Canonical Allele Identifier: CA366742939

Gene: PMS2

Linked Data

• ClinVar Variation Id: 525740
• ClinVar RCV Id: RCV000629989 ; RCV001805233 ; RCV001591406 ; RCV003451496
• dbSNP Id: rs1554298786
• gnomAD v4: 7-5989908-G-A
• MyVariant Identifiers: chr7:g.6029539G>A (hg19) ; chr7:g.5989908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989908G>A , CM000669.2:g.5989908G>A	GRCh38
NC_000007.13:g.6029539G>A , CM000669.1:g.6029539G>A	GRCh37
NC_000007.12:g.5996065G>A	NCBI36
NG_008466.1:g.24199C>T , LRG_161:g.24199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*432C>T	ENSP00000514615.2:n.*432C>T
ENST00000699840.2:c.1033C>T	ENSP00000514638.2:p.Gln345Ter
ENST00000699930.2:c.928C>T	ENSP00000514695.2:p.Gln310Ter
ENST00000406569.8:c.1036C>T	ENSP00000514464.1:p.Gln346Ter
ENST00000644110.2:c.*630C>T	ENSP00000496392.2:n.*630C>T
ENST00000699752.1:c.988+2065C>T	ENSP00000514561.1:n.988+2065C>T
ENST00000699753.1:c.*457C>T	ENSP00000514562.1:n.*457C>T
ENST00000699754.1:c.838C>T	ENSP00000514563.1:p.Gln280Ter
ENST00000699755.1:c.*435C>T	ENSP00000514564.1:n.*435C>T
ENST00000699756.1:c.*623C>T	ENSP00000514565.1:n.*623C>T
ENST00000699757.1:c.*293C>T	ENSP00000514566.1:n.*293C>T
ENST00000699758.1:c.*293C>T	ENSP00000514567.1:n.*293C>T
ENST00000699759.1:n.1890C>T
ENST00000699760.1:c.718C>T	ENSP00000514568.1:p.Gln240Ter
ENST00000699761.1:c.631C>T	ENSP00000514569.1:p.Gln211Ter
ENST00000699762.1:c.463C>T	ENSP00000514570.1:p.Gln155Ter
ENST00000699763.1:c.*126C>T	ENSP00000514571.1:n.*126C>T
ENST00000699764.1:c.1036C>T	ENSP00000514572.1:p.Gln346Ter
ENST00000699765.1:c.*132C>T	ENSP00000514573.1:n.*132C>T
ENST00000699766.1:c.1036C>T	ENSP00000514574.1:p.Gln346Ter
ENST00000699767.1:c.1036C>T	ENSP00000514575.1:p.Gln346Ter
ENST00000699768.1:c.1036C>T	ENSP00000514576.1:p.Gln346Ter
ENST00000699811.1:c.631C>T	ENSP00000514614.1:p.Gln211Ter
ENST00000699813.1:n.1149C>T
ENST00000699814.1:c.659C>T
ENST00000699815.1:c.*528C>T	ENSP00000514616.1:n.*528C>T
ENST00000699816.1:c.631C>T	ENSP00000514617.1:p.Gln211Ter
ENST00000699817.1:c.*630C>T	ENSP00000514618.1:n.*630C>T
ENST00000699818.1:c.631C>T	ENSP00000514619.1:p.Gln211Ter
ENST00000699819.1:c.*193C>T	ENSP00000514620.1:n.*193C>T
ENST00000699820.1:c.1036C>T	ENSP00000514621.1:p.Gln346Ter
ENST00000699821.1:c.631C>T	ENSP00000514622.1:p.Gln211Ter
ENST00000699822.1:c.*488C>T	ENSP00000514623.1:n.*488C>T
ENST00000699823.1:c.631C>T	ENSP00000514624.1:p.Gln211Ter
ENST00000699824.1:c.*539C>T	ENSP00000514625.1:n.*539C>T
ENST00000699825.1:c.583+2065C>T	ENSP00000514626.1:n.583+2065C>T
ENST00000699826.1:c.*435C>T	ENSP00000514627.1:n.*435C>T
ENST00000699827.1:c.868C>T	ENSP00000514628.1:p.Gln290Ter
ENST00000699828.1:c.*126C>T	ENSP00000514629.1:n.*126C>T
ENST00000699829.1:c.*537C>T	ENSP00000514630.1:n.*537C>T
ENST00000699830.1:c.*435C>T	ENSP00000514631.1:n.*435C>T
ENST00000699833.1:n.2808C>T
ENST00000699837.1:c.631C>T	ENSP00000514635.1:p.Gln211Ter
ENST00000699838.1:c.*936C>T	ENSP00000514636.1:n.*936C>T
ENST00000699839.1:c.1222C>T	ENSP00000514637.1:p.Gln408Ter
ENST00000699840.1:c.1033C>T	ENSP00000514638.1:p.Gln345Ter
ENST00000699916.1:c.*293C>T	ENSP00000514684.1:n.*293C>T
ENST00000699917.1:c.*485C>T	ENSP00000514685.1:n.*485C>T
ENST00000699918.1:c.*537C>T	ENSP00000514686.1:n.*537C>T
ENST00000699919.1:c.*623C>T	ENSP00000514687.1:n.*623C>T
ENST00000699920.1:c.*672C>T	ENSP00000514688.1:n.*672C>T
ENST00000699928.1:c.988+2065C>T	ENSP00000514693.1:n.988+2065C>T
ENST00000699929.1:c.*337C>T	ENSP00000514694.1:n.*337C>T
ENST00000699930.1:c.928C>T	ENSP00000514695.1:p.Gln310Ter
ENST00000699931.1:n.2464C>T
ENST00000699932.1:c.*254C>T	ENSP00000514696.1:n.*254C>T
ENST00000699933.1:n.1016C>T
ENST00000699951.1:c.*132C>T	ENSP00000514706.1:n.*132C>T
ENST00000699952.1:c.803+7418C>T	ENSP00000514707.1:n.803+7418C>T
ENST00000699953.1:c.*143C>T	ENSP00000514708.1:n.*143C>T
ENST00000699954.1:c.*337C>T	ENSP00000514709.1:n.*337C>T
ENST00000265849.12:c.1036C>T MANE Select	ENSP00000265849.7:p.Gln346Ter
ENST00000642292.1:c.631C>T	ENSP00000495524.1:p.Gln211Ter
ENST00000642456.1:c.631C>T	ENSP00000493814.1:p.Gln211Ter
ENST00000643595.1:c.*435C>T	ENSP00000494497.1:n.*435C>T
ENST00000644110.1:c.718C>T	ENSP00000496392.1:p.Gln240Ter
ENST00000265849.11:c.1036C>T	ENSP00000265849.7:p.Gln346Ter
ENST00000382321.5:c.804-6917C>T	ENSP00000371758.4:n.804-6917C>T
ENST00000406569.7:n.1036C>T
ENST00000441476.6:c.718C>T	ENSP00000392843.2:p.Gln240Ter
ENST00000469652.1:n.63-7003C>T
NM_000535.5:c.1036C>T , LRG_161t1:c.1036C>T	NP_000526.1:p.Gln346Ter
NR_003085.2:n.1118C>T
XM_006715742.2:c.1030C>T	XP_006715805.1:p.Gln344Ter
XM_006715744.2:c.103C>T	XP_006715807.1:p.Gln35Ter
XM_011515427.1:c.1081C>T	XP_011513729.1:p.Gln361Ter
XM_011515428.1:c.1033+2065C>T	XP_011513730.1:n.1033+2065C>T
XM_011515429.1:c.718C>T	XP_011513731.1:p.Gln240Ter
XM_011515430.1:c.718C>T	XP_011513732.1:p.Gln240Ter
NM_000535.6:c.1036C>T	NP_000526.2:p.Gln346Ter
NM_001322003.1:c.631C>T	NP_001308932.1:p.Gln211Ter
NM_001322004.1:c.631C>T	NP_001308933.1:p.Gln211Ter
NM_001322005.1:c.631C>T	NP_001308934.1:p.Gln211Ter
NM_001322006.1:c.988+2065C>T	NP_001308935.1:n.988+2065C>T
NM_001322007.1:c.718C>T	NP_001308936.1:p.Gln240Ter
NM_001322008.1:c.718C>T	NP_001308937.1:p.Gln240Ter
NM_001322009.1:c.631C>T	NP_001308938.1:p.Gln211Ter
NM_001322010.1:c.583+2065C>T	NP_001308939.1:n.583+2065C>T
NM_001322011.1:c.103C>T	NP_001308940.1:p.Gln35Ter
NM_001322012.1:c.103C>T	NP_001308941.1:p.Gln35Ter
NM_001322013.1:c.463C>T	NP_001308942.1:p.Gln155Ter
NM_001322014.1:c.1036C>T	NP_001308943.1:p.Gln346Ter
NM_001322015.1:c.727C>T	NP_001308944.1:p.Gln243Ter
NR_136154.1:n.1123C>T
XM_006715744.4:c.103C>T	XP_006715807.1:p.Gln35Ter
XM_017012342.2:c.103C>T	XP_016867831.1:p.Gln35Ter
XM_024446800.1:c.583+2065C>T	XP_024302568.1:n.583+2065C>T
NM_000535.7:c.1036C>T MANE Select	NP_000526.2:p.Gln346Ter
NM_001322003.2:c.631C>T	NP_001308932.1:p.Gln211Ter
NM_001322004.2:c.631C>T	NP_001308933.1:p.Gln211Ter
NM_001322005.2:c.631C>T	NP_001308934.1:p.Gln211Ter
NM_001322006.2:c.988+2065C>T	NP_001308935.1:n.988+2065C>T
NM_001322008.2:c.718C>T	NP_001308937.1:p.Gln240Ter
NM_001322009.2:c.631C>T	NP_001308938.1:p.Gln211Ter
NM_001322010.2:c.583+2065C>T	NP_001308939.1:n.583+2065C>T
NM_001322011.2:c.103C>T	NP_001308940.1:p.Gln35Ter
NM_001322012.2:c.103C>T	NP_001308941.1:p.Gln35Ter
NM_001322013.2:c.463C>T	NP_001308942.1:p.Gln155Ter
NM_001322014.2:c.1036C>T	NP_001308943.1:p.Gln346Ter
NM_001322015.2:c.727C>T	NP_001308944.1:p.Gln243Ter
NM_001322007.2:c.718C>T	NP_001308936.1:p.Gln240Ter