Canonical Allele Identifier: CA366742002

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1491884
• ClinVar RCV Id: RCV001988971
• dbSNP Id: rs748643694
• MyVariant Identifiers: chr7:g.6026963C>A (hg19) ; chr7:g.5987332C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987332C>A , CM000669.2:g.5987332C>A	GRCh38
NC_000007.13:g.6026963C>A , CM000669.1:g.6026963C>A	GRCh37
NC_000007.12:g.5993489C>A	NCBI36
NG_008466.1:g.26775G>T , LRG_161:g.26775G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*829G>T	ENSP00000514615.2:n.*829G>T
ENST00000699840.2:c.1430G>T	ENSP00000514638.2:p.Ser477Ile
ENST00000699930.2:c.1325G>T	ENSP00000514695.2:p.Ser442Ile
ENST00000406569.8:c.1433G>T	ENSP00000514464.1:p.Ser478Ile
ENST00000644110.2:c.*1027G>T	ENSP00000496392.2:n.*1027G>T
ENST00000699752.1:c.1277G>T	ENSP00000514561.1:p.Ser426Ile
ENST00000699753.1:c.*854G>T	ENSP00000514562.1:n.*854G>T
ENST00000699754.1:c.1235G>T	ENSP00000514563.1:p.Ser412Ile
ENST00000699755.1:c.*832G>T	ENSP00000514564.1:n.*832G>T
ENST00000699756.1:c.*1020G>T	ENSP00000514565.1:n.*1020G>T
ENST00000699757.1:c.*690G>T	ENSP00000514566.1:n.*690G>T
ENST00000699758.1:c.*690G>T	ENSP00000514567.1:n.*690G>T
ENST00000699759.1:n.2287G>T
ENST00000699760.1:c.1115G>T	ENSP00000514568.1:p.Ser372Ile
ENST00000699761.1:c.1028G>T	ENSP00000514569.1:p.Ser343Ile
ENST00000699762.1:c.860G>T	ENSP00000514570.1:p.Ser287Ile
ENST00000699763.1:c.*523G>T	ENSP00000514571.1:n.*523G>T
ENST00000699764.1:c.1433G>T	ENSP00000514572.1:p.Ser478Ile
ENST00000699765.1:c.*529G>T	ENSP00000514573.1:n.*529G>T
ENST00000699766.1:c.1433G>T	ENSP00000514574.1:p.Ser478Ile
ENST00000699767.1:c.1433G>T	ENSP00000514575.1:p.Ser478Ile
ENST00000699768.1:c.1433G>T	ENSP00000514576.1:p.Ser478Ile
ENST00000699811.1:c.1028G>T	ENSP00000514614.1:p.Ser343Ile
ENST00000699813.1:n.1546G>T
ENST00000699814.1:c.1056G>T
ENST00000699815.1:c.*964G>T	ENSP00000514616.1:n.*964G>T
ENST00000699816.1:c.*323G>T	ENSP00000514617.1:n.*323G>T
ENST00000699817.1:c.*1027G>T	ENSP00000514618.1:n.*1027G>T
ENST00000699818.1:c.1028G>T	ENSP00000514619.1:p.Ser343Ile
ENST00000699819.1:c.*590G>T	ENSP00000514620.1:n.*590G>T
ENST00000699820.1:c.1144+2468G>T	ENSP00000514621.1:n.1144+2468G>T
ENST00000699821.1:c.1028G>T	ENSP00000514622.1:p.Ser343Ile
ENST00000699822.1:c.*885G>T	ENSP00000514623.1:n.*885G>T
ENST00000699823.1:c.1028G>T	ENSP00000514624.1:p.Ser343Ile
ENST00000699824.1:c.*936G>T	ENSP00000514625.1:n.*936G>T
ENST00000699825.1:c.872G>T	ENSP00000514626.1:p.Ser291Ile
ENST00000699826.1:c.*832G>T	ENSP00000514627.1:n.*832G>T
ENST00000699827.1:c.1265G>T	ENSP00000514628.1:p.Ser422Ile
ENST00000699828.1:c.*523G>T	ENSP00000514629.1:n.*523G>T
ENST00000699833.1:n.3205G>T
ENST00000699837.1:c.1028G>T	ENSP00000514635.1:p.Ser343Ile
ENST00000699838.1:c.*1333G>T	ENSP00000514636.1:n.*1333G>T
ENST00000699839.1:c.1619G>T	ENSP00000514637.1:p.Ser540Ile
ENST00000699916.1:c.*690G>T	ENSP00000514684.1:n.*690G>T
ENST00000699917.1:c.*882G>T	ENSP00000514685.1:n.*882G>T
ENST00000699918.1:c.*934G>T	ENSP00000514686.1:n.*934G>T
ENST00000699919.1:c.*1020G>T	ENSP00000514687.1:n.*1020G>T
ENST00000699920.1:c.*1069G>T	ENSP00000514688.1:n.*1069G>T
ENST00000699928.1:c.989-4341G>T	ENSP00000514693.1:n.989-4341G>T
ENST00000699929.1:c.*734G>T	ENSP00000514694.1:n.*734G>T
ENST00000699930.1:c.1325G>T	ENSP00000514695.1:p.Ser442Ile
ENST00000699931.1:n.2861G>T
ENST00000699951.1:c.*529G>T	ENSP00000514706.1:n.*529G>T
ENST00000699952.1:c.803+9994G>T	ENSP00000514707.1:n.803+9994G>T
ENST00000699953.1:c.*540G>T	ENSP00000514708.1:n.*540G>T
ENST00000699954.1:c.*734G>T	ENSP00000514709.1:n.*734G>T
ENST00000265849.12:c.1433G>T MANE Select	ENSP00000265849.7:p.Ser478Ile
ENST00000642292.1:c.1028G>T	ENSP00000495524.1:p.Ser343Ile
ENST00000642456.1:c.1028G>T	ENSP00000493814.1:p.Ser343Ile
ENST00000643595.1:c.*832G>T	ENSP00000494497.1:n.*832G>T
ENST00000644110.1:c.1115G>T	ENSP00000496392.1:p.Ser372Ile
ENST00000265849.11:c.1433G>T	ENSP00000265849.7:p.Ser478Ile
ENST00000382321.5:c.804-4341G>T	ENSP00000371758.4:n.804-4341G>T
ENST00000406569.7:n.1433G>T
ENST00000441476.6:c.1115G>T	ENSP00000392843.2:p.Ser372Ile
ENST00000469652.1:n.63-4427G>T
NM_000535.5:c.1433G>T , LRG_161t1:c.1433G>T	NP_000526.1:p.Ser478Ile
NR_003085.2:n.1515G>T
XM_006715742.2:c.1427G>T	XP_006715805.1:p.Ser476Ile
XM_006715744.2:c.500G>T	XP_006715807.1:p.Ser167Ile
XM_011515427.1:c.1478G>T	XP_011513729.1:p.Ser493Ile
XM_011515428.1:c.1322G>T	XP_011513730.1:p.Ser441Ile
XM_011515429.1:c.1115G>T	XP_011513731.1:p.Ser372Ile
XM_011515430.1:c.1115G>T	XP_011513732.1:p.Ser372Ile
NM_000535.6:c.1433G>T	NP_000526.2:p.Ser478Ile
NM_001322003.1:c.1028G>T	NP_001308932.1:p.Ser343Ile
NM_001322004.1:c.1028G>T	NP_001308933.1:p.Ser343Ile
NM_001322005.1:c.1028G>T	NP_001308934.1:p.Ser343Ile
NM_001322006.1:c.1277G>T	NP_001308935.1:p.Ser426Ile
NM_001322007.1:c.1115G>T	NP_001308936.1:p.Ser372Ile
NM_001322008.1:c.1115G>T	NP_001308937.1:p.Ser372Ile
NM_001322009.1:c.1028G>T	NP_001308938.1:p.Ser343Ile
NM_001322010.1:c.872G>T	NP_001308939.1:p.Ser291Ile
NM_001322011.1:c.500G>T	NP_001308940.1:p.Ser167Ile
NM_001322012.1:c.500G>T	NP_001308941.1:p.Ser167Ile
NM_001322013.1:c.860G>T	NP_001308942.1:p.Ser287Ile
NM_001322014.1:c.1433G>T	NP_001308943.1:p.Ser478Ile
NM_001322015.1:c.1124G>T	NP_001308944.1:p.Ser375Ile
NR_136154.1:n.1520G>T
XM_006715744.4:c.500G>T	XP_006715807.1:p.Ser167Ile
XM_017012342.2:c.500G>T	XP_016867831.1:p.Ser167Ile
XM_024446800.1:c.872G>T	XP_024302568.1:p.Ser291Ile
NM_000535.7:c.1433G>T MANE Select	NP_000526.2:p.Ser478Ile
NM_001322003.2:c.1028G>T	NP_001308932.1:p.Ser343Ile
NM_001322004.2:c.1028G>T	NP_001308933.1:p.Ser343Ile
NM_001322005.2:c.1028G>T	NP_001308934.1:p.Ser343Ile
NM_001322006.2:c.1277G>T	NP_001308935.1:p.Ser426Ile
NM_001322008.2:c.1115G>T	NP_001308937.1:p.Ser372Ile
NM_001322009.2:c.1028G>T	NP_001308938.1:p.Ser343Ile
NM_001322010.2:c.872G>T	NP_001308939.1:p.Ser291Ile
NM_001322011.2:c.500G>T	NP_001308940.1:p.Ser167Ile
NM_001322012.2:c.500G>T	NP_001308941.1:p.Ser167Ile
NM_001322013.2:c.860G>T	NP_001308942.1:p.Ser287Ile
NM_001322014.2:c.1433G>T	NP_001308943.1:p.Ser478Ile
NM_001322015.2:c.1124G>T	NP_001308944.1:p.Ser375Ile
NM_001322007.2:c.1115G>T	NP_001308936.1:p.Ser372Ile