Canonical Allele Identifier: CA2580615838

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1793011
• ClinVar RCV Id: RCV002433338

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973434_5973435del , CM000669.2:g.5973434_5973435del	GRCh38
NC_000007.13:g.6013065_6013066del , CM000669.1:g.6013065_6013066del	GRCh37
NC_000007.12:g.5979591_5979592del	NCBI36
NG_008466.1:g.40675_40676del , LRG_161:g.40675_40676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1952_*1953del	ENSP00000514615.2:n.*1952_*1953del
ENST00000699840.2:c.2553_2554del	ENSP00000514638.2:p.Ile852ArgfsTer?
ENST00000699930.2:c.2448_2449del	ENSP00000514695.2:p.Ile817ArgfsTer?
ENST00000406569.8:c.1916_1917del	ENSP00000514464.1:n.1916_1917del
ENST00000644110.2:c.*2150_*2151del	ENSP00000496392.2:n.*2150_*2151del
ENST00000699752.1:c.2400_2401del	ENSP00000514561.1:p.Ile801ArgfsTer?
ENST00000699753.1:c.*1977_*1978del	ENSP00000514562.1:n.*1977_*1978del
ENST00000699754.1:c.2358_2359del	ENSP00000514563.1:p.Ile787ArgfsTer?
ENST00000699755.1:c.*1955_*1956del	ENSP00000514564.1:n.*1955_*1956del
ENST00000699756.1:c.*2143_*2144del	ENSP00000514565.1:n.*2143_*2144del
ENST00000699757.1:c.*1813_*1814del	ENSP00000514566.1:n.*1813_*1814del
ENST00000699758.1:c.*1813_*1814del	ENSP00000514567.1:n.*1813_*1814del
ENST00000699759.1:n.3410_3411del
ENST00000699760.1:c.2238_2239del	ENSP00000514568.1:p.Ile747ArgfsTer?
ENST00000699761.1:c.2151_2152del	ENSP00000514569.1:p.Ile718ArgfsTer?
ENST00000699762.1:c.1983_1984del	ENSP00000514570.1:p.Ile662ArgfsTer?
ENST00000699763.1:c.*1646_*1647del	ENSP00000514571.1:n.*1646_*1647del
ENST00000699764.1:c.*874_*875del	ENSP00000514572.1:n.*874_*875del
ENST00000699765.1:c.*1551_*1552del	ENSP00000514573.1:n.*1551_*1552del
ENST00000699766.1:c.2589_2590del	ENSP00000514574.1:p.Ile864ArgfsTer?
ENST00000699767.1:c.*197_*198del	ENSP00000514575.1:n.*197_*198del
ENST00000699768.1:c.2412_2413del	ENSP00000514576.1:p.Ile805ArgfsTer?
ENST00000699811.1:c.2151_2152del	ENSP00000514614.1:p.Ile718ArgfsTer?
ENST00000699813.1:n.2669_2670del
ENST00000699814.1:c.2179_2180del
ENST00000699815.1:c.*2087_*2088del	ENSP00000514616.1:n.*2087_*2088del
ENST00000699816.1:c.*1446_*1447del	ENSP00000514617.1:n.*1446_*1447del
ENST00000699817.1:c.*2150_*2151del	ENSP00000514618.1:n.*2150_*2151del
ENST00000699818.1:c.2151_2152del	ENSP00000514619.1:p.Ile718ArgfsTer?
ENST00000699819.1:c.*1713_*1714del	ENSP00000514620.1:n.*1713_*1714del
ENST00000699820.1:c.*494_*495del	ENSP00000514621.1:n.*494_*495del
ENST00000699821.1:c.2184_2185del	ENSP00000514622.1:p.Ile729ArgfsTer?
ENST00000699822.1:c.*2008_*2009del	ENSP00000514623.1:n.*2008_*2009del
ENST00000699823.1:c.2151_2152del	ENSP00000514624.1:p.Ile718ArgfsTer?
ENST00000699824.1:c.*2059_*2060del	ENSP00000514625.1:n.*2059_*2060del
ENST00000699825.1:c.1995_1996del	ENSP00000514626.1:p.Ile666ArgfsTer?
ENST00000699826.1:c.*1955_*1956del	ENSP00000514627.1:n.*1955_*1956del
ENST00000699827.1:c.2388_2389del	ENSP00000514628.1:p.Ile797ArgfsTer?
ENST00000699828.1:c.*1646_*1647del	ENSP00000514629.1:n.*1646_*1647del
ENST00000699833.1:n.4328_4329del
ENST00000699837.1:c.2151_2152del	ENSP00000514635.1:p.Ile718ArgfsTer?
ENST00000699838.1:c.*2456_*2457del	ENSP00000514636.1:n.*2456_*2457del
ENST00000699839.1:c.2742_2743del	ENSP00000514637.1:p.Ile915ArgfsTer?
ENST00000699916.1:c.*1813_*1814del	ENSP00000514684.1:n.*1813_*1814del
ENST00000699917.1:c.*2005_*2006del	ENSP00000514685.1:n.*2005_*2006del
ENST00000699918.1:c.*2057_*2058del	ENSP00000514686.1:n.*2057_*2058del
ENST00000699919.1:c.*2143_*2144del	ENSP00000514687.1:n.*2143_*2144del
ENST00000699920.1:c.*2192_*2193del	ENSP00000514688.1:n.*2192_*2193del
ENST00000699928.1:c.*494_*495del	ENSP00000514693.1:n.*494_*495del
ENST00000699951.1:c.*1609_*1610del	ENSP00000514706.1:n.*1609_*1610del
ENST00000699952.1:c.*110_*111del	ENSP00000514707.1:n.*110_*111del
ENST00000265849.12:c.2556_2557del MANE Select	ENSP00000265849.7:p.Ile853ArgfsTer?
ENST00000642292.1:c.2151_2152del	ENSP00000495524.1:p.Ile718ArgfsTer?
ENST00000642456.1:c.2151_2152del	ENSP00000493814.1:p.Ile718ArgfsTer?
ENST00000643595.1:c.*1955_*1956del	ENSP00000494497.1:n.*1955_*1956del
ENST00000644110.1:c.2238_2239del	ENSP00000496392.1:p.Ile747ArgfsTer?
ENST00000265849.11:c.2556_2557del	ENSP00000265849.7:p.Ile853ArgfsTer?
ENST00000382321.5:c.1353_1354del	ENSP00000371758.4:p.Ile452ArgfsTer?
ENST00000441476.6:c.2238_2239del	ENSP00000392843.2:p.Ile747ArgfsTer?
NM_000535.5:c.2556_2557del , LRG_161t1:c.2556_2557del	NP_000526.1:p.Ile853ArgfsTer?
NR_003085.2:n.2638_2639del
XM_006715742.2:c.2550_2551del	XP_006715805.1:p.Ile851ArgfsTer?
XM_006715744.2:c.1623_1624del	XP_006715807.1:p.Ile542ArgfsTer?
XM_011515427.1:c.2601_2602del	XP_011513729.1:p.Ile868ArgfsTer?
XM_011515428.1:c.2445_2446del	XP_011513730.1:p.Ile816ArgfsTer?
XM_011515429.1:c.2238_2239del	XP_011513731.1:p.Ile747ArgfsTer?
XM_011515430.1:c.2238_2239del	XP_011513732.1:p.Ile747ArgfsTer?
NM_000535.6:c.2556_2557del	NP_000526.2:p.Ile853ArgfsTer?
NM_001322003.1:c.2151_2152del	NP_001308932.1:p.Ile718ArgfsTer?
NM_001322004.1:c.2151_2152del	NP_001308933.1:p.Ile718ArgfsTer?
NM_001322005.1:c.2151_2152del	NP_001308934.1:p.Ile718ArgfsTer?
NM_001322006.1:c.2400_2401del	NP_001308935.1:p.Ile801ArgfsTer?
NM_001322007.1:c.2238_2239del	NP_001308936.1:p.Ile747ArgfsTer?
NM_001322008.1:c.2238_2239del	NP_001308937.1:p.Ile747ArgfsTer?
NM_001322009.1:c.2184_2185del	NP_001308938.1:p.Ile729ArgfsTer?
NM_001322010.1:c.1995_1996del	NP_001308939.1:p.Ile666ArgfsTer?
NM_001322011.1:c.1623_1624del	NP_001308940.1:p.Ile542ArgfsTer?
NM_001322012.1:c.1623_1624del	NP_001308941.1:p.Ile542ArgfsTer?
NM_001322013.1:c.1983_1984del	NP_001308942.1:p.Ile662ArgfsTer?
NM_001322014.1:c.2589_2590del	NP_001308943.1:p.Ile864ArgfsTer?
NM_001322015.1:c.2247_2248del	NP_001308944.1:p.Ile750ArgfsTer?
NR_136154.1:n.2600_2601del
XM_006715744.4:c.1623_1624del	XP_006715807.1:p.Ile542ArgfsTer?
XM_017012342.2:c.1623_1624del	XP_016867831.1:p.Ile542ArgfsTer?
XM_024446800.1:c.1995_1996del	XP_024302568.1:p.Ile666ArgfsTer?
NM_000535.7:c.2556_2557del MANE Select	NP_000526.2:p.Ile853ArgfsTer?
NM_001322003.2:c.2151_2152del	NP_001308932.1:p.Ile718ArgfsTer?
NM_001322004.2:c.2151_2152del	NP_001308933.1:p.Ile718ArgfsTer?
NM_001322005.2:c.2151_2152del	NP_001308934.1:p.Ile718ArgfsTer?
NM_001322006.2:c.2400_2401del	NP_001308935.1:p.Ile801ArgfsTer?
NM_001322008.2:c.2238_2239del	NP_001308937.1:p.Ile747ArgfsTer?
NM_001322009.2:c.2184_2185del	NP_001308938.1:p.Ile729ArgfsTer?
NM_001322010.2:c.1995_1996del	NP_001308939.1:p.Ile666ArgfsTer?
NM_001322011.2:c.1623_1624del	NP_001308940.1:p.Ile542ArgfsTer?
NM_001322012.2:c.1623_1624del	NP_001308941.1:p.Ile542ArgfsTer?
NM_001322013.2:c.1983_1984del	NP_001308942.1:p.Ile662ArgfsTer?
NM_001322014.2:c.2589_2590del	NP_001308943.1:p.Ile864ArgfsTer?
NM_001322015.2:c.2247_2248del	NP_001308944.1:p.Ile750ArgfsTer?
NM_001322007.2:c.2238_2239del	NP_001308936.1:p.Ile747ArgfsTer?