Canonical Allele Identifier: CA011492

Gene: PMS2

Linked Data

• ClinVar Variation Id: 142715
• ClinVar RCV Id: RCV000132085 ; RCV000231154 ; RCV000478307 ; RCV003467189
• dbSNP Id: rs587782665
• gnomAD v2: 7-6017226-C-A
• gnomAD v3: 7-5977595-C-A
• gnomAD v4: 7-5977595-C-A
• MyVariant Identifiers: chr7:g.6017226C>A (hg19) ; chr7:g.5977595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977595C>A , CM000669.2:g.5977595C>A	GRCh38
NC_000007.13:g.6017226C>A , CM000669.1:g.6017226C>A	GRCh37
NC_000007.12:g.5983752C>A	NCBI36
NG_008466.1:g.36512G>T , LRG_161:g.36512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1834G>T	ENSP00000514615.2:n.*1834G>T
ENST00000699840.2:c.2435G>T	ENSP00000514638.2:p.Arg812Leu
ENST00000699930.2:c.2330G>T	ENSP00000514695.2:p.Arg777Leu
ENST00000406569.8:c.1798G>T	ENSP00000514464.1:n.1798G>T
ENST00000644110.2:c.*2032G>T	ENSP00000496392.2:n.*2032G>T
ENST00000699752.1:c.2282G>T	ENSP00000514561.1:p.Arg761Leu
ENST00000699753.1:c.*1859G>T	ENSP00000514562.1:n.*1859G>T
ENST00000699754.1:c.2240G>T	ENSP00000514563.1:p.Arg747Leu
ENST00000699755.1:c.*1837G>T	ENSP00000514564.1:n.*1837G>T
ENST00000699756.1:c.*2025G>T	ENSP00000514565.1:n.*2025G>T
ENST00000699757.1:c.*1695G>T	ENSP00000514566.1:n.*1695G>T
ENST00000699758.1:c.*1695G>T	ENSP00000514567.1:n.*1695G>T
ENST00000699759.1:n.3292G>T
ENST00000699760.1:c.2120G>T	ENSP00000514568.1:p.Arg707Leu
ENST00000699761.1:c.2033G>T	ENSP00000514569.1:p.Arg678Leu
ENST00000699762.1:c.1865G>T	ENSP00000514570.1:p.Arg622Leu
ENST00000699763.1:c.*1528G>T	ENSP00000514571.1:n.*1528G>T
ENST00000699764.1:c.*756G>T	ENSP00000514572.1:n.*756G>T
ENST00000699765.1:c.*1433G>T	ENSP00000514573.1:n.*1433G>T
ENST00000699766.1:c.2471G>T	ENSP00000514574.1:p.Arg824Leu
ENST00000699767.1:c.*79G>T	ENSP00000514575.1:n.*79G>T
ENST00000699768.1:c.2294G>T	ENSP00000514576.1:p.Arg765Leu
ENST00000699811.1:c.2033G>T	ENSP00000514614.1:p.Arg678Leu
ENST00000699813.1:n.2551G>T
ENST00000699814.1:c.2061G>T
ENST00000699815.1:c.*1969G>T	ENSP00000514616.1:n.*1969G>T
ENST00000699816.1:c.*1328G>T	ENSP00000514617.1:n.*1328G>T
ENST00000699817.1:c.*2032G>T	ENSP00000514618.1:n.*2032G>T
ENST00000699818.1:c.2033G>T	ENSP00000514619.1:p.Arg678Leu
ENST00000699819.1:c.*1595G>T	ENSP00000514620.1:n.*1595G>T
ENST00000699820.1:c.*376G>T	ENSP00000514621.1:n.*376G>T
ENST00000699821.1:c.2066G>T	ENSP00000514622.1:p.Arg689Leu
ENST00000699822.1:c.*1890G>T	ENSP00000514623.1:n.*1890G>T
ENST00000699823.1:c.2033G>T	ENSP00000514624.1:p.Arg678Leu
ENST00000699824.1:c.*1941G>T	ENSP00000514625.1:n.*1941G>T
ENST00000699825.1:c.1877G>T	ENSP00000514626.1:p.Arg626Leu
ENST00000699826.1:c.*1837G>T	ENSP00000514627.1:n.*1837G>T
ENST00000699827.1:c.2270G>T	ENSP00000514628.1:p.Arg757Leu
ENST00000699828.1:c.*1528G>T	ENSP00000514629.1:n.*1528G>T
ENST00000699833.1:n.4210G>T
ENST00000699837.1:c.2033G>T	ENSP00000514635.1:p.Arg678Leu
ENST00000699838.1:c.*2338G>T	ENSP00000514636.1:n.*2338G>T
ENST00000699839.1:c.2624G>T	ENSP00000514637.1:p.Arg875Leu
ENST00000699916.1:c.*1695G>T	ENSP00000514684.1:n.*1695G>T
ENST00000699917.1:c.*1887G>T	ENSP00000514685.1:n.*1887G>T
ENST00000699918.1:c.*1939G>T	ENSP00000514686.1:n.*1939G>T
ENST00000699919.1:c.*2025G>T	ENSP00000514687.1:n.*2025G>T
ENST00000699920.1:c.*2074G>T	ENSP00000514688.1:n.*2074G>T
ENST00000699928.1:c.*376G>T	ENSP00000514693.1:n.*376G>T
ENST00000699951.1:c.*1491G>T	ENSP00000514706.1:n.*1491G>T
ENST00000699952.1:c.804-4053G>T	ENSP00000514707.1:n.804-4053G>T
ENST00000265849.12:c.2438G>T MANE Select	ENSP00000265849.7:p.Arg813Leu
ENST00000642292.1:c.2033G>T	ENSP00000495524.1:p.Arg678Leu
ENST00000642456.1:c.2033G>T	ENSP00000493814.1:p.Arg678Leu
ENST00000643595.1:c.*1837G>T	ENSP00000494497.1:n.*1837G>T
ENST00000644110.1:c.2120G>T	ENSP00000496392.1:p.Arg707Leu
ENST00000265849.11:c.2438G>T	ENSP00000265849.7:p.Arg813Leu
ENST00000382321.5:c.1235G>T	ENSP00000371758.4:p.Arg412Leu
ENST00000441476.6:c.2120G>T	ENSP00000392843.2:p.Arg707Leu
NM_000535.5:c.2438G>T , LRG_161t1:c.2438G>T	NP_000526.1:p.Arg813Leu
NR_003085.2:n.2520G>T
XM_006715742.2:c.2432G>T	XP_006715805.1:p.Arg811Leu
XM_006715744.2:c.1505G>T	XP_006715807.1:p.Arg502Leu
XM_011515427.1:c.2483G>T	XP_011513729.1:p.Arg828Leu
XM_011515428.1:c.2327G>T	XP_011513730.1:p.Arg776Leu
XM_011515429.1:c.2120G>T	XP_011513731.1:p.Arg707Leu
XM_011515430.1:c.2120G>T	XP_011513732.1:p.Arg707Leu
NM_000535.6:c.2438G>T	NP_000526.2:p.Arg813Leu
NM_001322003.1:c.2033G>T	NP_001308932.1:p.Arg678Leu
NM_001322004.1:c.2033G>T	NP_001308933.1:p.Arg678Leu
NM_001322005.1:c.2033G>T	NP_001308934.1:p.Arg678Leu
NM_001322006.1:c.2282G>T	NP_001308935.1:p.Arg761Leu
NM_001322007.1:c.2120G>T	NP_001308936.1:p.Arg707Leu
NM_001322008.1:c.2120G>T	NP_001308937.1:p.Arg707Leu
NM_001322009.1:c.2066G>T	NP_001308938.1:p.Arg689Leu
NM_001322010.1:c.1877G>T	NP_001308939.1:p.Arg626Leu
NM_001322011.1:c.1505G>T	NP_001308940.1:p.Arg502Leu
NM_001322012.1:c.1505G>T	NP_001308941.1:p.Arg502Leu
NM_001322013.1:c.1865G>T	NP_001308942.1:p.Arg622Leu
NM_001322014.1:c.2471G>T	NP_001308943.1:p.Arg824Leu
NM_001322015.1:c.2129G>T	NP_001308944.1:p.Arg710Leu
NR_136154.1:n.2482G>T
XM_006715744.4:c.1505G>T	XP_006715807.1:p.Arg502Leu
XM_017012342.2:c.1505G>T	XP_016867831.1:p.Arg502Leu
XM_024446800.1:c.1877G>T	XP_024302568.1:p.Arg626Leu
NM_000535.7:c.2438G>T MANE Select	NP_000526.2:p.Arg813Leu
NM_001322003.2:c.2033G>T	NP_001308932.1:p.Arg678Leu
NM_001322004.2:c.2033G>T	NP_001308933.1:p.Arg678Leu
NM_001322005.2:c.2033G>T	NP_001308934.1:p.Arg678Leu
NM_001322006.2:c.2282G>T	NP_001308935.1:p.Arg761Leu
NM_001322008.2:c.2120G>T	NP_001308937.1:p.Arg707Leu
NM_001322009.2:c.2066G>T	NP_001308938.1:p.Arg689Leu
NM_001322010.2:c.1877G>T	NP_001308939.1:p.Arg626Leu
NM_001322011.2:c.1505G>T	NP_001308940.1:p.Arg502Leu
NM_001322012.2:c.1505G>T	NP_001308941.1:p.Arg502Leu
NM_001322013.2:c.1865G>T	NP_001308942.1:p.Arg622Leu
NM_001322014.2:c.2471G>T	NP_001308943.1:p.Arg824Leu
NM_001322015.2:c.2129G>T	NP_001308944.1:p.Arg710Leu
NM_001322007.2:c.2120G>T	NP_001308936.1:p.Arg707Leu