Canonical Allele Identifier: CA009597

Gene: PMS2

Linked Data

• ClinVar Variation Id: 9245
• ClinVar RCV Id: RCV001267878 ; RCV001353458 ; RCV001797999 ; RCV001804723 ; RCV002476951 ; RCV003335023 ; RCV003390667
• dbSNP Id: rs121434629
• ExAC: 7:6045549 C / A
• gnomAD v2: 7-6045549-C-A
• gnomAD v3: 7-6005918-C-A
• gnomAD v4: 7-6005918-C-A
• MyVariant Identifiers: chr7:g.6045549C>A (hg19) ; chr7:g.6005918C>A (hg38)
• PubMed: PMID:7628019 ; PMID:15256438 ; PMID:16144131 ; PMID:16619239 ; PMID:17557300 ; PMID:18273873 ; PMID:18602922 ; PMID:19156169 ; PMID:20186688 ; PMID:20205264 ; PMID:20531397 ; PMID:21204794 ; PMID:21239990 ; PMID:21376568 ; PMID:22577899 ; PMID:22949387 ; PMID:23709753 ; PMID:23891399 ; PMID:24027009 ; PMID:24055113 ; PMID:24897087 ; PMID:25194673 ; PMID:25345868 ; PMID:25871621 ; PMID:25980754 ; PMID:26116798 ; PMID:26318770 ; PMID:26845104 ; PMID:27433846 ; PMID:27863258 ; PMID:28528518 ; PMID:28596308

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6005918C>A , CM000669.2:g.6005918C>A	GRCh38
NC_000007.13:g.6045549C>A , CM000669.1:g.6045549C>A	GRCh37
NC_000007.12:g.6012075C>A	NCBI36
NG_008466.1:g.8189G>T , LRG_161:g.8189G>T
NG_050738.1:g.1668C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.137G>T	ENSP00000514615.2:p.Ser46Ile
ENST00000699840.2:c.137G>T	ENSP00000514638.2:p.Ser46Ile
ENST00000699930.2:c.137G>T	ENSP00000514695.2:p.Ser46Ile
ENST00000406569.8:c.137G>T	ENSP00000514464.1:p.Ser46Ile
ENST00000415839.3:n.202G>T
ENST00000644110.2:c.137G>T	ENSP00000496392.2:p.Ser46Ile
ENST00000699752.1:c.137G>T	ENSP00000514561.1:p.Ser46Ile
ENST00000699753.1:c.-269G>T	ENSP00000514562.1:n.-269G>T
ENST00000699754.1:c.137G>T	ENSP00000514563.1:p.Ser46Ile
ENST00000699755.1:c.-269G>T	ENSP00000514564.1:n.-269G>T
ENST00000699756.1:c.137G>T	ENSP00000514565.1:p.Ser46Ile
ENST00000699757.1:c.-79G>T	ENSP00000514566.1:n.-79G>T
ENST00000699758.1:c.137G>T	ENSP00000514567.1:p.Ser46Ile
ENST00000699759.1:n.209G>T
ENST00000699760.1:c.-52-1860G>T	ENSP00000514568.1:n.-52-1860G>T
ENST00000699761.1:c.-216G>T	ENSP00000514569.1:n.-216G>T
ENST00000699762.1:c.-269G>T	ENSP00000514570.1:n.-269G>T
ENST00000699763.1:c.-269G>T	ENSP00000514571.1:n.-269G>T
ENST00000699764.1:c.137G>T	ENSP00000514572.1:p.Ser46Ile
ENST00000699765.1:c.-79G>T	ENSP00000514573.1:n.-79G>T
ENST00000699766.1:c.137G>T	ENSP00000514574.1:p.Ser46Ile
ENST00000699767.1:c.137G>T	ENSP00000514575.1:p.Ser46Ile
ENST00000699768.1:c.137G>T	ENSP00000514576.1:p.Ser46Ile
ENST00000699769.1:n.217G>T
ENST00000699770.1:n.193G>T
ENST00000699811.1:c.-444G>T	ENSP00000514614.1:n.-444G>T
ENST00000699814.1:c.61G>T
ENST00000699815.1:c.-269G>T	ENSP00000514616.1:n.-269G>T
ENST00000699816.1:c.-269G>T	ENSP00000514617.1:n.-269G>T
ENST00000699817.1:c.137G>T	ENSP00000514618.1:p.Ser46Ile
ENST00000699818.1:c.-269G>T	ENSP00000514619.1:n.-269G>T
ENST00000699819.1:c.-282G>T	ENSP00000514620.1:n.-282G>T
ENST00000699820.1:c.137G>T	ENSP00000514621.1:p.Ser46Ile
ENST00000699821.1:c.-269G>T	ENSP00000514622.1:n.-269G>T
ENST00000699822.1:c.-269G>T	ENSP00000514623.1:n.-269G>T
ENST00000699823.1:c.-189-1860G>T	ENSP00000514624.1:n.-189-1860G>T
ENST00000699824.1:c.137G>T	ENSP00000514625.1:p.Ser46Ile
ENST00000699825.1:c.-269G>T	ENSP00000514626.1:n.-269G>T
ENST00000699826.1:c.-242-1860G>T	ENSP00000514627.1:n.-242-1860G>T
ENST00000699827.1:c.137G>T	ENSP00000514628.1:p.Ser46Ile
ENST00000699828.1:c.137G>T	ENSP00000514629.1:p.Ser46Ile
ENST00000699829.1:c.-216G>T	ENSP00000514630.1:n.-216G>T
ENST00000699830.1:c.137G>T	ENSP00000514631.1:p.Ser46Ile
ENST00000699831.1:n.98G>T
ENST00000699833.1:n.217G>T
ENST00000699834.1:n.343G>T
ENST00000699837.1:c.-166G>T	ENSP00000514635.1:n.-166G>T
ENST00000699838.1:c.*37G>T	ENSP00000514636.1:n.*37G>T
ENST00000699839.1:c.323G>T	ENSP00000514637.1:p.Ser108Ile
ENST00000699840.1:c.137G>T	ENSP00000514638.1:p.Ser46Ile
ENST00000699916.1:c.-269G>T	ENSP00000514684.1:n.-269G>T
ENST00000699917.1:c.137G>T	ENSP00000514685.1:p.Ser46Ile
ENST00000699918.1:c.137G>T	ENSP00000514686.1:p.Ser46Ile
ENST00000699919.1:c.137G>T	ENSP00000514687.1:p.Ser46Ile
ENST00000699920.1:c.137G>T	ENSP00000514688.1:p.Ser46Ile
ENST00000699928.1:c.137G>T	ENSP00000514693.1:p.Ser46Ile
ENST00000699929.1:c.137G>T	ENSP00000514694.1:p.Ser46Ile
ENST00000699930.1:c.137G>T	ENSP00000514695.1:p.Ser46Ile
ENST00000699931.1:n.248G>T
ENST00000699932.1:c.137G>T	ENSP00000514696.1:p.Ser46Ile
ENST00000699933.1:n.217G>T
ENST00000699951.1:c.137G>T	ENSP00000514706.1:p.Ser46Ile
ENST00000699952.1:c.137G>T	ENSP00000514707.1:p.Ser46Ile
ENST00000699953.1:c.137G>T	ENSP00000514708.1:p.Ser46Ile
ENST00000699954.1:c.137G>T	ENSP00000514709.1:p.Ser46Ile
ENST00000703409.1:n.336G>T
ENST00000265849.12:c.137G>T MANE Select	ENSP00000265849.7:p.Ser46Ile
ENST00000642292.1:c.-242-1860G>T	ENSP00000495524.1:n.-242-1860G>T
ENST00000642456.1:c.-269G>T	ENSP00000493814.1:n.-269G>T
ENST00000643595.1:c.137G>T	ENSP00000494497.1:p.Ser46Ile
ENST00000265849.11:c.137G>T	ENSP00000265849.7:p.Ser46Ile
ENST00000380416.5:n.216G>T
ENST00000382321.5:c.137G>T	ENSP00000371758.4:p.Ser46Ile
ENST00000406569.7:n.137G>T
ENST00000415839.2:n.149G>T
ENST00000441476.6:c.-79G>T	ENSP00000392843.2:n.-79G>T
ENST00000469652.1:n.62+75G>T
NM_000535.5:c.137G>T , LRG_161t1:c.137G>T	NP_000526.1:p.Ser46Ile
NR_003085.2:n.219G>T
XM_006715742.2:c.131G>T	XP_006715805.1:p.Ser44Ile
XM_011515427.1:c.182G>T	XP_011513729.1:p.Ser61Ile
XM_011515428.1:c.182G>T	XP_011513730.1:p.Ser61Ile
XM_011515429.1:c.-79G>T	XP_011513731.1:n.-79G>T
XM_011515430.1:c.-79G>T	XP_011513732.1:n.-79G>T
NM_000535.6:c.137G>T	NP_000526.2:p.Ser46Ile
NM_001322003.1:c.-269G>T	NP_001308932.1:n.-269G>T
NM_001322004.1:c.-242-1860G>T	NP_001308933.1:n.-242-1860G>T
NM_001322005.1:c.-269G>T	NP_001308934.1:n.-269G>T
NM_001322006.1:c.137G>T	NP_001308935.1:p.Ser46Ile
NM_001322007.1:c.-79G>T	NP_001308936.1:n.-79G>T
NM_001322008.1:c.-52-1860G>T	NP_001308937.1:n.-52-1860G>T
NM_001322009.1:c.-269G>T	NP_001308938.1:n.-269G>T
NM_001322010.1:c.-242-1860G>T	NP_001308939.1:n.-242-1860G>T
NM_001322011.1:c.-748G>T	NP_001308940.1:n.-748G>T
NM_001322012.1:c.-748G>T	NP_001308941.1:n.-748G>T
NM_001322013.1:c.-269G>T	NP_001308942.1:n.-269G>T
NM_001322014.1:c.137G>T	NP_001308943.1:p.Ser46Ile
NM_001322015.1:c.-348G>T	NP_001308944.1:n.-348G>T
NR_136154.1:n.224G>T
XM_017012342.2:c.-648G>T	XP_016867831.1:n.-648G>T
XM_024446800.1:c.-269G>T	XP_024302568.1:n.-269G>T
NM_000535.7:c.137G>T MANE Select	NP_000526.2:p.Ser46Ile
NM_001322003.2:c.-269G>T	NP_001308932.1:n.-269G>T
NM_001322004.2:c.-242-1860G>T	NP_001308933.1:n.-242-1860G>T
NM_001322005.2:c.-269G>T	NP_001308934.1:n.-269G>T
NM_001322006.2:c.137G>T	NP_001308935.1:p.Ser46Ile
NM_001322008.2:c.-52-1860G>T	NP_001308937.1:n.-52-1860G>T
NM_001322009.2:c.-269G>T	NP_001308938.1:n.-269G>T
NM_001322010.2:c.-242-1860G>T	NP_001308939.1:n.-242-1860G>T
NM_001322011.2:c.-748G>T	NP_001308940.1:n.-748G>T
NM_001322012.2:c.-748G>T	NP_001308941.1:n.-748G>T
NM_001322013.2:c.-269G>T	NP_001308942.1:n.-269G>T
NM_001322014.2:c.137G>T	NP_001308943.1:p.Ser46Ile
NM_001322015.2:c.-348G>T	NP_001308944.1:n.-348G>T
NM_001322007.2:c.-79G>T	NP_001308936.1:n.-79G>T