Canonical Allele Identifier: CA453746306

Gene: PMS2

Linked Data

• ClinVar Variation Id: 794029
• ClinVar RCV Id: RCV001450778
• dbSNP Id: rs1583319857
• MyVariant Identifiers: chr7:g.6026944A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987313A>T , CM000669.2:g.5987313A>T	GRCh38
NC_000007.13:g.6026944A>T , CM000669.1:g.6026944A>T	GRCh37
NC_000007.12:g.5993470A>T	NCBI36
NG_008466.1:g.26794T>A , LRG_161:g.26794T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*848T>A	ENSP00000514615.2:n.*848T>A
ENST00000699840.2:c.1449T>A	ENSP00000514638.2:p.Pro483=
ENST00000699930.2:c.1344T>A	ENSP00000514695.2:p.Pro448=
ENST00000406569.8:c.1452T>A	ENSP00000514464.1:p.Pro484=
ENST00000644110.2:c.*1046T>A	ENSP00000496392.2:n.*1046T>A
ENST00000699752.1:c.1296T>A	ENSP00000514561.1:p.Pro432=
ENST00000699753.1:c.*873T>A	ENSP00000514562.1:n.*873T>A
ENST00000699754.1:c.1254T>A	ENSP00000514563.1:p.Pro418=
ENST00000699755.1:c.*851T>A	ENSP00000514564.1:n.*851T>A
ENST00000699756.1:c.*1039T>A	ENSP00000514565.1:n.*1039T>A
ENST00000699757.1:c.*709T>A	ENSP00000514566.1:n.*709T>A
ENST00000699758.1:c.*709T>A	ENSP00000514567.1:n.*709T>A
ENST00000699759.1:n.2306T>A
ENST00000699760.1:c.1134T>A	ENSP00000514568.1:p.Pro378=
ENST00000699761.1:c.1047T>A	ENSP00000514569.1:p.Pro349=
ENST00000699762.1:c.879T>A	ENSP00000514570.1:p.Pro293=
ENST00000699763.1:c.*542T>A	ENSP00000514571.1:n.*542T>A
ENST00000699764.1:c.1452T>A	ENSP00000514572.1:p.Pro484=
ENST00000699765.1:c.*548T>A	ENSP00000514573.1:n.*548T>A
ENST00000699766.1:c.1452T>A	ENSP00000514574.1:p.Pro484=
ENST00000699767.1:c.1452T>A	ENSP00000514575.1:p.Pro484=
ENST00000699768.1:c.1452T>A	ENSP00000514576.1:p.Pro484=
ENST00000699811.1:c.1047T>A	ENSP00000514614.1:p.Pro349=
ENST00000699813.1:n.1565T>A
ENST00000699814.1:c.1075T>A
ENST00000699815.1:c.*983T>A	ENSP00000514616.1:n.*983T>A
ENST00000699816.1:c.*342T>A	ENSP00000514617.1:n.*342T>A
ENST00000699817.1:c.*1046T>A	ENSP00000514618.1:n.*1046T>A
ENST00000699818.1:c.1047T>A	ENSP00000514619.1:p.Pro349=
ENST00000699819.1:c.*609T>A	ENSP00000514620.1:n.*609T>A
ENST00000699820.1:c.1144+2487T>A	ENSP00000514621.1:n.1144+2487T>A
ENST00000699821.1:c.1047T>A	ENSP00000514622.1:p.Pro349=
ENST00000699822.1:c.*904T>A	ENSP00000514623.1:n.*904T>A
ENST00000699823.1:c.1047T>A	ENSP00000514624.1:p.Pro349=
ENST00000699824.1:c.*955T>A	ENSP00000514625.1:n.*955T>A
ENST00000699825.1:c.891T>A	ENSP00000514626.1:p.Pro297=
ENST00000699826.1:c.*851T>A	ENSP00000514627.1:n.*851T>A
ENST00000699827.1:c.1284T>A	ENSP00000514628.1:p.Pro428=
ENST00000699828.1:c.*542T>A	ENSP00000514629.1:n.*542T>A
ENST00000699833.1:n.3224T>A
ENST00000699837.1:c.1047T>A	ENSP00000514635.1:p.Pro349=
ENST00000699838.1:c.*1352T>A	ENSP00000514636.1:n.*1352T>A
ENST00000699839.1:c.1638T>A	ENSP00000514637.1:p.Pro546=
ENST00000699916.1:c.*709T>A	ENSP00000514684.1:n.*709T>A
ENST00000699917.1:c.*901T>A	ENSP00000514685.1:n.*901T>A
ENST00000699918.1:c.*953T>A	ENSP00000514686.1:n.*953T>A
ENST00000699919.1:c.*1039T>A	ENSP00000514687.1:n.*1039T>A
ENST00000699920.1:c.*1088T>A	ENSP00000514688.1:n.*1088T>A
ENST00000699928.1:c.989-4322T>A	ENSP00000514693.1:n.989-4322T>A
ENST00000699929.1:c.*753T>A	ENSP00000514694.1:n.*753T>A
ENST00000699930.1:c.1344T>A	ENSP00000514695.1:p.Pro448=
ENST00000699931.1:n.2880T>A
ENST00000699951.1:c.*548T>A	ENSP00000514706.1:n.*548T>A
ENST00000699952.1:c.803+10013T>A	ENSP00000514707.1:n.803+10013T>A
ENST00000699953.1:c.*559T>A	ENSP00000514708.1:n.*559T>A
ENST00000699954.1:c.*753T>A	ENSP00000514709.1:n.*753T>A
ENST00000265849.12:c.1452T>A MANE Select	ENSP00000265849.7:p.Pro484=
ENST00000642292.1:c.1047T>A	ENSP00000495524.1:p.Pro349=
ENST00000642456.1:c.1047T>A	ENSP00000493814.1:p.Pro349=
ENST00000643595.1:c.*851T>A	ENSP00000494497.1:n.*851T>A
ENST00000644110.1:c.1134T>A	ENSP00000496392.1:p.Pro378=
ENST00000265849.11:c.1452T>A	ENSP00000265849.7:p.Pro484=
ENST00000382321.5:c.804-4322T>A	ENSP00000371758.4:n.804-4322T>A
ENST00000406569.7:n.1452T>A
ENST00000441476.6:c.1134T>A	ENSP00000392843.2:p.Pro378=
ENST00000469652.1:n.63-4408T>A
NM_000535.5:c.1452T>A , LRG_161t1:c.1452T>A	NP_000526.1:p.Pro484=
NR_003085.2:n.1534T>A
XM_006715742.2:c.1446T>A	XP_006715805.1:p.Pro482=
XM_006715744.2:c.519T>A	XP_006715807.1:p.Pro173=
XM_011515427.1:c.1497T>A	XP_011513729.1:p.Pro499=
XM_011515428.1:c.1341T>A	XP_011513730.1:p.Pro447=
XM_011515429.1:c.1134T>A	XP_011513731.1:p.Pro378=
XM_011515430.1:c.1134T>A	XP_011513732.1:p.Pro378=
NM_000535.6:c.1452T>A	NP_000526.2:p.Pro484=
NM_001322003.1:c.1047T>A	NP_001308932.1:p.Pro349=
NM_001322004.1:c.1047T>A	NP_001308933.1:p.Pro349=
NM_001322005.1:c.1047T>A	NP_001308934.1:p.Pro349=
NM_001322006.1:c.1296T>A	NP_001308935.1:p.Pro432=
NM_001322007.1:c.1134T>A	NP_001308936.1:p.Pro378=
NM_001322008.1:c.1134T>A	NP_001308937.1:p.Pro378=
NM_001322009.1:c.1047T>A	NP_001308938.1:p.Pro349=
NM_001322010.1:c.891T>A	NP_001308939.1:p.Pro297=
NM_001322011.1:c.519T>A	NP_001308940.1:p.Pro173=
NM_001322012.1:c.519T>A	NP_001308941.1:p.Pro173=
NM_001322013.1:c.879T>A	NP_001308942.1:p.Pro293=
NM_001322014.1:c.1452T>A	NP_001308943.1:p.Pro484=
NM_001322015.1:c.1143T>A	NP_001308944.1:p.Pro381=
NR_136154.1:n.1539T>A
XM_006715744.4:c.519T>A	XP_006715807.1:p.Pro173=
XM_017012342.2:c.519T>A	XP_016867831.1:p.Pro173=
XM_024446800.1:c.891T>A	XP_024302568.1:p.Pro297=
NM_000535.7:c.1452T>A MANE Select	NP_000526.2:p.Pro484=
NM_001322003.2:c.1047T>A	NP_001308932.1:p.Pro349=
NM_001322004.2:c.1047T>A	NP_001308933.1:p.Pro349=
NM_001322005.2:c.1047T>A	NP_001308934.1:p.Pro349=
NM_001322006.2:c.1296T>A	NP_001308935.1:p.Pro432=
NM_001322008.2:c.1134T>A	NP_001308937.1:p.Pro378=
NM_001322009.2:c.1047T>A	NP_001308938.1:p.Pro349=
NM_001322010.2:c.891T>A	NP_001308939.1:p.Pro297=
NM_001322011.2:c.519T>A	NP_001308940.1:p.Pro173=
NM_001322012.2:c.519T>A	NP_001308941.1:p.Pro173=
NM_001322013.2:c.879T>A	NP_001308942.1:p.Pro293=
NM_001322014.2:c.1452T>A	NP_001308943.1:p.Pro484=
NM_001322015.2:c.1143T>A	NP_001308944.1:p.Pro381=
NM_001322007.2:c.1134T>A	NP_001308936.1:p.Pro378=