Canonical Allele Identifier: CA366742274

Gene: PMS2

Linked Data

• dbSNP Id: rs776194799
• gnomAD v4: 7-5987412-C-A
• MyVariant Identifiers: chr7:g.6027043C>A (hg19) ; chr7:g.5987412C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987412C>A , CM000669.2:g.5987412C>A	GRCh38
NC_000007.13:g.6027043C>A , CM000669.1:g.6027043C>A	GRCh37
NC_000007.12:g.5993569C>A	NCBI36
NG_008466.1:g.26695G>T , LRG_161:g.26695G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*749G>T	ENSP00000514615.2:n.*749G>T
ENST00000699840.2:c.1350G>T	ENSP00000514638.2:p.Arg450Ser
ENST00000699930.2:c.1245G>T	ENSP00000514695.2:p.Arg415Ser
ENST00000406569.8:c.1353G>T	ENSP00000514464.1:p.Arg451Ser
ENST00000644110.2:c.*947G>T	ENSP00000496392.2:n.*947G>T
ENST00000699752.1:c.1197G>T	ENSP00000514561.1:p.Arg399Ser
ENST00000699753.1:c.*774G>T	ENSP00000514562.1:n.*774G>T
ENST00000699754.1:c.1155G>T	ENSP00000514563.1:p.Arg385Ser
ENST00000699755.1:c.*752G>T	ENSP00000514564.1:n.*752G>T
ENST00000699756.1:c.*940G>T	ENSP00000514565.1:n.*940G>T
ENST00000699757.1:c.*610G>T	ENSP00000514566.1:n.*610G>T
ENST00000699758.1:c.*610G>T	ENSP00000514567.1:n.*610G>T
ENST00000699759.1:n.2207G>T
ENST00000699760.1:c.1035G>T	ENSP00000514568.1:p.Arg345Ser
ENST00000699761.1:c.948G>T	ENSP00000514569.1:p.Arg316Ser
ENST00000699762.1:c.780G>T	ENSP00000514570.1:p.Arg260Ser
ENST00000699763.1:c.*443G>T	ENSP00000514571.1:n.*443G>T
ENST00000699764.1:c.1353G>T	ENSP00000514572.1:p.Arg451Ser
ENST00000699765.1:c.*449G>T	ENSP00000514573.1:n.*449G>T
ENST00000699766.1:c.1353G>T	ENSP00000514574.1:p.Arg451Ser
ENST00000699767.1:c.1353G>T	ENSP00000514575.1:p.Arg451Ser
ENST00000699768.1:c.1353G>T	ENSP00000514576.1:p.Arg451Ser
ENST00000699811.1:c.948G>T	ENSP00000514614.1:p.Arg316Ser
ENST00000699813.1:n.1466G>T
ENST00000699814.1:c.976G>T
ENST00000699815.1:c.*884G>T	ENSP00000514616.1:n.*884G>T
ENST00000699816.1:c.*243G>T	ENSP00000514617.1:n.*243G>T
ENST00000699817.1:c.*947G>T	ENSP00000514618.1:n.*947G>T
ENST00000699818.1:c.948G>T	ENSP00000514619.1:p.Arg316Ser
ENST00000699819.1:c.*510G>T	ENSP00000514620.1:n.*510G>T
ENST00000699820.1:c.1144+2388G>T	ENSP00000514621.1:n.1144+2388G>T
ENST00000699821.1:c.948G>T	ENSP00000514622.1:p.Arg316Ser
ENST00000699822.1:c.*805G>T	ENSP00000514623.1:n.*805G>T
ENST00000699823.1:c.948G>T	ENSP00000514624.1:p.Arg316Ser
ENST00000699824.1:c.*856G>T	ENSP00000514625.1:n.*856G>T
ENST00000699825.1:c.792G>T	ENSP00000514626.1:p.Arg264Ser
ENST00000699826.1:c.*752G>T	ENSP00000514627.1:n.*752G>T
ENST00000699827.1:c.1185G>T	ENSP00000514628.1:p.Arg395Ser
ENST00000699828.1:c.*443G>T	ENSP00000514629.1:n.*443G>T
ENST00000699833.1:n.3125G>T
ENST00000699837.1:c.948G>T	ENSP00000514635.1:p.Arg316Ser
ENST00000699838.1:c.*1253G>T	ENSP00000514636.1:n.*1253G>T
ENST00000699839.1:c.1539G>T	ENSP00000514637.1:p.Arg513Ser
ENST00000699916.1:c.*610G>T	ENSP00000514684.1:n.*610G>T
ENST00000699917.1:c.*802G>T	ENSP00000514685.1:n.*802G>T
ENST00000699918.1:c.*854G>T	ENSP00000514686.1:n.*854G>T
ENST00000699919.1:c.*940G>T	ENSP00000514687.1:n.*940G>T
ENST00000699920.1:c.*989G>T	ENSP00000514688.1:n.*989G>T
ENST00000699928.1:c.989-4421G>T	ENSP00000514693.1:n.989-4421G>T
ENST00000699929.1:c.*654G>T	ENSP00000514694.1:n.*654G>T
ENST00000699930.1:c.1245G>T	ENSP00000514695.1:p.Arg415Ser
ENST00000699931.1:n.2781G>T
ENST00000699951.1:c.*449G>T	ENSP00000514706.1:n.*449G>T
ENST00000699952.1:c.803+9914G>T	ENSP00000514707.1:n.803+9914G>T
ENST00000699953.1:c.*460G>T	ENSP00000514708.1:n.*460G>T
ENST00000699954.1:c.*654G>T	ENSP00000514709.1:n.*654G>T
ENST00000265849.12:c.1353G>T MANE Select	ENSP00000265849.7:p.Arg451Ser
ENST00000642292.1:c.948G>T	ENSP00000495524.1:p.Arg316Ser
ENST00000642456.1:c.948G>T	ENSP00000493814.1:p.Arg316Ser
ENST00000643595.1:c.*752G>T	ENSP00000494497.1:n.*752G>T
ENST00000644110.1:c.1035G>T	ENSP00000496392.1:p.Arg345Ser
ENST00000265849.11:c.1353G>T	ENSP00000265849.7:p.Arg451Ser
ENST00000382321.5:c.804-4421G>T	ENSP00000371758.4:n.804-4421G>T
ENST00000406569.7:n.1353G>T
ENST00000441476.6:c.1035G>T	ENSP00000392843.2:p.Arg345Ser
ENST00000469652.1:n.63-4507G>T
NM_000535.5:c.1353G>T , LRG_161t1:c.1353G>T	NP_000526.1:p.Arg451Ser
NR_003085.2:n.1435G>T
XM_006715742.2:c.1347G>T	XP_006715805.1:p.Arg449Ser
XM_006715744.2:c.420G>T	XP_006715807.1:p.Arg140Ser
XM_011515427.1:c.1398G>T	XP_011513729.1:p.Arg466Ser
XM_011515428.1:c.1242G>T	XP_011513730.1:p.Arg414Ser
XM_011515429.1:c.1035G>T	XP_011513731.1:p.Arg345Ser
XM_011515430.1:c.1035G>T	XP_011513732.1:p.Arg345Ser
NM_000535.6:c.1353G>T	NP_000526.2:p.Arg451Ser
NM_001322003.1:c.948G>T	NP_001308932.1:p.Arg316Ser
NM_001322004.1:c.948G>T	NP_001308933.1:p.Arg316Ser
NM_001322005.1:c.948G>T	NP_001308934.1:p.Arg316Ser
NM_001322006.1:c.1197G>T	NP_001308935.1:p.Arg399Ser
NM_001322007.1:c.1035G>T	NP_001308936.1:p.Arg345Ser
NM_001322008.1:c.1035G>T	NP_001308937.1:p.Arg345Ser
NM_001322009.1:c.948G>T	NP_001308938.1:p.Arg316Ser
NM_001322010.1:c.792G>T	NP_001308939.1:p.Arg264Ser
NM_001322011.1:c.420G>T	NP_001308940.1:p.Arg140Ser
NM_001322012.1:c.420G>T	NP_001308941.1:p.Arg140Ser
NM_001322013.1:c.780G>T	NP_001308942.1:p.Arg260Ser
NM_001322014.1:c.1353G>T	NP_001308943.1:p.Arg451Ser
NM_001322015.1:c.1044G>T	NP_001308944.1:p.Arg348Ser
NR_136154.1:n.1440G>T
XM_006715744.4:c.420G>T	XP_006715807.1:p.Arg140Ser
XM_017012342.2:c.420G>T	XP_016867831.1:p.Arg140Ser
XM_024446800.1:c.792G>T	XP_024302568.1:p.Arg264Ser
NM_000535.7:c.1353G>T MANE Select	NP_000526.2:p.Arg451Ser
NM_001322003.2:c.948G>T	NP_001308932.1:p.Arg316Ser
NM_001322004.2:c.948G>T	NP_001308933.1:p.Arg316Ser
NM_001322005.2:c.948G>T	NP_001308934.1:p.Arg316Ser
NM_001322006.2:c.1197G>T	NP_001308935.1:p.Arg399Ser
NM_001322008.2:c.1035G>T	NP_001308937.1:p.Arg345Ser
NM_001322009.2:c.948G>T	NP_001308938.1:p.Arg316Ser
NM_001322010.2:c.792G>T	NP_001308939.1:p.Arg264Ser
NM_001322011.2:c.420G>T	NP_001308940.1:p.Arg140Ser
NM_001322012.2:c.420G>T	NP_001308941.1:p.Arg140Ser
NM_001322013.2:c.780G>T	NP_001308942.1:p.Arg260Ser
NM_001322014.2:c.1353G>T	NP_001308943.1:p.Arg451Ser
NM_001322015.2:c.1044G>T	NP_001308944.1:p.Arg348Ser
NM_001322007.2:c.1035G>T	NP_001308936.1:p.Arg345Ser