Canonical Allele Identifier: CA045125

Gene: PMS2

Linked Data

• ClinVar Variation Id: 230426
• ClinVar RCV Id: RCV000221050 ; RCV000477462 ; RCV001199942
• dbSNP Id: rs587778618
• ExAC: 7:6026709 G / T
• gnomAD v2: 7-6026709-G-T
• gnomAD v3: 7-5987078-G-T
• gnomAD v4: 7-5987078-G-T
• COSMIC: COSM1091087
• MyVariant Identifiers: chr7:g.6026709G>T (hg19) ; chr7:g.5987078G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987078G>T , CM000669.2:g.5987078G>T	GRCh38
NC_000007.13:g.6026709G>T , CM000669.1:g.6026709G>T	GRCh37
NC_000007.12:g.5993235G>T	NCBI36
NG_008466.1:g.27029C>A , LRG_161:g.27029C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1083C>A	ENSP00000514615.2:n.*1083C>A
ENST00000699840.2:c.1684C>A	ENSP00000514638.2:p.Arg562=
ENST00000699930.2:c.1579C>A	ENSP00000514695.2:p.Arg527=
ENST00000406569.8:c.1678+9C>A	ENSP00000514464.1:n.1678+9C>A
ENST00000644110.2:c.*1281C>A	ENSP00000496392.2:n.*1281C>A
ENST00000699752.1:c.1531C>A	ENSP00000514561.1:p.Arg511=
ENST00000699753.1:c.*1108C>A	ENSP00000514562.1:n.*1108C>A
ENST00000699754.1:c.1489C>A	ENSP00000514563.1:p.Arg497=
ENST00000699755.1:c.*1086C>A	ENSP00000514564.1:n.*1086C>A
ENST00000699756.1:c.*1274C>A	ENSP00000514565.1:n.*1274C>A
ENST00000699757.1:c.*944C>A	ENSP00000514566.1:n.*944C>A
ENST00000699758.1:c.*944C>A	ENSP00000514567.1:n.*944C>A
ENST00000699759.1:n.2541C>A
ENST00000699760.1:c.1369C>A	ENSP00000514568.1:p.Arg457=
ENST00000699761.1:c.1282C>A	ENSP00000514569.1:p.Arg428=
ENST00000699762.1:c.1114C>A	ENSP00000514570.1:p.Arg372=
ENST00000699763.1:c.*777C>A	ENSP00000514571.1:n.*777C>A
ENST00000699764.1:c.*5C>A	ENSP00000514572.1:n.*5C>A
ENST00000699765.1:c.*783C>A	ENSP00000514573.1:n.*783C>A
ENST00000699766.1:c.1687C>A	ENSP00000514574.1:p.Arg563=
ENST00000699767.1:c.1687C>A	ENSP00000514575.1:p.Arg563=
ENST00000699768.1:c.1687C>A	ENSP00000514576.1:p.Arg563=
ENST00000699811.1:c.1282C>A	ENSP00000514614.1:p.Arg428=
ENST00000699813.1:n.1800C>A
ENST00000699814.1:c.1310C>A
ENST00000699815.1:c.*1218C>A	ENSP00000514616.1:n.*1218C>A
ENST00000699816.1:c.*577C>A	ENSP00000514617.1:n.*577C>A
ENST00000699817.1:c.*1281C>A	ENSP00000514618.1:n.*1281C>A
ENST00000699818.1:c.1282C>A	ENSP00000514619.1:p.Arg428=
ENST00000699819.1:c.*844C>A	ENSP00000514620.1:n.*844C>A
ENST00000699820.1:c.1144+2722C>A	ENSP00000514621.1:n.1144+2722C>A
ENST00000699821.1:c.1282C>A	ENSP00000514622.1:p.Arg428=
ENST00000699822.1:c.*1139C>A	ENSP00000514623.1:n.*1139C>A
ENST00000699823.1:c.1282C>A	ENSP00000514624.1:p.Arg428=
ENST00000699824.1:c.*1190C>A	ENSP00000514625.1:n.*1190C>A
ENST00000699825.1:c.1126C>A	ENSP00000514626.1:p.Arg376=
ENST00000699826.1:c.*1086C>A	ENSP00000514627.1:n.*1086C>A
ENST00000699827.1:c.1519C>A	ENSP00000514628.1:p.Arg507=
ENST00000699828.1:c.*777C>A	ENSP00000514629.1:n.*777C>A
ENST00000699833.1:n.3459C>A
ENST00000699837.1:c.1282C>A	ENSP00000514635.1:p.Arg428=
ENST00000699838.1:c.*1587C>A	ENSP00000514636.1:n.*1587C>A
ENST00000699839.1:c.1873C>A	ENSP00000514637.1:p.Arg625=
ENST00000699916.1:c.*944C>A	ENSP00000514684.1:n.*944C>A
ENST00000699917.1:c.*1136C>A	ENSP00000514685.1:n.*1136C>A
ENST00000699918.1:c.*1188C>A	ENSP00000514686.1:n.*1188C>A
ENST00000699919.1:c.*1274C>A	ENSP00000514687.1:n.*1274C>A
ENST00000699920.1:c.*1323C>A	ENSP00000514688.1:n.*1323C>A
ENST00000699928.1:c.989-4087C>A	ENSP00000514693.1:n.989-4087C>A
ENST00000699929.1:c.*988C>A	ENSP00000514694.1:n.*988C>A
ENST00000699930.1:c.1579C>A	ENSP00000514695.1:p.Arg527=
ENST00000699931.1:n.3115C>A
ENST00000699951.1:c.*783C>A	ENSP00000514706.1:n.*783C>A
ENST00000699952.1:c.803+10248C>A	ENSP00000514707.1:n.803+10248C>A
ENST00000699953.1:c.*794C>A	ENSP00000514708.1:n.*794C>A
ENST00000699954.1:c.*988C>A	ENSP00000514709.1:n.*988C>A
ENST00000265849.12:c.1687C>A MANE Select	ENSP00000265849.7:p.Arg563=
ENST00000642292.1:c.1282C>A	ENSP00000495524.1:p.Arg428=
ENST00000642456.1:c.1282C>A	ENSP00000493814.1:p.Arg428=
ENST00000643595.1:c.*1086C>A	ENSP00000494497.1:n.*1086C>A
ENST00000644110.1:c.1369C>A	ENSP00000496392.1:p.Arg457=
ENST00000265849.11:c.1687C>A	ENSP00000265849.7:p.Arg563=
ENST00000382321.5:c.804-4087C>A	ENSP00000371758.4:n.804-4087C>A
ENST00000406569.7:n.1678+9C>A
ENST00000441476.6:c.1369C>A	ENSP00000392843.2:p.Arg457=
ENST00000469652.1:n.63-4173C>A
NM_000535.5:c.1687C>A , LRG_161t1:c.1687C>A	NP_000526.1:p.Arg563=
NR_003085.2:n.1769C>A
XM_006715742.2:c.1681C>A	XP_006715805.1:p.Arg561=
XM_006715744.2:c.754C>A	XP_006715807.1:p.Arg252=
XM_011515427.1:c.1732C>A	XP_011513729.1:p.Arg578=
XM_011515428.1:c.1576C>A	XP_011513730.1:p.Arg526=
XM_011515429.1:c.1369C>A	XP_011513731.1:p.Arg457=
XM_011515430.1:c.1369C>A	XP_011513732.1:p.Arg457=
NM_000535.6:c.1687C>A	NP_000526.2:p.Arg563=
NM_001322003.1:c.1282C>A	NP_001308932.1:p.Arg428=
NM_001322004.1:c.1282C>A	NP_001308933.1:p.Arg428=
NM_001322005.1:c.1282C>A	NP_001308934.1:p.Arg428=
NM_001322006.1:c.1531C>A	NP_001308935.1:p.Arg511=
NM_001322007.1:c.1369C>A	NP_001308936.1:p.Arg457=
NM_001322008.1:c.1369C>A	NP_001308937.1:p.Arg457=
NM_001322009.1:c.1282C>A	NP_001308938.1:p.Arg428=
NM_001322010.1:c.1126C>A	NP_001308939.1:p.Arg376=
NM_001322011.1:c.754C>A	NP_001308940.1:p.Arg252=
NM_001322012.1:c.754C>A	NP_001308941.1:p.Arg252=
NM_001322013.1:c.1114C>A	NP_001308942.1:p.Arg372=
NM_001322014.1:c.1687C>A	NP_001308943.1:p.Arg563=
NM_001322015.1:c.1378C>A	NP_001308944.1:p.Arg460=
NR_136154.1:n.1774C>A
XM_006715744.4:c.754C>A	XP_006715807.1:p.Arg252=
XM_017012342.2:c.754C>A	XP_016867831.1:p.Arg252=
XM_024446800.1:c.1126C>A	XP_024302568.1:p.Arg376=
NM_000535.7:c.1687C>A MANE Select	NP_000526.2:p.Arg563=
NM_001322003.2:c.1282C>A	NP_001308932.1:p.Arg428=
NM_001322004.2:c.1282C>A	NP_001308933.1:p.Arg428=
NM_001322005.2:c.1282C>A	NP_001308934.1:p.Arg428=
NM_001322006.2:c.1531C>A	NP_001308935.1:p.Arg511=
NM_001322008.2:c.1369C>A	NP_001308937.1:p.Arg457=
NM_001322009.2:c.1282C>A	NP_001308938.1:p.Arg428=
NM_001322010.2:c.1126C>A	NP_001308939.1:p.Arg376=
NM_001322011.2:c.754C>A	NP_001308940.1:p.Arg252=
NM_001322012.2:c.754C>A	NP_001308941.1:p.Arg252=
NM_001322013.2:c.1114C>A	NP_001308942.1:p.Arg372=
NM_001322014.2:c.1687C>A	NP_001308943.1:p.Arg563=
NM_001322015.2:c.1378C>A	NP_001308944.1:p.Arg460=
NM_001322007.2:c.1369C>A	NP_001308936.1:p.Arg457=