1172G>A	NP_001308935.1:p.Arg391Lys
NM_001322008.2:c.1010G>A	NP_001308937.1:p.Arg337Lys
NM_001322009.2:c.923G>A	NP_001308938.1:p.Arg308Lys
NM_001322010.2:c.767G>A	NP_001308939.1:p.Arg256Lys
NM_001322011.2:c.395G>A	NP_001308940.1:p.Arg132Lys
NM_001322012.2:c.395G>A	NP_001308941.1:p.Arg132Lys
NM_001322013.2:c.755G>A	NP_001308942.1:p.Arg252Lys
NM_001322014.2:c.1328G>A	NP_001308943.1:p.Arg443Lys
NM_001322015.2:c.1019G>A	NP_001308944.1:p.Arg340Lys
NM_001322007.2:c.1010G>A	NP_001308936.1:p.Arg337Lys