Canonical Allele Identifier: CA2695198396
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674224
ClinVar RCV Id: RCV003452420

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5977608_5977609del , CM000669.2:g.5977608_5977609del GRCh38
NC_000007.13:g.6017239_6017240del , CM000669.1:g.6017239_6017240del GRCh37
NC_000007.12:g.5983765_5983766del NCBI36
NG_008466.1:g.36499_36500del , LRG_161:g.36499_36500del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1821_*1822del ENSP00000514615.2:n.*1821_*1822del
ENST00000699840.2:c.2422_2423del ENSP00000514638.2:p.Ser808GlnfsTer14
ENST00000699930.2:c.2317_2318del ENSP00000514695.2:p.Ser773GlnfsTer14
ENST00000406569.8:c.1785_1786del ENSP00000514464.1:n.1785_1786del
ENST00000644110.2:c.*2019_*2020del ENSP00000496392.2:n.*2019_*2020del
ENST00000699752.1:c.2269_2270del ENSP00000514561.1:p.Ser757GlnfsTer14
ENST00000699753.1:c.*1846_*1847del ENSP00000514562.1:n.*1846_*1847del
ENST00000699754.1:c.2227_2228del ENSP00000514563.1:p.Ser743GlnfsTer14
ENST00000699755.1:c.*1824_*1825del ENSP00000514564.1:n.*1824_*1825del
ENST00000699756.1:c.*2012_*2013del ENSP00000514565.1:n.*2012_*2013del
ENST00000699757.1:c.*1682_*1683del ENSP00000514566.1:n.*1682_*1683del
ENST00000699758.1:c.*1682_*1683del ENSP00000514567.1:n.*1682_*1683del
ENST00000699759.1:n.3279_3280del
ENST00000699760.1:c.2107_2108del ENSP00000514568.1:p.Ser703GlnfsTer14
ENST00000699761.1:c.2020_2021del ENSP00000514569.1:p.Ser674GlnfsTer14
ENST00000699762.1:c.1852_1853del ENSP00000514570.1:p.Ser618GlnfsTer14
ENST00000699763.1:c.*1515_*1516del ENSP00000514571.1:n.*1515_*1516del
ENST00000699764.1:c.*743_*744del ENSP00000514572.1:n.*743_*744del
ENST00000699765.1:c.*1420_*1421del ENSP00000514573.1:n.*1420_*1421del
ENST00000699766.1:c.2458_2459del ENSP00000514574.1:p.Ser820GlnfsTer14
ENST00000699767.1:c.*66_*67del ENSP00000514575.1:n.*66_*67del
ENST00000699768.1:c.2281_2282del ENSP00000514576.1:p.Ser761GlnfsTer14
ENST00000699811.1:c.2020_2021del ENSP00000514614.1:p.Ser674GlnfsTer14
ENST00000699813.1:n.2538_2539del
ENST00000699814.1:c.2048_2049del
ENST00000699815.1:c.*1956_*1957del ENSP00000514616.1:n.*1956_*1957del
ENST00000699816.1:c.*1315_*1316del ENSP00000514617.1:n.*1315_*1316del
ENST00000699817.1:c.*2019_*2020del ENSP00000514618.1:n.*2019_*2020del
ENST00000699818.1:c.2020_2021del ENSP00000514619.1:p.Ser674GlnfsTer14
ENST00000699819.1:c.*1582_*1583del ENSP00000514620.1:n.*1582_*1583del
ENST00000699820.1:c.*363_*364del ENSP00000514621.1:n.*363_*364del
ENST00000699821.1:c.2053_2054del ENSP00000514622.1:p.Ser685GlnfsTer14
ENST00000699822.1:c.*1877_*1878del ENSP00000514623.1:n.*1877_*1878del
ENST00000699823.1:c.2020_2021del ENSP00000514624.1:p.Ser674GlnfsTer14
ENST00000699824.1:c.*1928_*1929del ENSP00000514625.1:n.*1928_*1929del
ENST00000699825.1:c.1864_1865del ENSP00000514626.1:p.Ser622GlnfsTer14
ENST00000699826.1:c.*1824_*1825del ENSP00000514627.1:n.*1824_*1825del
ENST00000699827.1:c.2257_2258del ENSP00000514628.1:p.Ser753GlnfsTer14
ENST00000699828.1:c.*1515_*1516del ENSP00000514629.1:n.*1515_*1516del
ENST00000699833.1:n.4197_4198del
ENST00000699837.1:c.2020_2021del ENSP00000514635.1:p.Ser674GlnfsTer14
ENST00000699838.1:c.*2325_*2326del ENSP00000514636.1:n.*2325_*2326del
ENST00000699839.1:c.2611_2612del ENSP00000514637.1:p.Ser871GlnfsTer14
ENST00000699916.1:c.*1682_*1683del ENSP00000514684.1:n.*1682_*1683del
ENST00000699917.1:c.*1874_*1875del ENSP00000514685.1:n.*1874_*1875del
ENST00000699918.1:c.*1926_*1927del ENSP00000514686.1:n.*1926_*1927del
ENST00000699919.1:c.*2012_*2013del ENSP00000514687.1:n.*2012_*2013del
ENST00000699920.1:c.*2061_*2062del ENSP00000514688.1:n.*2061_*2062del
ENST00000699928.1:c.*363_*364del ENSP00000514693.1:n.*363_*364del
ENST00000699951.1:c.*1478_*1479del ENSP00000514706.1:n.*1478_*1479del
ENST00000699952.1:c.804-4066_804-4065del ENSP00000514707.1:n.804-4066_804-4065del
ENST00000265849.12:c.2425_2426del MANE Select ENSP00000265849.7:p.Ser809GlnfsTer14
ENST00000642292.1:c.2020_2021del ENSP00000495524.1:p.Ser674GlnfsTer14
ENST00000642456.1:c.2020_2021del ENSP00000493814.1:p.Ser674GlnfsTer14
ENST00000643595.1:c.*1824_*1825del ENSP00000494497.1:n.*1824_*1825del
ENST00000644110.1:c.2107_2108del ENSP00000496392.1:p.Ser703GlnfsTer14
ENST00000265849.11:c.2425_2426del ENSP00000265849.7:p.Ser809GlnfsTer14
ENST00000382321.5:c.1222_1223del ENSP00000371758.4:p.Ser408GlnfsTer14
ENST00000441476.6:c.2107_2108del ENSP00000392843.2:p.Ser703GlnfsTer14
NM_000535.5:c.2425_2426del , LRG_161t1:c.2425_2426del NP_000526.1:p.Ser809GlnfsTer14
NR_003085.2:n.2507_2508del
XM_006715742.2:c.2419_2420del XP_006715805.1:p.Ser807GlnfsTer14
XM_006715744.2:c.1492_1493del XP_006715807.1:p.Ser498GlnfsTer14
XM_011515427.1:c.2470_2471del XP_011513729.1:p.Ser824GlnfsTer14
XM_011515428.1:c.2314_2315del XP_011513730.1:p.Ser772GlnfsTer14
XM_011515429.1:c.2107_2108del XP_011513731.1:p.Ser703GlnfsTer14
XM_011515430.1:c.2107_2108del XP_011513732.1:p.Ser703GlnfsTer14
NM_000535.6:c.2425_2426del NP_000526.2:p.Ser809GlnfsTer14
NM_001322003.1:c.2020_2021del NP_001308932.1:p.Ser674GlnfsTer14
NM_001322004.1:c.2020_2021del NP_001308933.1:p.Ser674GlnfsTer14
NM_001322005.1:c.2020_2021del NP_001308934.1:p.Ser674GlnfsTer14
NM_001322006.1:c.2269_2270del NP_001308935.1:p.Ser757GlnfsTer14
NM_001322007.1:c.2107_2108del NP_001308936.1:p.Ser703GlnfsTer14
NM_001322008.1:c.2107_2108del NP_001308937.1:p.Ser703GlnfsTer14
NM_001322009.1:c.2053_2054del NP_001308938.1:p.Ser685GlnfsTer14
NM_001322010.1:c.1864_1865del NP_001308939.1:p.Ser622GlnfsTer14
NM_001322011.1:c.1492_1493del NP_001308940.1:p.Ser498GlnfsTer14
NM_001322012.1:c.1492_1493del NP_001308941.1:p.Ser498GlnfsTer14
NM_001322013.1:c.1852_1853del NP_001308942.1:p.Ser618GlnfsTer14
NM_001322014.1:c.2458_2459del NP_001308943.1:p.Ser820GlnfsTer14
NM_001322015.1:c.2116_2117del NP_001308944.1:p.Ser706GlnfsTer14
NR_136154.1:n.2469_2470del
XM_006715744.4:c.1492_1493del XP_006715807.1:p.Ser498GlnfsTer14
XM_017012342.2:c.1492_1493del XP_016867831.1:p.Ser498GlnfsTer14
XM_024446800.1:c.1864_1865del XP_024302568.1:p.Ser622GlnfsTer14
NM_000535.7:c.2425_2426del MANE Select NP_000526.2:p.Ser809GlnfsTer14
NM_001322003.2:c.2020_2021del NP_001308932.1:p.Ser674GlnfsTer14
NM_001322004.2:c.2020_2021del NP_001308933.1:p.Ser674GlnfsTer14
NM_001322005.2:c.2020_2021del NP_001308934.1:p.Ser674GlnfsTer14
NM_001322006.2:c.2269_2270del NP_001308935.1:p.Ser757GlnfsTer14
NM_001322008.2:c.2107_2108del NP_001308937.1:p.Ser703GlnfsTer14
NM_001322009.2:c.2053_2054del NP_001308938.1:p.Ser685GlnfsTer14
NM_001322010.2:c.1864_1865del NP_001308939.1:p.Ser622GlnfsTer14
NM_001322011.2:c.1492_1493del NP_001308940.1:p.Ser498GlnfsTer14
NM_001322012.2:c.1492_1493del NP_001308941.1:p.Ser498GlnfsTer14
NM_001322013.2:c.1852_1853del NP_001308942.1:p.Ser618GlnfsTer14
NM_001322014.2:c.2458_2459del NP_001308943.1:p.Ser820GlnfsTer14
NM_001322015.2:c.2116_2117del NP_001308944.1:p.Ser706GlnfsTer14
NM_001322007.2:c.2107_2108del NP_001308936.1:p.Ser703GlnfsTer14