Canonical Allele Identifier: CA011387

Gene: PMS2

Linked Data

• ClinVar Variation Id: 127781
• ClinVar RCV Id: RCV000115685 ; RCV000212872 ; RCV000465421 ; RCV001798335 ; RCV003460826 ; RCV003330440
• dbSNP Id: rs368737800
• ExAC: 7:6017278 C / T
• gnomAD v2: 7-6017278-C-T
• gnomAD v3: 7-5977647-C-T
• gnomAD v4: 7-5977647-C-T
• MyVariant Identifiers: chr7:g.6017278C>T (hg19) ; chr7:g.5977647C>T (hg38)
• PubMed: PMID:25980754 ; PMID:26976419

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977647C>T , CM000669.2:g.5977647C>T	GRCh38
NC_000007.13:g.6017278C>T , CM000669.1:g.6017278C>T	GRCh37
NC_000007.12:g.5983804C>T	NCBI36
NG_008466.1:g.36460G>A , LRG_161:g.36460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1782G>A	ENSP00000514615.2:n.*1782G>A
ENST00000699840.2:c.2383G>A	ENSP00000514638.2:p.Val795Ile
ENST00000699930.2:c.2278G>A	ENSP00000514695.2:p.Val760Ile
ENST00000406569.8:c.1746G>A	ENSP00000514464.1:n.1746G>A
ENST00000644110.2:c.*1980G>A	ENSP00000496392.2:n.*1980G>A
ENST00000699752.1:c.2230G>A	ENSP00000514561.1:p.Val744Ile
ENST00000699753.1:c.*1807G>A	ENSP00000514562.1:n.*1807G>A
ENST00000699754.1:c.2188G>A	ENSP00000514563.1:p.Val730Ile
ENST00000699755.1:c.*1785G>A	ENSP00000514564.1:n.*1785G>A
ENST00000699756.1:c.*1973G>A	ENSP00000514565.1:n.*1973G>A
ENST00000699757.1:c.*1643G>A	ENSP00000514566.1:n.*1643G>A
ENST00000699758.1:c.*1643G>A	ENSP00000514567.1:n.*1643G>A
ENST00000699759.1:n.3240G>A
ENST00000699760.1:c.2068G>A	ENSP00000514568.1:p.Val690Ile
ENST00000699761.1:c.1981G>A	ENSP00000514569.1:p.Val661Ile
ENST00000699762.1:c.1813G>A	ENSP00000514570.1:p.Val605Ile
ENST00000699763.1:c.*1476G>A	ENSP00000514571.1:n.*1476G>A
ENST00000699764.1:c.*704G>A	ENSP00000514572.1:n.*704G>A
ENST00000699765.1:c.*1381G>A	ENSP00000514573.1:n.*1381G>A
ENST00000699766.1:c.2419G>A	ENSP00000514574.1:p.Val807Ile
ENST00000699767.1:c.*27G>A	ENSP00000514575.1:n.*27G>A
ENST00000699768.1:c.2242G>A	ENSP00000514576.1:p.Val748Ile
ENST00000699811.1:c.1981G>A	ENSP00000514614.1:p.Val661Ile
ENST00000699813.1:n.2499G>A
ENST00000699814.1:c.2009G>A
ENST00000699815.1:c.*1917G>A	ENSP00000514616.1:n.*1917G>A
ENST00000699816.1:c.*1276G>A	ENSP00000514617.1:n.*1276G>A
ENST00000699817.1:c.*1980G>A	ENSP00000514618.1:n.*1980G>A
ENST00000699818.1:c.1981G>A	ENSP00000514619.1:p.Val661Ile
ENST00000699819.1:c.*1543G>A	ENSP00000514620.1:n.*1543G>A
ENST00000699820.1:c.*324G>A	ENSP00000514621.1:n.*324G>A
ENST00000699821.1:c.2014G>A	ENSP00000514622.1:p.Val672Ile
ENST00000699822.1:c.*1838G>A	ENSP00000514623.1:n.*1838G>A
ENST00000699823.1:c.1981G>A	ENSP00000514624.1:p.Val661Ile
ENST00000699824.1:c.*1889G>A	ENSP00000514625.1:n.*1889G>A
ENST00000699825.1:c.1825G>A	ENSP00000514626.1:p.Val609Ile
ENST00000699826.1:c.*1785G>A	ENSP00000514627.1:n.*1785G>A
ENST00000699827.1:c.2218G>A	ENSP00000514628.1:p.Val740Ile
ENST00000699828.1:c.*1476G>A	ENSP00000514629.1:n.*1476G>A
ENST00000699833.1:n.4158G>A
ENST00000699837.1:c.1981G>A	ENSP00000514635.1:p.Val661Ile
ENST00000699838.1:c.*2286G>A	ENSP00000514636.1:n.*2286G>A
ENST00000699839.1:c.2572G>A	ENSP00000514637.1:p.Val858Ile
ENST00000699916.1:c.*1643G>A	ENSP00000514684.1:n.*1643G>A
ENST00000699917.1:c.*1835G>A	ENSP00000514685.1:n.*1835G>A
ENST00000699918.1:c.*1887G>A	ENSP00000514686.1:n.*1887G>A
ENST00000699919.1:c.*1973G>A	ENSP00000514687.1:n.*1973G>A
ENST00000699920.1:c.*2022G>A	ENSP00000514688.1:n.*2022G>A
ENST00000699928.1:c.*324G>A	ENSP00000514693.1:n.*324G>A
ENST00000699951.1:c.*1439G>A	ENSP00000514706.1:n.*1439G>A
ENST00000699952.1:c.804-4105G>A	ENSP00000514707.1:n.804-4105G>A
ENST00000265849.12:c.2386G>A MANE Select	ENSP00000265849.7:p.Val796Ile
ENST00000642292.1:c.1981G>A	ENSP00000495524.1:p.Val661Ile
ENST00000642456.1:c.1981G>A	ENSP00000493814.1:p.Val661Ile
ENST00000643595.1:c.*1785G>A	ENSP00000494497.1:n.*1785G>A
ENST00000644110.1:c.2068G>A	ENSP00000496392.1:p.Val690Ile
ENST00000265849.11:c.2386G>A	ENSP00000265849.7:p.Val796Ile
ENST00000382321.5:c.1183G>A	ENSP00000371758.4:p.Val395Ile
ENST00000441476.6:c.2068G>A	ENSP00000392843.2:p.Val690Ile
NM_000535.5:c.2386G>A , LRG_161t1:c.2386G>A	NP_000526.1:p.Val796Ile
NR_003085.2:n.2468G>A
XM_006715742.2:c.2380G>A	XP_006715805.1:p.Val794Ile
XM_006715744.2:c.1453G>A	XP_006715807.1:p.Val485Ile
XM_011515427.1:c.2431G>A	XP_011513729.1:p.Val811Ile
XM_011515428.1:c.2275G>A	XP_011513730.1:p.Val759Ile
XM_011515429.1:c.2068G>A	XP_011513731.1:p.Val690Ile
XM_011515430.1:c.2068G>A	XP_011513732.1:p.Val690Ile
NM_000535.6:c.2386G>A	NP_000526.2:p.Val796Ile
NM_001322003.1:c.1981G>A	NP_001308932.1:p.Val661Ile
NM_001322004.1:c.1981G>A	NP_001308933.1:p.Val661Ile
NM_001322005.1:c.1981G>A	NP_001308934.1:p.Val661Ile
NM_001322006.1:c.2230G>A	NP_001308935.1:p.Val744Ile
NM_001322007.1:c.2068G>A	NP_001308936.1:p.Val690Ile
NM_001322008.1:c.2068G>A	NP_001308937.1:p.Val690Ile
NM_001322009.1:c.2014G>A	NP_001308938.1:p.Val672Ile
NM_001322010.1:c.1825G>A	NP_001308939.1:p.Val609Ile
NM_001322011.1:c.1453G>A	NP_001308940.1:p.Val485Ile
NM_001322012.1:c.1453G>A	NP_001308941.1:p.Val485Ile
NM_001322013.1:c.1813G>A	NP_001308942.1:p.Val605Ile
NM_001322014.1:c.2419G>A	NP_001308943.1:p.Val807Ile
NM_001322015.1:c.2077G>A	NP_001308944.1:p.Val693Ile
NR_136154.1:n.2430G>A
XM_006715744.4:c.1453G>A	XP_006715807.1:p.Val485Ile
XM_017012342.2:c.1453G>A	XP_016867831.1:p.Val485Ile
XM_024446800.1:c.1825G>A	XP_024302568.1:p.Val609Ile
NM_000535.7:c.2386G>A MANE Select	NP_000526.2:p.Val796Ile
NM_001322003.2:c.1981G>A	NP_001308932.1:p.Val661Ile
NM_001322004.2:c.1981G>A	NP_001308933.1:p.Val661Ile
NM_001322005.2:c.1981G>A	NP_001308934.1:p.Val661Ile
NM_001322006.2:c.2230G>A	NP_001308935.1:p.Val744Ile
NM_001322008.2:c.2068G>A	NP_001308937.1:p.Val690Ile
NM_001322009.2:c.2014G>A	NP_001308938.1:p.Val672Ile
NM_001322010.2:c.1825G>A	NP_001308939.1:p.Val609Ile
NM_001322011.2:c.1453G>A	NP_001308940.1:p.Val485Ile
NM_001322012.2:c.1453G>A	NP_001308941.1:p.Val485Ile
NM_001322013.2:c.1813G>A	NP_001308942.1:p.Val605Ile
NM_001322014.2:c.2419G>A	NP_001308943.1:p.Val807Ile
NM_001322015.2:c.2077G>A	NP_001308944.1:p.Val693Ile
NM_001322007.2:c.2068G>A	NP_001308936.1:p.Val690Ile