Canonical Allele Identifier: CA366738839

Gene: PMS2

Linked Data

• ClinVar Variation Id: 455679
• ClinVar RCV Id: RCV000552459 ; RCV002420350 ; RCV003449545
• dbSNP Id: rs1554297040
• MyVariant Identifiers: chr7:g.6026389C>T (hg19) ; chr7:g.5986758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986758C>T , CM000669.2:g.5986758C>T	GRCh38
NC_000007.13:g.6026389C>T , CM000669.1:g.6026389C>T	GRCh37
NC_000007.12:g.5992915C>T	NCBI36
NG_008466.1:g.27349G>A , LRG_161:g.27349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1402+1G>A	ENSP00000514615.2:n.*1402+1G>A
ENST00000699840.2:c.2003+1G>A	ENSP00000514638.2:n.2003+1G>A
ENST00000699930.2:c.1898+1G>A	ENSP00000514695.2:n.1898+1G>A
ENST00000406569.8:c.1678+329G>A	ENSP00000514464.1:n.1678+329G>A
ENST00000644110.2:c.*1600+1G>A	ENSP00000496392.2:n.*1600+1G>A
ENST00000699752.1:c.1850+1G>A	ENSP00000514561.1:n.1850+1G>A
ENST00000699753.1:c.*1427+1G>A	ENSP00000514562.1:n.*1427+1G>A
ENST00000699754.1:c.1808+1G>A	ENSP00000514563.1:n.1808+1G>A
ENST00000699755.1:c.*1405+1G>A	ENSP00000514564.1:n.*1405+1G>A
ENST00000699756.1:c.*1593+1G>A	ENSP00000514565.1:n.*1593+1G>A
ENST00000699757.1:c.*1263+1G>A	ENSP00000514566.1:n.*1263+1G>A
ENST00000699758.1:c.*1263+1G>A	ENSP00000514567.1:n.*1263+1G>A
ENST00000699759.1:n.2860+1G>A
ENST00000699760.1:c.1688+1G>A	ENSP00000514568.1:n.1688+1G>A
ENST00000699761.1:c.1601+1G>A	ENSP00000514569.1:n.1601+1G>A
ENST00000699762.1:c.1433+1G>A	ENSP00000514570.1:n.1433+1G>A
ENST00000699763.1:c.*1096+1G>A	ENSP00000514571.1:n.*1096+1G>A
ENST00000699764.1:c.*324+1G>A	ENSP00000514572.1:n.*324+1G>A
ENST00000699765.1:c.*1102+1G>A	ENSP00000514573.1:n.*1102+1G>A
ENST00000699766.1:c.2006+1G>A	ENSP00000514574.1:n.2006+1G>A
ENST00000699767.1:c.2006+1G>A	ENSP00000514575.1:n.2006+1G>A
ENST00000699768.1:c.2006+1G>A	ENSP00000514576.1:n.2006+1G>A
ENST00000699811.1:c.1601+1G>A	ENSP00000514614.1:n.1601+1G>A
ENST00000699813.1:n.2119+1G>A
ENST00000699814.1:c.1629+1G>A
ENST00000699815.1:c.*1537+1G>A	ENSP00000514616.1:n.*1537+1G>A
ENST00000699816.1:c.*896+1G>A	ENSP00000514617.1:n.*896+1G>A
ENST00000699817.1:c.*1600+1G>A	ENSP00000514618.1:n.*1600+1G>A
ENST00000699818.1:c.1601+1G>A	ENSP00000514619.1:n.1601+1G>A
ENST00000699819.1:c.*1163+1G>A	ENSP00000514620.1:n.*1163+1G>A
ENST00000699820.1:c.1144+3042G>A	ENSP00000514621.1:n.1144+3042G>A
ENST00000699821.1:c.1601+1G>A	ENSP00000514622.1:n.1601+1G>A
ENST00000699822.1:c.*1458+1G>A	ENSP00000514623.1:n.*1458+1G>A
ENST00000699823.1:c.1601+1G>A	ENSP00000514624.1:n.1601+1G>A
ENST00000699824.1:c.*1509+1G>A	ENSP00000514625.1:n.*1509+1G>A
ENST00000699825.1:c.1445+1G>A	ENSP00000514626.1:n.1445+1G>A
ENST00000699826.1:c.*1405+1G>A	ENSP00000514627.1:n.*1405+1G>A
ENST00000699827.1:c.1838+1G>A	ENSP00000514628.1:n.1838+1G>A
ENST00000699828.1:c.*1096+1G>A	ENSP00000514629.1:n.*1096+1G>A
ENST00000699833.1:n.3778+1G>A
ENST00000699837.1:c.1601+1G>A	ENSP00000514635.1:n.1601+1G>A
ENST00000699838.1:c.*1906+1G>A	ENSP00000514636.1:n.*1906+1G>A
ENST00000699839.1:c.2192+1G>A	ENSP00000514637.1:n.2192+1G>A
ENST00000699916.1:c.*1263+1G>A	ENSP00000514684.1:n.*1263+1G>A
ENST00000699917.1:c.*1455+1G>A	ENSP00000514685.1:n.*1455+1G>A
ENST00000699918.1:c.*1507+1G>A	ENSP00000514686.1:n.*1507+1G>A
ENST00000699919.1:c.*1593+1G>A	ENSP00000514687.1:n.*1593+1G>A
ENST00000699920.1:c.*1642+1G>A	ENSP00000514688.1:n.*1642+1G>A
ENST00000699928.1:c.989-3767G>A	ENSP00000514693.1:n.989-3767G>A
ENST00000699951.1:c.*1102+1G>A	ENSP00000514706.1:n.*1102+1G>A
ENST00000699952.1:c.803+10568G>A	ENSP00000514707.1:n.803+10568G>A
ENST00000265849.12:c.2006+1G>A MANE Select	ENSP00000265849.7:n.2006+1G>A
ENST00000642292.1:c.1601+1G>A	ENSP00000495524.1:n.1601+1G>A
ENST00000642456.1:c.1601+1G>A	ENSP00000493814.1:n.1601+1G>A
ENST00000643595.1:c.*1405+1G>A	ENSP00000494497.1:n.*1405+1G>A
ENST00000644110.1:c.1688+1G>A	ENSP00000496392.1:n.1688+1G>A
ENST00000265849.11:c.2006+1G>A	ENSP00000265849.7:n.2006+1G>A
ENST00000382321.5:c.804-3767G>A	ENSP00000371758.4:n.804-3767G>A
ENST00000406569.7:n.1678+329G>A
ENST00000441476.6:c.1688+1G>A	ENSP00000392843.2:n.1688+1G>A
ENST00000469652.1:n.63-3853G>A
NM_000535.5:c.2006+1G>A , LRG_161t1:c.2006+1G>A	NP_000526.1:n.2006+1G>A
NR_003085.2:n.2088+1G>A
XM_006715742.2:c.2000+1G>A	XP_006715805.1:n.2000+1G>A
XM_006715744.2:c.1073+1G>A	XP_006715807.1:n.1073+1G>A
XM_011515427.1:c.2051+1G>A	XP_011513729.1:n.2051+1G>A
XM_011515428.1:c.1895+1G>A	XP_011513730.1:n.1895+1G>A
XM_011515429.1:c.1688+1G>A	XP_011513731.1:n.1688+1G>A
XM_011515430.1:c.1688+1G>A	XP_011513732.1:n.1688+1G>A
NM_000535.6:c.2006+1G>A	NP_000526.2:n.2006+1G>A
NM_001322003.1:c.1601+1G>A	NP_001308932.1:n.1601+1G>A
NM_001322004.1:c.1601+1G>A	NP_001308933.1:n.1601+1G>A
NM_001322005.1:c.1601+1G>A	NP_001308934.1:n.1601+1G>A
NM_001322006.1:c.1850+1G>A	NP_001308935.1:n.1850+1G>A
NM_001322007.1:c.1688+1G>A	NP_001308936.1:n.1688+1G>A
NM_001322008.1:c.1688+1G>A	NP_001308937.1:n.1688+1G>A
NM_001322009.1:c.1601+1G>A	NP_001308938.1:n.1601+1G>A
NM_001322010.1:c.1445+1G>A	NP_001308939.1:n.1445+1G>A
NM_001322011.1:c.1073+1G>A	NP_001308940.1:n.1073+1G>A
NM_001322012.1:c.1073+1G>A	NP_001308941.1:n.1073+1G>A
NM_001322013.1:c.1433+1G>A	NP_001308942.1:n.1433+1G>A
NM_001322014.1:c.2006+1G>A	NP_001308943.1:n.2006+1G>A
NM_001322015.1:c.1697+1G>A	NP_001308944.1:n.1697+1G>A
NR_136154.1:n.2093+1G>A
XM_006715744.4:c.1073+1G>A	XP_006715807.1:n.1073+1G>A
XM_017012342.2:c.1073+1G>A	XP_016867831.1:n.1073+1G>A
XM_024446800.1:c.1445+1G>A	XP_024302568.1:n.1445+1G>A
NM_000535.7:c.2006+1G>A MANE Select	NP_000526.2:n.2006+1G>A
NM_001322003.2:c.1601+1G>A	NP_001308932.1:n.1601+1G>A
NM_001322004.2:c.1601+1G>A	NP_001308933.1:n.1601+1G>A
NM_001322005.2:c.1601+1G>A	NP_001308934.1:n.1601+1G>A
NM_001322006.2:c.1850+1G>A	NP_001308935.1:n.1850+1G>A
NM_001322008.2:c.1688+1G>A	NP_001308937.1:n.1688+1G>A
NM_001322009.2:c.1601+1G>A	NP_001308938.1:n.1601+1G>A
NM_001322010.2:c.1445+1G>A	NP_001308939.1:n.1445+1G>A
NM_001322011.2:c.1073+1G>A	NP_001308940.1:n.1073+1G>A
NM_001322012.2:c.1073+1G>A	NP_001308941.1:n.1073+1G>A
NM_001322013.2:c.1433+1G>A	NP_001308942.1:n.1433+1G>A
NM_001322014.2:c.2006+1G>A	NP_001308943.1:n.2006+1G>A
NM_001322015.2:c.1697+1G>A	NP_001308944.1:n.1697+1G>A
NM_001322007.2:c.1688+1G>A	NP_001308936.1:n.1688+1G>A