Canonical Allele Identifier: CA366742289

Gene: PMS2

Linked Data

• dbSNP Id: rs2128732821
• gnomAD v4: 7-5987419-T-C
• COSMIC: COSM747348
• MyVariant Identifiers: chr7:g.6027050T>C (hg19) ; chr7:g.5987419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987419T>C , CM000669.2:g.5987419T>C	GRCh38
NC_000007.13:g.6027050T>C , CM000669.1:g.6027050T>C	GRCh37
NC_000007.12:g.5993576T>C	NCBI36
NG_008466.1:g.26688A>G , LRG_161:g.26688A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*742A>G	ENSP00000514615.2:n.*742A>G
ENST00000699840.2:c.1343A>G	ENSP00000514638.2:p.Gln448Arg
ENST00000699930.2:c.1238A>G	ENSP00000514695.2:p.Gln413Arg
ENST00000406569.8:c.1346A>G	ENSP00000514464.1:p.Gln449Arg
ENST00000644110.2:c.*940A>G	ENSP00000496392.2:n.*940A>G
ENST00000699752.1:c.1190A>G	ENSP00000514561.1:p.Gln397Arg
ENST00000699753.1:c.*767A>G	ENSP00000514562.1:n.*767A>G
ENST00000699754.1:c.1148A>G	ENSP00000514563.1:p.Gln383Arg
ENST00000699755.1:c.*745A>G	ENSP00000514564.1:n.*745A>G
ENST00000699756.1:c.*933A>G	ENSP00000514565.1:n.*933A>G
ENST00000699757.1:c.*603A>G	ENSP00000514566.1:n.*603A>G
ENST00000699758.1:c.*603A>G	ENSP00000514567.1:n.*603A>G
ENST00000699759.1:n.2200A>G
ENST00000699760.1:c.1028A>G	ENSP00000514568.1:p.Gln343Arg
ENST00000699761.1:c.941A>G	ENSP00000514569.1:p.Gln314Arg
ENST00000699762.1:c.773A>G	ENSP00000514570.1:p.Gln258Arg
ENST00000699763.1:c.*436A>G	ENSP00000514571.1:n.*436A>G
ENST00000699764.1:c.1346A>G	ENSP00000514572.1:p.Gln449Arg
ENST00000699765.1:c.*442A>G	ENSP00000514573.1:n.*442A>G
ENST00000699766.1:c.1346A>G	ENSP00000514574.1:p.Gln449Arg
ENST00000699767.1:c.1346A>G	ENSP00000514575.1:p.Gln449Arg
ENST00000699768.1:c.1346A>G	ENSP00000514576.1:p.Gln449Arg
ENST00000699811.1:c.941A>G	ENSP00000514614.1:p.Gln314Arg
ENST00000699813.1:n.1459A>G
ENST00000699814.1:c.969A>G
ENST00000699815.1:c.*877A>G	ENSP00000514616.1:n.*877A>G
ENST00000699816.1:c.*236A>G	ENSP00000514617.1:n.*236A>G
ENST00000699817.1:c.*940A>G	ENSP00000514618.1:n.*940A>G
ENST00000699818.1:c.941A>G	ENSP00000514619.1:p.Gln314Arg
ENST00000699819.1:c.*503A>G	ENSP00000514620.1:n.*503A>G
ENST00000699820.1:c.1144+2381A>G	ENSP00000514621.1:n.1144+2381A>G
ENST00000699821.1:c.941A>G	ENSP00000514622.1:p.Gln314Arg
ENST00000699822.1:c.*798A>G	ENSP00000514623.1:n.*798A>G
ENST00000699823.1:c.941A>G	ENSP00000514624.1:p.Gln314Arg
ENST00000699824.1:c.*849A>G	ENSP00000514625.1:n.*849A>G
ENST00000699825.1:c.785A>G	ENSP00000514626.1:p.Gln262Arg
ENST00000699826.1:c.*745A>G	ENSP00000514627.1:n.*745A>G
ENST00000699827.1:c.1178A>G	ENSP00000514628.1:p.Gln393Arg
ENST00000699828.1:c.*436A>G	ENSP00000514629.1:n.*436A>G
ENST00000699833.1:n.3118A>G
ENST00000699837.1:c.941A>G	ENSP00000514635.1:p.Gln314Arg
ENST00000699838.1:c.*1246A>G	ENSP00000514636.1:n.*1246A>G
ENST00000699839.1:c.1532A>G	ENSP00000514637.1:p.Gln511Arg
ENST00000699916.1:c.*603A>G	ENSP00000514684.1:n.*603A>G
ENST00000699917.1:c.*795A>G	ENSP00000514685.1:n.*795A>G
ENST00000699918.1:c.*847A>G	ENSP00000514686.1:n.*847A>G
ENST00000699919.1:c.*933A>G	ENSP00000514687.1:n.*933A>G
ENST00000699920.1:c.*982A>G	ENSP00000514688.1:n.*982A>G
ENST00000699928.1:c.989-4428A>G	ENSP00000514693.1:n.989-4428A>G
ENST00000699929.1:c.*647A>G	ENSP00000514694.1:n.*647A>G
ENST00000699930.1:c.1238A>G	ENSP00000514695.1:p.Gln413Arg
ENST00000699931.1:n.2774A>G
ENST00000699951.1:c.*442A>G	ENSP00000514706.1:n.*442A>G
ENST00000699952.1:c.803+9907A>G	ENSP00000514707.1:n.803+9907A>G
ENST00000699953.1:c.*453A>G	ENSP00000514708.1:n.*453A>G
ENST00000699954.1:c.*647A>G	ENSP00000514709.1:n.*647A>G
ENST00000265849.12:c.1346A>G MANE Select	ENSP00000265849.7:p.Gln449Arg
ENST00000642292.1:c.941A>G	ENSP00000495524.1:p.Gln314Arg
ENST00000642456.1:c.941A>G	ENSP00000493814.1:p.Gln314Arg
ENST00000643595.1:c.*745A>G	ENSP00000494497.1:n.*745A>G
ENST00000644110.1:c.1028A>G	ENSP00000496392.1:p.Gln343Arg
ENST00000265849.11:c.1346A>G	ENSP00000265849.7:p.Gln449Arg
ENST00000382321.5:c.804-4428A>G	ENSP00000371758.4:n.804-4428A>G
ENST00000406569.7:n.1346A>G
ENST00000441476.6:c.1028A>G	ENSP00000392843.2:p.Gln343Arg
ENST00000469652.1:n.63-4514A>G
NM_000535.5:c.1346A>G , LRG_161t1:c.1346A>G	NP_000526.1:p.Gln449Arg
NR_003085.2:n.1428A>G
XM_006715742.2:c.1340A>G	XP_006715805.1:p.Gln447Arg
XM_006715744.2:c.413A>G	XP_006715807.1:p.Gln138Arg
XM_011515427.1:c.1391A>G	XP_011513729.1:p.Gln464Arg
XM_011515428.1:c.1235A>G	XP_011513730.1:p.Gln412Arg
XM_011515429.1:c.1028A>G	XP_011513731.1:p.Gln343Arg
XM_011515430.1:c.1028A>G	XP_011513732.1:p.Gln343Arg
NM_000535.6:c.1346A>G	NP_000526.2:p.Gln449Arg
NM_001322003.1:c.941A>G	NP_001308932.1:p.Gln314Arg
NM_001322004.1:c.941A>G	NP_001308933.1:p.Gln314Arg
NM_001322005.1:c.941A>G	NP_001308934.1:p.Gln314Arg
NM_001322006.1:c.1190A>G	NP_001308935.1:p.Gln397Arg
NM_001322007.1:c.1028A>G	NP_001308936.1:p.Gln343Arg
NM_001322008.1:c.1028A>G	NP_001308937.1:p.Gln343Arg
NM_001322009.1:c.941A>G	NP_001308938.1:p.Gln314Arg
NM_001322010.1:c.785A>G	NP_001308939.1:p.Gln262Arg
NM_001322011.1:c.413A>G	NP_001308940.1:p.Gln138Arg
NM_001322012.1:c.413A>G	NP_001308941.1:p.Gln138Arg
NM_001322013.1:c.773A>G	NP_001308942.1:p.Gln258Arg
NM_001322014.1:c.1346A>G	NP_001308943.1:p.Gln449Arg
NM_001322015.1:c.1037A>G	NP_001308944.1:p.Gln346Arg
NR_136154.1:n.1433A>G
XM_006715744.4:c.413A>G	XP_006715807.1:p.Gln138Arg
XM_017012342.2:c.413A>G	XP_016867831.1:p.Gln138Arg
XM_024446800.1:c.785A>G	XP_024302568.1:p.Gln262Arg
NM_000535.7:c.1346A>G MANE Select	NP_000526.2:p.Gln449Arg
NM_001322003.2:c.941A>G	NP_001308932.1:p.Gln314Arg
NM_001322004.2:c.941A>G	NP_001308933.1:p.Gln314Arg
NM_001322005.2:c.941A>G	NP_001308934.1:p.Gln314Arg
NM_001322006.2:c.1190A>G	NP_001308935.1:p.Gln397Arg
NM_001322008.2:c.1028A>G	NP_001308937.1:p.Gln343Arg
NM_001322009.2:c.941A>G	NP_001308938.1:p.Gln314Arg
NM_001322010.2:c.785A>G	NP_001308939.1:p.Gln262Arg
NM_001322011.2:c.413A>G	NP_001308940.1:p.Gln138Arg
NM_001322012.2:c.413A>G	NP_001308941.1:p.Gln138Arg
NM_001322013.2:c.773A>G	NP_001308942.1:p.Gln258Arg
NM_001322014.2:c.1346A>G	NP_001308943.1:p.Gln449Arg
NM_001322015.2:c.1037A>G	NP_001308944.1:p.Gln346Arg
NM_001322007.2:c.1028A>G	NP_001308936.1:p.Gln343Arg