Canonical Allele Identifier: CA453642995

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2708854
• ClinVar RCV Id: RCV003595062
• MyVariant Identifiers: chr7:g.6022460G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982829G>T , CM000669.2:g.5982829G>T	GRCh38
NC_000007.13:g.6022460G>T , CM000669.1:g.6022460G>T	GRCh37
NC_000007.12:g.5988986G>T	NCBI36
NG_008466.1:g.31278C>A , LRG_161:g.31278C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1565C>A	ENSP00000514615.2:n.*1565C>A
ENST00000699840.2:c.2166C>A	ENSP00000514638.2:p.Leu722=
ENST00000699930.2:c.2061C>A	ENSP00000514695.2:p.Leu687=
ENST00000406569.8:c.1678+4258C>A	ENSP00000514464.1:n.1678+4258C>A
ENST00000644110.2:c.*1763C>A	ENSP00000496392.2:n.*1763C>A
ENST00000699752.1:c.2013C>A	ENSP00000514561.1:p.Leu671=
ENST00000699753.1:c.*1590C>A	ENSP00000514562.1:n.*1590C>A
ENST00000699754.1:c.1971C>A	ENSP00000514563.1:p.Leu657=
ENST00000699755.1:c.*1568C>A	ENSP00000514564.1:n.*1568C>A
ENST00000699756.1:c.*1756C>A	ENSP00000514565.1:n.*1756C>A
ENST00000699757.1:c.*1426C>A	ENSP00000514566.1:n.*1426C>A
ENST00000699758.1:c.*1426C>A	ENSP00000514567.1:n.*1426C>A
ENST00000699759.1:n.3023C>A
ENST00000699760.1:c.1851C>A	ENSP00000514568.1:p.Leu617=
ENST00000699761.1:c.1764C>A	ENSP00000514569.1:p.Leu588=
ENST00000699762.1:c.1596C>A	ENSP00000514570.1:p.Leu532=
ENST00000699763.1:c.*1259C>A	ENSP00000514571.1:n.*1259C>A
ENST00000699764.1:c.*487C>A	ENSP00000514572.1:n.*487C>A
ENST00000699765.1:c.*1265C>A	ENSP00000514573.1:n.*1265C>A
ENST00000699766.1:c.2169C>A	ENSP00000514574.1:p.Leu723=
ENST00000699767.1:c.2169C>A	ENSP00000514575.1:p.Leu723=
ENST00000699768.1:c.2169C>A	ENSP00000514576.1:p.Leu723=
ENST00000699811.1:c.1764C>A	ENSP00000514614.1:p.Leu588=
ENST00000699813.1:n.2282C>A
ENST00000699814.1:c.1792C>A
ENST00000699815.1:c.*1700C>A	ENSP00000514616.1:n.*1700C>A
ENST00000699816.1:c.*1059C>A	ENSP00000514617.1:n.*1059C>A
ENST00000699817.1:c.*1763C>A	ENSP00000514618.1:n.*1763C>A
ENST00000699818.1:c.1764C>A	ENSP00000514619.1:p.Leu588=
ENST00000699819.1:c.*1326C>A	ENSP00000514620.1:n.*1326C>A
ENST00000699820.1:c.*107C>A	ENSP00000514621.1:n.*107C>A
ENST00000699821.1:c.1764C>A	ENSP00000514622.1:p.Leu588=
ENST00000699822.1:c.*1621C>A	ENSP00000514623.1:n.*1621C>A
ENST00000699823.1:c.1764C>A	ENSP00000514624.1:p.Leu588=
ENST00000699824.1:c.*1672C>A	ENSP00000514625.1:n.*1672C>A
ENST00000699825.1:c.1608C>A	ENSP00000514626.1:p.Leu536=
ENST00000699826.1:c.*1568C>A	ENSP00000514627.1:n.*1568C>A
ENST00000699827.1:c.2001C>A	ENSP00000514628.1:p.Leu667=
ENST00000699828.1:c.*1259C>A	ENSP00000514629.1:n.*1259C>A
ENST00000699833.1:n.3941C>A
ENST00000699837.1:c.1764C>A	ENSP00000514635.1:p.Leu588=
ENST00000699838.1:c.*2069C>A	ENSP00000514636.1:n.*2069C>A
ENST00000699839.1:c.2355C>A	ENSP00000514637.1:p.Leu785=
ENST00000699916.1:c.*1426C>A	ENSP00000514684.1:n.*1426C>A
ENST00000699917.1:c.*1618C>A	ENSP00000514685.1:n.*1618C>A
ENST00000699918.1:c.*1670C>A	ENSP00000514686.1:n.*1670C>A
ENST00000699919.1:c.*1756C>A	ENSP00000514687.1:n.*1756C>A
ENST00000699920.1:c.*1805C>A	ENSP00000514688.1:n.*1805C>A
ENST00000699928.1:c.*107C>A	ENSP00000514693.1:n.*107C>A
ENST00000699951.1:c.*1265C>A	ENSP00000514706.1:n.*1265C>A
ENST00000699952.1:c.804-9287C>A	ENSP00000514707.1:n.804-9287C>A
ENST00000265849.12:c.2169C>A MANE Select	ENSP00000265849.7:p.Leu723=
ENST00000642292.1:c.1764C>A	ENSP00000495524.1:p.Leu588=
ENST00000642456.1:c.1764C>A	ENSP00000493814.1:p.Leu588=
ENST00000643595.1:c.*1568C>A	ENSP00000494497.1:n.*1568C>A
ENST00000644110.1:c.1851C>A	ENSP00000496392.1:p.Leu617=
ENST00000265849.11:c.2169C>A	ENSP00000265849.7:p.Leu723=
ENST00000382321.5:c.966C>A	ENSP00000371758.4:p.Leu322=
ENST00000406569.7:n.1678+4258C>A
ENST00000441476.6:c.1851C>A	ENSP00000392843.2:p.Leu617=
NM_000535.5:c.2169C>A , LRG_161t1:c.2169C>A	NP_000526.1:p.Leu723=
NR_003085.2:n.2251C>A
XM_006715742.2:c.2163C>A	XP_006715805.1:p.Leu721=
XM_006715744.2:c.1236C>A	XP_006715807.1:p.Leu412=
XM_011515427.1:c.2214C>A	XP_011513729.1:p.Leu738=
XM_011515428.1:c.2058C>A	XP_011513730.1:p.Leu686=
XM_011515429.1:c.1851C>A	XP_011513731.1:p.Leu617=
XM_011515430.1:c.1851C>A	XP_011513732.1:p.Leu617=
NM_000535.6:c.2169C>A	NP_000526.2:p.Leu723=
NM_001322003.1:c.1764C>A	NP_001308932.1:p.Leu588=
NM_001322004.1:c.1764C>A	NP_001308933.1:p.Leu588=
NM_001322005.1:c.1764C>A	NP_001308934.1:p.Leu588=
NM_001322006.1:c.2013C>A	NP_001308935.1:p.Leu671=
NM_001322007.1:c.1851C>A	NP_001308936.1:p.Leu617=
NM_001322008.1:c.1851C>A	NP_001308937.1:p.Leu617=
NM_001322009.1:c.1764C>A	NP_001308938.1:p.Leu588=
NM_001322010.1:c.1608C>A	NP_001308939.1:p.Leu536=
NM_001322011.1:c.1236C>A	NP_001308940.1:p.Leu412=
NM_001322012.1:c.1236C>A	NP_001308941.1:p.Leu412=
NM_001322013.1:c.1596C>A	NP_001308942.1:p.Leu532=
NM_001322014.1:c.2169C>A	NP_001308943.1:p.Leu723=
NM_001322015.1:c.1860C>A	NP_001308944.1:p.Leu620=
NR_136154.1:n.2256C>A
XM_006715744.4:c.1236C>A	XP_006715807.1:p.Leu412=
XM_017012342.2:c.1236C>A	XP_016867831.1:p.Leu412=
XM_024446800.1:c.1608C>A	XP_024302568.1:p.Leu536=
NM_000535.7:c.2169C>A MANE Select	NP_000526.2:p.Leu723=
NM_001322003.2:c.1764C>A	NP_001308932.1:p.Leu588=
NM_001322004.2:c.1764C>A	NP_001308933.1:p.Leu588=
NM_001322005.2:c.1764C>A	NP_001308934.1:p.Leu588=
NM_001322006.2:c.2013C>A	NP_001308935.1:p.Leu671=
NM_001322008.2:c.1851C>A	NP_001308937.1:p.Leu617=
NM_001322009.2:c.1764C>A	NP_001308938.1:p.Leu588=
NM_001322010.2:c.1608C>A	NP_001308939.1:p.Leu536=
NM_001322011.2:c.1236C>A	NP_001308940.1:p.Leu412=
NM_001322012.2:c.1236C>A	NP_001308941.1:p.Leu412=
NM_001322013.2:c.1596C>A	NP_001308942.1:p.Leu532=
NM_001322014.2:c.2169C>A	NP_001308943.1:p.Leu723=
NM_001322015.2:c.1860C>A	NP_001308944.1:p.Leu620=
NM_001322007.2:c.1851C>A	NP_001308936.1:p.Leu617=