Canonical Allele Identifier: CA009803

Gene: PMS2

Linked Data

• ClinVar Variation Id: 41703
• ClinVar RCV Id: RCV001353895
• dbSNP Id: rs2228007
• ExAC: 7:6026865 T / C
• gnomAD v2: 7-6026865-T-C
• gnomAD v3: 7-5987234-T-C
• gnomAD v4: 7-5987234-T-C
• MyVariant Identifiers: chr7:g.6026865T>C (hg19) ; chr7:g.5987234T>C (hg38)
• PubMed: PMID:9683794 ; PMID:10479499 ; PMID:10480359 ; PMID:11793469 ; PMID:16619239 ; PMID:22703879 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987234T>C , CM000669.2:g.5987234T>C	GRCh38
NC_000007.13:g.6026865T>C , CM000669.1:g.6026865T>C	GRCh37
NC_000007.12:g.5993391T>C	NCBI36
NG_008466.1:g.26873A>G , LRG_161:g.26873A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*927A>G	ENSP00000514615.2:n.*927A>G
ENST00000699840.2:c.1528A>G	ENSP00000514638.2:p.Thr510Ala
ENST00000699930.2:c.1423A>G	ENSP00000514695.2:p.Thr475Ala
ENST00000406569.8:c.1531A>G	ENSP00000514464.1:p.Thr511Ala
ENST00000644110.2:c.*1125A>G	ENSP00000496392.2:n.*1125A>G
ENST00000699752.1:c.1375A>G	ENSP00000514561.1:p.Thr459Ala
ENST00000699753.1:c.*952A>G	ENSP00000514562.1:n.*952A>G
ENST00000699754.1:c.1333A>G	ENSP00000514563.1:p.Thr445Ala
ENST00000699755.1:c.*930A>G	ENSP00000514564.1:n.*930A>G
ENST00000699756.1:c.*1118A>G	ENSP00000514565.1:n.*1118A>G
ENST00000699757.1:c.*788A>G	ENSP00000514566.1:n.*788A>G
ENST00000699758.1:c.*788A>G	ENSP00000514567.1:n.*788A>G
ENST00000699759.1:n.2385A>G
ENST00000699760.1:c.1213A>G	ENSP00000514568.1:p.Thr405Ala
ENST00000699761.1:c.1126A>G	ENSP00000514569.1:p.Thr376Ala
ENST00000699762.1:c.958A>G	ENSP00000514570.1:p.Thr320Ala
ENST00000699763.1:c.*621A>G	ENSP00000514571.1:n.*621A>G
ENST00000699764.1:c.1531A>G	ENSP00000514572.1:p.Thr511Ala
ENST00000699765.1:c.*627A>G	ENSP00000514573.1:n.*627A>G
ENST00000699766.1:c.1531A>G	ENSP00000514574.1:p.Thr511Ala
ENST00000699767.1:c.1531A>G	ENSP00000514575.1:p.Thr511Ala
ENST00000699768.1:c.1531A>G	ENSP00000514576.1:p.Thr511Ala
ENST00000699811.1:c.1126A>G	ENSP00000514614.1:p.Thr376Ala
ENST00000699813.1:n.1644A>G
ENST00000699814.1:c.1154A>G
ENST00000699815.1:c.*1062A>G	ENSP00000514616.1:n.*1062A>G
ENST00000699816.1:c.*421A>G	ENSP00000514617.1:n.*421A>G
ENST00000699817.1:c.*1125A>G	ENSP00000514618.1:n.*1125A>G
ENST00000699818.1:c.1126A>G	ENSP00000514619.1:p.Thr376Ala
ENST00000699819.1:c.*688A>G	ENSP00000514620.1:n.*688A>G
ENST00000699820.1:c.1144+2566A>G	ENSP00000514621.1:n.1144+2566A>G
ENST00000699821.1:c.1126A>G	ENSP00000514622.1:p.Thr376Ala
ENST00000699822.1:c.*983A>G	ENSP00000514623.1:n.*983A>G
ENST00000699823.1:c.1126A>G	ENSP00000514624.1:p.Thr376Ala
ENST00000699824.1:c.*1034A>G	ENSP00000514625.1:n.*1034A>G
ENST00000699825.1:c.970A>G	ENSP00000514626.1:p.Thr324Ala
ENST00000699826.1:c.*930A>G	ENSP00000514627.1:n.*930A>G
ENST00000699827.1:c.1363A>G	ENSP00000514628.1:p.Thr455Ala
ENST00000699828.1:c.*621A>G	ENSP00000514629.1:n.*621A>G
ENST00000699833.1:n.3303A>G
ENST00000699837.1:c.1126A>G	ENSP00000514635.1:p.Thr376Ala
ENST00000699838.1:c.*1431A>G	ENSP00000514636.1:n.*1431A>G
ENST00000699839.1:c.1717A>G	ENSP00000514637.1:p.Thr573Ala
ENST00000699916.1:c.*788A>G	ENSP00000514684.1:n.*788A>G
ENST00000699917.1:c.*980A>G	ENSP00000514685.1:n.*980A>G
ENST00000699918.1:c.*1032A>G	ENSP00000514686.1:n.*1032A>G
ENST00000699919.1:c.*1118A>G	ENSP00000514687.1:n.*1118A>G
ENST00000699920.1:c.*1167A>G	ENSP00000514688.1:n.*1167A>G
ENST00000699928.1:c.989-4243A>G	ENSP00000514693.1:n.989-4243A>G
ENST00000699929.1:c.*832A>G	ENSP00000514694.1:n.*832A>G
ENST00000699930.1:c.1423A>G	ENSP00000514695.1:p.Thr475Ala
ENST00000699931.1:n.2959A>G
ENST00000699951.1:c.*627A>G	ENSP00000514706.1:n.*627A>G
ENST00000699952.1:c.803+10092A>G	ENSP00000514707.1:n.803+10092A>G
ENST00000699953.1:c.*638A>G	ENSP00000514708.1:n.*638A>G
ENST00000699954.1:c.*832A>G	ENSP00000514709.1:n.*832A>G
ENST00000265849.12:c.1531A>G MANE Select	ENSP00000265849.7:p.Thr511Ala
ENST00000642292.1:c.1126A>G	ENSP00000495524.1:p.Thr376Ala
ENST00000642456.1:c.1126A>G	ENSP00000493814.1:p.Thr376Ala
ENST00000643595.1:c.*930A>G	ENSP00000494497.1:n.*930A>G
ENST00000644110.1:c.1213A>G	ENSP00000496392.1:p.Thr405Ala
ENST00000265849.11:c.1531A>G	ENSP00000265849.7:p.Thr511Ala
ENST00000382321.5:c.804-4243A>G	ENSP00000371758.4:n.804-4243A>G
ENST00000406569.7:n.1531A>G
ENST00000441476.6:c.1213A>G	ENSP00000392843.2:p.Thr405Ala
ENST00000469652.1:n.63-4329A>G
NM_000535.5:c.1531A>G , LRG_161t1:c.1531A>G	NP_000526.1:p.Thr511Ala
NR_003085.2:n.1613A>G
XM_006715742.2:c.1525A>G	XP_006715805.1:p.Thr509Ala
XM_006715744.2:c.598A>G	XP_006715807.1:p.Thr200Ala
XM_011515427.1:c.1576A>G	XP_011513729.1:p.Thr526Ala
XM_011515428.1:c.1420A>G	XP_011513730.1:p.Thr474Ala
XM_011515429.1:c.1213A>G	XP_011513731.1:p.Thr405Ala
XM_011515430.1:c.1213A>G	XP_011513732.1:p.Thr405Ala
NM_000535.6:c.1531A>G	NP_000526.2:p.Thr511Ala
NM_001322003.1:c.1126A>G	NP_001308932.1:p.Thr376Ala
NM_001322004.1:c.1126A>G	NP_001308933.1:p.Thr376Ala
NM_001322005.1:c.1126A>G	NP_001308934.1:p.Thr376Ala
NM_001322006.1:c.1375A>G	NP_001308935.1:p.Thr459Ala
NM_001322007.1:c.1213A>G	NP_001308936.1:p.Thr405Ala
NM_001322008.1:c.1213A>G	NP_001308937.1:p.Thr405Ala
NM_001322009.1:c.1126A>G	NP_001308938.1:p.Thr376Ala
NM_001322010.1:c.970A>G	NP_001308939.1:p.Thr324Ala
NM_001322011.1:c.598A>G	NP_001308940.1:p.Thr200Ala
NM_001322012.1:c.598A>G	NP_001308941.1:p.Thr200Ala
NM_001322013.1:c.958A>G	NP_001308942.1:p.Thr320Ala
NM_001322014.1:c.1531A>G	NP_001308943.1:p.Thr511Ala
NM_001322015.1:c.1222A>G	NP_001308944.1:p.Thr408Ala
NR_136154.1:n.1618A>G
XM_006715744.4:c.598A>G	XP_006715807.1:p.Thr200Ala
XM_017012342.2:c.598A>G	XP_016867831.1:p.Thr200Ala
XM_024446800.1:c.970A>G	XP_024302568.1:p.Thr324Ala
NM_000535.7:c.1531A>G MANE Select	NP_000526.2:p.Thr511Ala
NM_001322003.2:c.1126A>G	NP_001308932.1:p.Thr376Ala
NM_001322004.2:c.1126A>G	NP_001308933.1:p.Thr376Ala
NM_001322005.2:c.1126A>G	NP_001308934.1:p.Thr376Ala
NM_001322006.2:c.1375A>G	NP_001308935.1:p.Thr459Ala
NM_001322008.2:c.1213A>G	NP_001308937.1:p.Thr405Ala
NM_001322009.2:c.1126A>G	NP_001308938.1:p.Thr376Ala
NM_001322010.2:c.970A>G	NP_001308939.1:p.Thr324Ala
NM_001322011.2:c.598A>G	NP_001308940.1:p.Thr200Ala
NM_001322012.2:c.598A>G	NP_001308941.1:p.Thr200Ala
NM_001322013.2:c.958A>G	NP_001308942.1:p.Thr320Ala
NM_001322014.2:c.1531A>G	NP_001308943.1:p.Thr511Ala
NM_001322015.2:c.1222A>G	NP_001308944.1:p.Thr408Ala
NM_001322007.2:c.1213A>G	NP_001308936.1:p.Thr405Ala