Canonical Allele Identifier: CA366743058

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5991975G>T , CM000669.2:g.5991975G>T	GRCh38
NC_000007.13:g.6031606G>T , CM000669.1:g.6031606G>T	GRCh37
NC_000007.12:g.5998132G>T	NCBI36
NG_008466.1:g.22132C>A , LRG_161:g.22132C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000535.7:c.986C>A MANE Select	NP_000526.2:p.Ser329Ter
ENST00000265849.12:c.986C>A MANE Select	ENSP00000265849.7:p.Ser329Ter
NM_000535.5:c.986C>A , LRG_161t1:c.986C>A	NP_000526.1:p.Ser329Ter
NM_000535.6:c.986C>A	NP_000526.2:p.Ser329Ter
NM_001322003.1:c.581C>A	NP_001308932.1:p.Ser194Ter
NM_001322003.2:c.581C>A	NP_001308932.1:p.Ser194Ter
NM_001322004.1:c.581C>A	NP_001308933.1:p.Ser194Ter
NM_001322004.2:c.581C>A	NP_001308933.1:p.Ser194Ter
NM_001322005.1:c.581C>A	NP_001308934.1:p.Ser194Ter
NM_001322005.2:c.581C>A	NP_001308934.1:p.Ser194Ter
NM_001322006.1:c.986C>A	NP_001308935.1:p.Ser329Ter
NM_001322006.2:c.986C>A	NP_001308935.1:p.Ser329Ter
NM_001322007.1:c.668C>A	NP_001308936.1:p.Ser223Ter
NM_001322007.2:c.668C>A	NP_001308936.1:p.Ser223Ter
NM_001322008.1:c.668C>A	NP_001308937.1:p.Ser223Ter
NM_001322008.2:c.668C>A	NP_001308937.1:p.Ser223Ter
NM_001322009.1:c.581C>A	NP_001308938.1:p.Ser194Ter
NM_001322009.2:c.581C>A	NP_001308938.1:p.Ser194Ter
NM_001322010.1:c.581C>A	NP_001308939.1:p.Ser194Ter
NM_001322010.2:c.581C>A	NP_001308939.1:p.Ser194Ter
NM_001322011.1:c.53C>A	NP_001308940.1:p.Ser18Ter
NM_001322011.2:c.53C>A	NP_001308940.1:p.Ser18Ter
NM_001322012.1:c.53C>A	NP_001308941.1:p.Ser18Ter
NM_001322012.2:c.53C>A	NP_001308941.1:p.Ser18Ter
NM_001322013.1:c.413C>A	NP_001308942.1:p.Ser138Ter
NM_001322013.2:c.413C>A	NP_001308942.1:p.Ser138Ter
NM_001322014.1:c.986C>A	NP_001308943.1:p.Ser329Ter
NM_001322014.2:c.986C>A	NP_001308943.1:p.Ser329Ter
NM_001322015.1:c.677C>A	NP_001308944.1:p.Ser226Ter
NM_001322015.2:c.677C>A	NP_001308944.1:p.Ser226Ter
NR_003085.2:n.1068C>A
NR_136154.1:n.1073C>A
ENST00000265849.11:c.986C>A	ENSP00000265849.7:p.Ser329Ter
ENST00000382321.5:c.803+5351C>A	ENSP00000371758.4:n.803+5351C>A
ENST00000406569.7:n.986C>A
ENST00000406569.8:c.986C>A	ENSP00000514464.1:p.Ser329Ter
ENST00000441476.6:c.668C>A	ENSP00000392843.2:p.Ser223Ter
ENST00000469652.1:n.63-9070C>A
ENST00000642292.1:c.581C>A	ENSP00000495524.1:p.Ser194Ter
ENST00000642456.1:c.581C>A	ENSP00000493814.1:p.Ser194Ter
ENST00000643595.1:c.*385C>A	ENSP00000494497.1:n.*385C>A
ENST00000644110.1:c.668C>A	ENSP00000496392.1:p.Ser223Ter
ENST00000644110.2:c.*580C>A	ENSP00000496392.2:n.*580C>A
ENST00000699752.1:c.986C>A	ENSP00000514561.1:p.Ser329Ter
ENST00000699753.1:c.*285C>A	ENSP00000514562.1:n.*285C>A
ENST00000699754.1:c.788C>A	ENSP00000514563.1:p.Ser263Ter
ENST00000699755.1:c.*385C>A	ENSP00000514564.1:n.*385C>A
ENST00000699756.1:c.*573C>A	ENSP00000514565.1:n.*573C>A
ENST00000699757.1:c.*243C>A	ENSP00000514566.1:n.*243C>A
ENST00000699758.1:c.*243C>A	ENSP00000514567.1:n.*243C>A
ENST00000699759.1:n.1840C>A
ENST00000699760.1:c.668C>A	ENSP00000514568.1:p.Ser223Ter
ENST00000699761.1:c.581C>A	ENSP00000514569.1:p.Ser194Ter
ENST00000699762.1:c.413C>A	ENSP00000514570.1:p.Ser138Ter
ENST00000699763.1:c.581C>A	ENSP00000514571.1:p.Ser194Ter
ENST00000699764.1:c.986C>A	ENSP00000514572.1:p.Ser329Ter
ENST00000699765.1:c.*82C>A	ENSP00000514573.1:n.*82C>A
ENST00000699766.1:c.986C>A	ENSP00000514574.1:p.Ser329Ter
ENST00000699767.1:c.986C>A	ENSP00000514575.1:p.Ser329Ter
ENST00000699768.1:c.986C>A	ENSP00000514576.1:p.Ser329Ter
ENST00000699811.1:c.581C>A	ENSP00000514614.1:p.Ser194Ter
ENST00000699813.1:n.1099C>A
ENST00000699814.1:c.609C>A
ENST00000699814.2:c.*382C>A	ENSP00000514615.2:n.*382C>A
ENST00000699815.1:c.*478C>A	ENSP00000514616.1:n.*478C>A
ENST00000699816.1:c.581C>A	ENSP00000514617.1:p.Ser194Ter
ENST00000699817.1:c.*580C>A	ENSP00000514618.1:n.*580C>A
ENST00000699818.1:c.581C>A	ENSP00000514619.1:p.Ser194Ter
ENST00000699819.1:c.*143C>A	ENSP00000514620.1:n.*143C>A
ENST00000699820.1:c.986C>A	ENSP00000514621.1:p.Ser329Ter
ENST00000699821.1:c.581C>A	ENSP00000514622.1:p.Ser194Ter
ENST00000699822.1:c.*438C>A	ENSP00000514623.1:n.*438C>A
ENST00000699823.1:c.581C>A	ENSP00000514624.1:p.Ser194Ter
ENST00000699824.1:c.*489C>A	ENSP00000514625.1:n.*489C>A
ENST00000699825.1:c.581C>A	ENSP00000514626.1:p.Ser194Ter
ENST00000699826.1:c.*385C>A	ENSP00000514627.1:n.*385C>A
ENST00000699827.1:c.818C>A	ENSP00000514628.1:p.Ser273Ter
ENST00000699828.1:c.986C>A	ENSP00000514629.1:p.Ser329Ter
ENST00000699829.1:c.*487C>A	ENSP00000514630.1:n.*487C>A
ENST00000699830.1:c.*385C>A	ENSP00000514631.1:n.*385C>A
ENST00000699833.1:n.2758C>A
ENST00000699837.1:c.581C>A	ENSP00000514635.1:p.Ser194Ter
ENST00000699838.1:c.*886C>A	ENSP00000514636.1:n.*886C>A
ENST00000699839.1:c.1172C>A	ENSP00000514637.1:p.Ser391Ter
ENST00000699840.1:c.983C>A	ENSP00000514638.1:p.Ser328Ter
ENST00000699840.2:c.983C>A	ENSP00000514638.2:p.Ser328Ter
ENST00000699916.1:c.*243C>A	ENSP00000514684.1:n.*243C>A
ENST00000699917.1:c.*435C>A	ENSP00000514685.1:n.*435C>A
ENST00000699918.1:c.*487C>A	ENSP00000514686.1:n.*487C>A
ENST00000699919.1:c.*573C>A	ENSP00000514687.1:n.*573C>A
ENST00000699920.1:c.*622C>A	ENSP00000514688.1:n.*622C>A
ENST00000699928.1:c.986C>A	ENSP00000514693.1:p.Ser329Ter
ENST00000699929.1:c.*287C>A	ENSP00000514694.1:n.*287C>A
ENST00000699930.1:c.878C>A	ENSP00000514695.1:p.Ser293Ter
ENST00000699930.2:c.878C>A	ENSP00000514695.2:p.Ser293Ter
ENST00000699931.1:n.2414C>A
ENST00000699932.1:c.*82C>A	ENSP00000514696.1:n.*82C>A
ENST00000699933.1:n.966C>A
ENST00000699951.1:c.*82C>A	ENSP00000514706.1:n.*82C>A
ENST00000699952.1:c.803+5351C>A	ENSP00000514707.1:n.803+5351C>A
ENST00000699953.1:c.*93C>A	ENSP00000514708.1:n.*93C>A
ENST00000699954.1:c.*287C>A	ENSP00000514709.1:n.*287C>A
XM_006715742.2:c.980C>A	XP_006715805.1:p.Ser327Ter
XM_006715744.2:c.53C>A	XP_006715807.1:p.Ser18Ter
XM_006715744.4:c.53C>A	XP_006715807.1:p.Ser18Ter
XM_011515427.1:c.1031C>A	XP_011513729.1:p.Ser344Ter
XM_011515428.1:c.1031C>A	XP_011513730.1:p.Ser344Ter
XM_011515429.1:c.668C>A	XP_011513731.1:p.Ser223Ter
XM_011515430.1:c.668C>A	XP_011513732.1:p.Ser223Ter
XM_017012342.2:c.53C>A	XP_016867831.1:p.Ser18Ter
XM_024446800.1:c.581C>A	XP_024302568.1:p.Ser194Ter