Canonical Allele Identifier: CA366742314

Gene: PMS2

Linked Data

• dbSNP Id: rs2128733132
• gnomAD v4: 7-5987432-T-C
• MyVariant Identifiers: chr7:g.6027063T>C (hg19) ; chr7:g.5987432T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987432T>C , CM000669.2:g.5987432T>C	GRCh38
NC_000007.13:g.6027063T>C , CM000669.1:g.6027063T>C	GRCh37
NC_000007.12:g.5993589T>C	NCBI36
NG_008466.1:g.26675A>G , LRG_161:g.26675A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*729A>G	ENSP00000514615.2:n.*729A>G
ENST00000699840.2:c.1330A>G	ENSP00000514638.2:p.Ser444Gly
ENST00000699930.2:c.1225A>G	ENSP00000514695.2:p.Ser409Gly
ENST00000406569.8:c.1333A>G	ENSP00000514464.1:p.Ser445Gly
ENST00000644110.2:c.*927A>G	ENSP00000496392.2:n.*927A>G
ENST00000699752.1:c.1177A>G	ENSP00000514561.1:p.Ser393Gly
ENST00000699753.1:c.*754A>G	ENSP00000514562.1:n.*754A>G
ENST00000699754.1:c.1135A>G	ENSP00000514563.1:p.Ser379Gly
ENST00000699755.1:c.*732A>G	ENSP00000514564.1:n.*732A>G
ENST00000699756.1:c.*920A>G	ENSP00000514565.1:n.*920A>G
ENST00000699757.1:c.*590A>G	ENSP00000514566.1:n.*590A>G
ENST00000699758.1:c.*590A>G	ENSP00000514567.1:n.*590A>G
ENST00000699759.1:n.2187A>G
ENST00000699760.1:c.1015A>G	ENSP00000514568.1:p.Ser339Gly
ENST00000699761.1:c.928A>G	ENSP00000514569.1:p.Ser310Gly
ENST00000699762.1:c.760A>G	ENSP00000514570.1:p.Ser254Gly
ENST00000699763.1:c.*423A>G	ENSP00000514571.1:n.*423A>G
ENST00000699764.1:c.1333A>G	ENSP00000514572.1:p.Ser445Gly
ENST00000699765.1:c.*429A>G	ENSP00000514573.1:n.*429A>G
ENST00000699766.1:c.1333A>G	ENSP00000514574.1:p.Ser445Gly
ENST00000699767.1:c.1333A>G	ENSP00000514575.1:p.Ser445Gly
ENST00000699768.1:c.1333A>G	ENSP00000514576.1:p.Ser445Gly
ENST00000699811.1:c.928A>G	ENSP00000514614.1:p.Ser310Gly
ENST00000699813.1:n.1446A>G
ENST00000699814.1:c.956A>G
ENST00000699815.1:c.*864A>G	ENSP00000514616.1:n.*864A>G
ENST00000699816.1:c.*223A>G	ENSP00000514617.1:n.*223A>G
ENST00000699817.1:c.*927A>G	ENSP00000514618.1:n.*927A>G
ENST00000699818.1:c.928A>G	ENSP00000514619.1:p.Ser310Gly
ENST00000699819.1:c.*490A>G	ENSP00000514620.1:n.*490A>G
ENST00000699820.1:c.1144+2368A>G	ENSP00000514621.1:n.1144+2368A>G
ENST00000699821.1:c.928A>G	ENSP00000514622.1:p.Ser310Gly
ENST00000699822.1:c.*785A>G	ENSP00000514623.1:n.*785A>G
ENST00000699823.1:c.928A>G	ENSP00000514624.1:p.Ser310Gly
ENST00000699824.1:c.*836A>G	ENSP00000514625.1:n.*836A>G
ENST00000699825.1:c.772A>G	ENSP00000514626.1:p.Ser258Gly
ENST00000699826.1:c.*732A>G	ENSP00000514627.1:n.*732A>G
ENST00000699827.1:c.1165A>G	ENSP00000514628.1:p.Ser389Gly
ENST00000699828.1:c.*423A>G	ENSP00000514629.1:n.*423A>G
ENST00000699833.1:n.3105A>G
ENST00000699837.1:c.928A>G	ENSP00000514635.1:p.Ser310Gly
ENST00000699838.1:c.*1233A>G	ENSP00000514636.1:n.*1233A>G
ENST00000699839.1:c.1519A>G	ENSP00000514637.1:p.Ser507Gly
ENST00000699916.1:c.*590A>G	ENSP00000514684.1:n.*590A>G
ENST00000699917.1:c.*782A>G	ENSP00000514685.1:n.*782A>G
ENST00000699918.1:c.*834A>G	ENSP00000514686.1:n.*834A>G
ENST00000699919.1:c.*920A>G	ENSP00000514687.1:n.*920A>G
ENST00000699920.1:c.*969A>G	ENSP00000514688.1:n.*969A>G
ENST00000699928.1:c.989-4441A>G	ENSP00000514693.1:n.989-4441A>G
ENST00000699929.1:c.*634A>G	ENSP00000514694.1:n.*634A>G
ENST00000699930.1:c.1225A>G	ENSP00000514695.1:p.Ser409Gly
ENST00000699931.1:n.2761A>G
ENST00000699951.1:c.*429A>G	ENSP00000514706.1:n.*429A>G
ENST00000699952.1:c.803+9894A>G	ENSP00000514707.1:n.803+9894A>G
ENST00000699953.1:c.*440A>G	ENSP00000514708.1:n.*440A>G
ENST00000699954.1:c.*634A>G	ENSP00000514709.1:n.*634A>G
ENST00000265849.12:c.1333A>G MANE Select	ENSP00000265849.7:p.Ser445Gly
ENST00000642292.1:c.928A>G	ENSP00000495524.1:p.Ser310Gly
ENST00000642456.1:c.928A>G	ENSP00000493814.1:p.Ser310Gly
ENST00000643595.1:c.*732A>G	ENSP00000494497.1:n.*732A>G
ENST00000644110.1:c.1015A>G	ENSP00000496392.1:p.Ser339Gly
ENST00000265849.11:c.1333A>G	ENSP00000265849.7:p.Ser445Gly
ENST00000382321.5:c.804-4441A>G	ENSP00000371758.4:n.804-4441A>G
ENST00000406569.7:n.1333A>G
ENST00000441476.6:c.1015A>G	ENSP00000392843.2:p.Ser339Gly
ENST00000469652.1:n.63-4527A>G
NM_000535.5:c.1333A>G , LRG_161t1:c.1333A>G	NP_000526.1:p.Ser445Gly
NR_003085.2:n.1415A>G
XM_006715742.2:c.1327A>G	XP_006715805.1:p.Ser443Gly
XM_006715744.2:c.400A>G	XP_006715807.1:p.Ser134Gly
XM_011515427.1:c.1378A>G	XP_011513729.1:p.Ser460Gly
XM_011515428.1:c.1222A>G	XP_011513730.1:p.Ser408Gly
XM_011515429.1:c.1015A>G	XP_011513731.1:p.Ser339Gly
XM_011515430.1:c.1015A>G	XP_011513732.1:p.Ser339Gly
NM_000535.6:c.1333A>G	NP_000526.2:p.Ser445Gly
NM_001322003.1:c.928A>G	NP_001308932.1:p.Ser310Gly
NM_001322004.1:c.928A>G	NP_001308933.1:p.Ser310Gly
NM_001322005.1:c.928A>G	NP_001308934.1:p.Ser310Gly
NM_001322006.1:c.1177A>G	NP_001308935.1:p.Ser393Gly
NM_001322007.1:c.1015A>G	NP_001308936.1:p.Ser339Gly
NM_001322008.1:c.1015A>G	NP_001308937.1:p.Ser339Gly
NM_001322009.1:c.928A>G	NP_001308938.1:p.Ser310Gly
NM_001322010.1:c.772A>G	NP_001308939.1:p.Ser258Gly
NM_001322011.1:c.400A>G	NP_001308940.1:p.Ser134Gly
NM_001322012.1:c.400A>G	NP_001308941.1:p.Ser134Gly
NM_001322013.1:c.760A>G	NP_001308942.1:p.Ser254Gly
NM_001322014.1:c.1333A>G	NP_001308943.1:p.Ser445Gly
NM_001322015.1:c.1024A>G	NP_001308944.1:p.Ser342Gly
NR_136154.1:n.1420A>G
XM_006715744.4:c.400A>G	XP_006715807.1:p.Ser134Gly
XM_017012342.2:c.400A>G	XP_016867831.1:p.Ser134Gly
XM_024446800.1:c.772A>G	XP_024302568.1:p.Ser258Gly
NM_000535.7:c.1333A>G MANE Select	NP_000526.2:p.Ser445Gly
NM_001322003.2:c.928A>G	NP_001308932.1:p.Ser310Gly
NM_001322004.2:c.928A>G	NP_001308933.1:p.Ser310Gly
NM_001322005.2:c.928A>G	NP_001308934.1:p.Ser310Gly
NM_001322006.2:c.1177A>G	NP_001308935.1:p.Ser393Gly
NM_001322008.2:c.1015A>G	NP_001308937.1:p.Ser339Gly
NM_001322009.2:c.928A>G	NP_001308938.1:p.Ser310Gly
NM_001322010.2:c.772A>G	NP_001308939.1:p.Ser258Gly
NM_001322011.2:c.400A>G	NP_001308940.1:p.Ser134Gly
NM_001322012.2:c.400A>G	NP_001308941.1:p.Ser134Gly
NM_001322013.2:c.760A>G	NP_001308942.1:p.Ser254Gly
NM_001322014.2:c.1333A>G	NP_001308943.1:p.Ser445Gly
NM_001322015.2:c.1024A>G	NP_001308944.1:p.Ser342Gly
NM_001322007.2:c.1015A>G	NP_001308936.1:p.Ser339Gly