Canonical Allele Identifier: CA366739492

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1781695
• ClinVar RCV Id: RCV002415112
• COSMIC: COSM1091079
• MyVariant Identifiers: chr7:g.6026525G>T (hg19) ; chr7:g.5986894G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986894G>T , CM000669.2:g.5986894G>T	GRCh38
NC_000007.13:g.6026525G>T , CM000669.1:g.6026525G>T	GRCh37
NC_000007.12:g.5993051G>T	NCBI36
NG_008466.1:g.27213C>A , LRG_161:g.27213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1267C>A	ENSP00000514615.2:n.*1267C>A
ENST00000699840.2:c.1868C>A	ENSP00000514638.2:p.Ser623Tyr
ENST00000699930.2:c.1763C>A	ENSP00000514695.2:p.Ser588Tyr
ENST00000406569.8:c.1678+193C>A	ENSP00000514464.1:n.1678+193C>A
ENST00000644110.2:c.*1465C>A	ENSP00000496392.2:n.*1465C>A
ENST00000699752.1:c.1715C>A	ENSP00000514561.1:p.Ser572Tyr
ENST00000699753.1:c.*1292C>A	ENSP00000514562.1:n.*1292C>A
ENST00000699754.1:c.1673C>A	ENSP00000514563.1:p.Ser558Tyr
ENST00000699755.1:c.*1270C>A	ENSP00000514564.1:n.*1270C>A
ENST00000699756.1:c.*1458C>A	ENSP00000514565.1:n.*1458C>A
ENST00000699757.1:c.*1128C>A	ENSP00000514566.1:n.*1128C>A
ENST00000699758.1:c.*1128C>A	ENSP00000514567.1:n.*1128C>A
ENST00000699759.1:n.2725C>A
ENST00000699760.1:c.1553C>A	ENSP00000514568.1:p.Ser518Tyr
ENST00000699761.1:c.1466C>A	ENSP00000514569.1:p.Ser489Tyr
ENST00000699762.1:c.1298C>A	ENSP00000514570.1:p.Ser433Tyr
ENST00000699763.1:c.*961C>A	ENSP00000514571.1:n.*961C>A
ENST00000699764.1:c.*189C>A	ENSP00000514572.1:n.*189C>A
ENST00000699765.1:c.*967C>A	ENSP00000514573.1:n.*967C>A
ENST00000699766.1:c.1871C>A	ENSP00000514574.1:p.Ser624Tyr
ENST00000699767.1:c.1871C>A	ENSP00000514575.1:p.Ser624Tyr
ENST00000699768.1:c.1871C>A	ENSP00000514576.1:p.Ser624Tyr
ENST00000699811.1:c.1466C>A	ENSP00000514614.1:p.Ser489Tyr
ENST00000699813.1:n.1984C>A
ENST00000699814.1:c.1494C>A
ENST00000699815.1:c.*1402C>A	ENSP00000514616.1:n.*1402C>A
ENST00000699816.1:c.*761C>A	ENSP00000514617.1:n.*761C>A
ENST00000699817.1:c.*1465C>A	ENSP00000514618.1:n.*1465C>A
ENST00000699818.1:c.1466C>A	ENSP00000514619.1:p.Ser489Tyr
ENST00000699819.1:c.*1028C>A	ENSP00000514620.1:n.*1028C>A
ENST00000699820.1:c.1144+2906C>A	ENSP00000514621.1:n.1144+2906C>A
ENST00000699821.1:c.1466C>A	ENSP00000514622.1:p.Ser489Tyr
ENST00000699822.1:c.*1323C>A	ENSP00000514623.1:n.*1323C>A
ENST00000699823.1:c.1466C>A	ENSP00000514624.1:p.Ser489Tyr
ENST00000699824.1:c.*1374C>A	ENSP00000514625.1:n.*1374C>A
ENST00000699825.1:c.1310C>A	ENSP00000514626.1:p.Ser437Tyr
ENST00000699826.1:c.*1270C>A	ENSP00000514627.1:n.*1270C>A
ENST00000699827.1:c.1703C>A	ENSP00000514628.1:p.Ser568Tyr
ENST00000699828.1:c.*961C>A	ENSP00000514629.1:n.*961C>A
ENST00000699833.1:n.3643C>A
ENST00000699837.1:c.1466C>A	ENSP00000514635.1:p.Ser489Tyr
ENST00000699838.1:c.*1771C>A	ENSP00000514636.1:n.*1771C>A
ENST00000699839.1:c.2057C>A	ENSP00000514637.1:p.Ser686Tyr
ENST00000699916.1:c.*1128C>A	ENSP00000514684.1:n.*1128C>A
ENST00000699917.1:c.*1320C>A	ENSP00000514685.1:n.*1320C>A
ENST00000699918.1:c.*1372C>A	ENSP00000514686.1:n.*1372C>A
ENST00000699919.1:c.*1458C>A	ENSP00000514687.1:n.*1458C>A
ENST00000699920.1:c.*1507C>A	ENSP00000514688.1:n.*1507C>A
ENST00000699928.1:c.989-3903C>A	ENSP00000514693.1:n.989-3903C>A
ENST00000699951.1:c.*967C>A	ENSP00000514706.1:n.*967C>A
ENST00000699952.1:c.803+10432C>A	ENSP00000514707.1:n.803+10432C>A
ENST00000265849.12:c.1871C>A MANE Select	ENSP00000265849.7:p.Ser624Tyr
ENST00000642292.1:c.1466C>A	ENSP00000495524.1:p.Ser489Tyr
ENST00000642456.1:c.1466C>A	ENSP00000493814.1:p.Ser489Tyr
ENST00000643595.1:c.*1270C>A	ENSP00000494497.1:n.*1270C>A
ENST00000644110.1:c.1553C>A	ENSP00000496392.1:p.Ser518Tyr
ENST00000265849.11:c.1871C>A	ENSP00000265849.7:p.Ser624Tyr
ENST00000382321.5:c.804-3903C>A	ENSP00000371758.4:n.804-3903C>A
ENST00000406569.7:n.1678+193C>A
ENST00000441476.6:c.1553C>A	ENSP00000392843.2:p.Ser518Tyr
ENST00000469652.1:n.63-3989C>A
NM_000535.5:c.1871C>A , LRG_161t1:c.1871C>A	NP_000526.1:p.Ser624Tyr
NR_003085.2:n.1953C>A
XM_006715742.2:c.1865C>A	XP_006715805.1:p.Ser622Tyr
XM_006715744.2:c.938C>A	XP_006715807.1:p.Ser313Tyr
XM_011515427.1:c.1916C>A	XP_011513729.1:p.Ser639Tyr
XM_011515428.1:c.1760C>A	XP_011513730.1:p.Ser587Tyr
XM_011515429.1:c.1553C>A	XP_011513731.1:p.Ser518Tyr
XM_011515430.1:c.1553C>A	XP_011513732.1:p.Ser518Tyr
NM_000535.6:c.1871C>A	NP_000526.2:p.Ser624Tyr
NM_001322003.1:c.1466C>A	NP_001308932.1:p.Ser489Tyr
NM_001322004.1:c.1466C>A	NP_001308933.1:p.Ser489Tyr
NM_001322005.1:c.1466C>A	NP_001308934.1:p.Ser489Tyr
NM_001322006.1:c.1715C>A	NP_001308935.1:p.Ser572Tyr
NM_001322007.1:c.1553C>A	NP_001308936.1:p.Ser518Tyr
NM_001322008.1:c.1553C>A	NP_001308937.1:p.Ser518Tyr
NM_001322009.1:c.1466C>A	NP_001308938.1:p.Ser489Tyr
NM_001322010.1:c.1310C>A	NP_001308939.1:p.Ser437Tyr
NM_001322011.1:c.938C>A	NP_001308940.1:p.Ser313Tyr
NM_001322012.1:c.938C>A	NP_001308941.1:p.Ser313Tyr
NM_001322013.1:c.1298C>A	NP_001308942.1:p.Ser433Tyr
NM_001322014.1:c.1871C>A	NP_001308943.1:p.Ser624Tyr
NM_001322015.1:c.1562C>A	NP_001308944.1:p.Ser521Tyr
NR_136154.1:n.1958C>A
XM_006715744.4:c.938C>A	XP_006715807.1:p.Ser313Tyr
XM_017012342.2:c.938C>A	XP_016867831.1:p.Ser313Tyr
XM_024446800.1:c.1310C>A	XP_024302568.1:p.Ser437Tyr
NM_000535.7:c.1871C>A MANE Select	NP_000526.2:p.Ser624Tyr
NM_001322003.2:c.1466C>A	NP_001308932.1:p.Ser489Tyr
NM_001322004.2:c.1466C>A	NP_001308933.1:p.Ser489Tyr
NM_001322005.2:c.1466C>A	NP_001308934.1:p.Ser489Tyr
NM_001322006.2:c.1715C>A	NP_001308935.1:p.Ser572Tyr
NM_001322008.2:c.1553C>A	NP_001308937.1:p.Ser518Tyr
NM_001322009.2:c.1466C>A	NP_001308938.1:p.Ser489Tyr
NM_001322010.2:c.1310C>A	NP_001308939.1:p.Ser437Tyr
NM_001322011.2:c.938C>A	NP_001308940.1:p.Ser313Tyr
NM_001322012.2:c.938C>A	NP_001308941.1:p.Ser313Tyr
NM_001322013.2:c.1298C>A	NP_001308942.1:p.Ser433Tyr
NM_001322014.2:c.1871C>A	NP_001308943.1:p.Ser624Tyr
NM_001322015.2:c.1562C>A	NP_001308944.1:p.Ser521Tyr
NM_001322007.2:c.1553C>A	NP_001308936.1:p.Ser518Tyr