Canonical Allele Identifier: CA366742536

Gene: PMS2

Linked Data

• MyVariant Identifiers: chr7:g.6027174T>A (hg19) ; chr7:g.5987543T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987543T>A , CM000669.2:g.5987543T>A	GRCh38
NC_000007.13:g.6027174T>A , CM000669.1:g.6027174T>A	GRCh37
NC_000007.12:g.5993700T>A	NCBI36
NG_008466.1:g.26564A>T , LRG_161:g.26564A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*618A>T	ENSP00000514615.2:n.*618A>T
ENST00000699840.2:c.1219A>T	ENSP00000514638.2:p.Thr407Ser
ENST00000699930.2:c.1114A>T	ENSP00000514695.2:p.Thr372Ser
ENST00000406569.8:c.1222A>T	ENSP00000514464.1:p.Thr408Ser
ENST00000644110.2:c.*816A>T	ENSP00000496392.2:n.*816A>T
ENST00000699752.1:c.1066A>T	ENSP00000514561.1:p.Thr356Ser
ENST00000699753.1:c.*643A>T	ENSP00000514562.1:n.*643A>T
ENST00000699754.1:c.1024A>T	ENSP00000514563.1:p.Thr342Ser
ENST00000699755.1:c.*621A>T	ENSP00000514564.1:n.*621A>T
ENST00000699756.1:c.*809A>T	ENSP00000514565.1:n.*809A>T
ENST00000699757.1:c.*479A>T	ENSP00000514566.1:n.*479A>T
ENST00000699758.1:c.*479A>T	ENSP00000514567.1:n.*479A>T
ENST00000699759.1:n.2076A>T
ENST00000699760.1:c.904A>T	ENSP00000514568.1:p.Thr302Ser
ENST00000699761.1:c.817A>T	ENSP00000514569.1:p.Thr273Ser
ENST00000699762.1:c.649A>T	ENSP00000514570.1:p.Thr217Ser
ENST00000699763.1:c.*312A>T	ENSP00000514571.1:n.*312A>T
ENST00000699764.1:c.1222A>T	ENSP00000514572.1:p.Thr408Ser
ENST00000699765.1:c.*318A>T	ENSP00000514573.1:n.*318A>T
ENST00000699766.1:c.1222A>T	ENSP00000514574.1:p.Thr408Ser
ENST00000699767.1:c.1222A>T	ENSP00000514575.1:p.Thr408Ser
ENST00000699768.1:c.1222A>T	ENSP00000514576.1:p.Thr408Ser
ENST00000699811.1:c.817A>T	ENSP00000514614.1:p.Thr273Ser
ENST00000699813.1:n.1335A>T
ENST00000699814.1:c.845A>T
ENST00000699815.1:c.*753A>T	ENSP00000514616.1:n.*753A>T
ENST00000699816.1:c.*112A>T	ENSP00000514617.1:n.*112A>T
ENST00000699817.1:c.*816A>T	ENSP00000514618.1:n.*816A>T
ENST00000699818.1:c.817A>T	ENSP00000514619.1:p.Thr273Ser
ENST00000699819.1:c.*379A>T	ENSP00000514620.1:n.*379A>T
ENST00000699820.1:c.1144+2257A>T	ENSP00000514621.1:n.1144+2257A>T
ENST00000699821.1:c.817A>T	ENSP00000514622.1:p.Thr273Ser
ENST00000699822.1:c.*674A>T	ENSP00000514623.1:n.*674A>T
ENST00000699823.1:c.817A>T	ENSP00000514624.1:p.Thr273Ser
ENST00000699824.1:c.*725A>T	ENSP00000514625.1:n.*725A>T
ENST00000699825.1:c.661A>T	ENSP00000514626.1:p.Thr221Ser
ENST00000699826.1:c.*621A>T	ENSP00000514627.1:n.*621A>T
ENST00000699827.1:c.1054A>T	ENSP00000514628.1:p.Thr352Ser
ENST00000699828.1:c.*312A>T	ENSP00000514629.1:n.*312A>T
ENST00000699829.1:c.*723A>T	ENSP00000514630.1:n.*723A>T
ENST00000699830.1:c.*621A>T	ENSP00000514631.1:n.*621A>T
ENST00000699833.1:n.2994A>T
ENST00000699837.1:c.817A>T	ENSP00000514635.1:p.Thr273Ser
ENST00000699838.1:c.*1122A>T	ENSP00000514636.1:n.*1122A>T
ENST00000699839.1:c.1408A>T	ENSP00000514637.1:p.Thr470Ser
ENST00000699840.1:c.1219A>T	ENSP00000514638.1:p.Thr407Ser
ENST00000699916.1:c.*479A>T	ENSP00000514684.1:n.*479A>T
ENST00000699917.1:c.*671A>T	ENSP00000514685.1:n.*671A>T
ENST00000699918.1:c.*723A>T	ENSP00000514686.1:n.*723A>T
ENST00000699919.1:c.*809A>T	ENSP00000514687.1:n.*809A>T
ENST00000699920.1:c.*858A>T	ENSP00000514688.1:n.*858A>T
ENST00000699928.1:c.988+4430A>T	ENSP00000514693.1:n.988+4430A>T
ENST00000699929.1:c.*523A>T	ENSP00000514694.1:n.*523A>T
ENST00000699930.1:c.1114A>T	ENSP00000514695.1:p.Thr372Ser
ENST00000699931.1:n.2650A>T
ENST00000699932.1:c.*440A>T	ENSP00000514696.1:n.*440A>T
ENST00000699951.1:c.*318A>T	ENSP00000514706.1:n.*318A>T
ENST00000699952.1:c.803+9783A>T	ENSP00000514707.1:n.803+9783A>T
ENST00000699953.1:c.*329A>T	ENSP00000514708.1:n.*329A>T
ENST00000699954.1:c.*523A>T	ENSP00000514709.1:n.*523A>T
ENST00000265849.12:c.1222A>T MANE Select	ENSP00000265849.7:p.Thr408Ser
ENST00000642292.1:c.817A>T	ENSP00000495524.1:p.Thr273Ser
ENST00000642456.1:c.817A>T	ENSP00000493814.1:p.Thr273Ser
ENST00000643595.1:c.*621A>T	ENSP00000494497.1:n.*621A>T
ENST00000644110.1:c.904A>T	ENSP00000496392.1:p.Thr302Ser
ENST00000265849.11:c.1222A>T	ENSP00000265849.7:p.Thr408Ser
ENST00000382321.5:c.804-4552A>T	ENSP00000371758.4:n.804-4552A>T
ENST00000406569.7:n.1222A>T
ENST00000441476.6:c.904A>T	ENSP00000392843.2:p.Thr302Ser
ENST00000469652.1:n.63-4638A>T
NM_000535.5:c.1222A>T , LRG_161t1:c.1222A>T	NP_000526.1:p.Thr408Ser
NR_003085.2:n.1304A>T
XM_006715742.2:c.1216A>T	XP_006715805.1:p.Thr406Ser
XM_006715744.2:c.289A>T	XP_006715807.1:p.Thr97Ser
XM_011515427.1:c.1267A>T	XP_011513729.1:p.Thr423Ser
XM_011515428.1:c.1111A>T	XP_011513730.1:p.Thr371Ser
XM_011515429.1:c.904A>T	XP_011513731.1:p.Thr302Ser
XM_011515430.1:c.904A>T	XP_011513732.1:p.Thr302Ser
NM_000535.6:c.1222A>T	NP_000526.2:p.Thr408Ser
NM_001322003.1:c.817A>T	NP_001308932.1:p.Thr273Ser
NM_001322004.1:c.817A>T	NP_001308933.1:p.Thr273Ser
NM_001322005.1:c.817A>T	NP_001308934.1:p.Thr273Ser
NM_001322006.1:c.1066A>T	NP_001308935.1:p.Thr356Ser
NM_001322007.1:c.904A>T	NP_001308936.1:p.Thr302Ser
NM_001322008.1:c.904A>T	NP_001308937.1:p.Thr302Ser
NM_001322009.1:c.817A>T	NP_001308938.1:p.Thr273Ser
NM_001322010.1:c.661A>T	NP_001308939.1:p.Thr221Ser
NM_001322011.1:c.289A>T	NP_001308940.1:p.Thr97Ser
NM_001322012.1:c.289A>T	NP_001308941.1:p.Thr97Ser
NM_001322013.1:c.649A>T	NP_001308942.1:p.Thr217Ser
NM_001322014.1:c.1222A>T	NP_001308943.1:p.Thr408Ser
NM_001322015.1:c.913A>T	NP_001308944.1:p.Thr305Ser
NR_136154.1:n.1309A>T
XM_006715744.4:c.289A>T	XP_006715807.1:p.Thr97Ser
XM_017012342.2:c.289A>T	XP_016867831.1:p.Thr97Ser
XM_024446800.1:c.661A>T	XP_024302568.1:p.Thr221Ser
NM_000535.7:c.1222A>T MANE Select	NP_000526.2:p.Thr408Ser
NM_001322003.2:c.817A>T	NP_001308932.1:p.Thr273Ser
NM_001322004.2:c.817A>T	NP_001308933.1:p.Thr273Ser
NM_001322005.2:c.817A>T	NP_001308934.1:p.Thr273Ser
NM_001322006.2:c.1066A>T	NP_001308935.1:p.Thr356Ser
NM_001322008.2:c.904A>T	NP_001308937.1:p.Thr302Ser
NM_001322009.2:c.817A>T	NP_001308938.1:p.Thr273Ser
NM_001322010.2:c.661A>T	NP_001308939.1:p.Thr221Ser
NM_001322011.2:c.289A>T	NP_001308940.1:p.Thr97Ser
NM_001322012.2:c.289A>T	NP_001308941.1:p.Thr97Ser
NM_001322013.2:c.649A>T	NP_001308942.1:p.Thr217Ser
NM_001322014.2:c.1222A>T	NP_001308943.1:p.Thr408Ser
NM_001322015.2:c.913A>T	NP_001308944.1:p.Thr305Ser
NM_001322007.2:c.904A>T	NP_001308936.1:p.Thr302Ser