Canonical Allele Identifier: CA010207

Gene: PMS2

Linked Data

• ClinVar Variation Id: 91312
• ClinVar RCV Id: RCV000076824 ; RCV000129628 ; RCV000260402 ; RCV000524446 ; RCV002307391 ; RCV003452986
• dbSNP Id: rs267608169
• MyVariant Identifiers: chr7:g.6026658T>A (hg19) ; chr7:g.5987027T>A (hg38)
• PubMed: PMID:18602922 ; PMID:28454591 ; PMID:28514183

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987027T>A , CM000669.2:g.5987027T>A	GRCh38
NC_000007.13:g.6026658T>A , CM000669.1:g.6026658T>A	GRCh37
NC_000007.12:g.5993184T>A	NCBI36
NG_008466.1:g.27080A>T , LRG_161:g.27080A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1134A>T	ENSP00000514615.2:n.*1134A>T
ENST00000699840.2:c.1735A>T	ENSP00000514638.2:p.Lys579Ter
ENST00000699930.2:c.1630A>T	ENSP00000514695.2:p.Lys544Ter
ENST00000406569.8:c.1678+60A>T	ENSP00000514464.1:n.1678+60A>T
ENST00000644110.2:c.*1332A>T	ENSP00000496392.2:n.*1332A>T
ENST00000699752.1:c.1582A>T	ENSP00000514561.1:p.Lys528Ter
ENST00000699753.1:c.*1159A>T	ENSP00000514562.1:n.*1159A>T
ENST00000699754.1:c.1540A>T	ENSP00000514563.1:p.Lys514Ter
ENST00000699755.1:c.*1137A>T	ENSP00000514564.1:n.*1137A>T
ENST00000699756.1:c.*1325A>T	ENSP00000514565.1:n.*1325A>T
ENST00000699757.1:c.*995A>T	ENSP00000514566.1:n.*995A>T
ENST00000699758.1:c.*995A>T	ENSP00000514567.1:n.*995A>T
ENST00000699759.1:n.2592A>T
ENST00000699760.1:c.1420A>T	ENSP00000514568.1:p.Lys474Ter
ENST00000699761.1:c.1333A>T	ENSP00000514569.1:p.Lys445Ter
ENST00000699762.1:c.1165A>T	ENSP00000514570.1:p.Lys389Ter
ENST00000699763.1:c.*828A>T	ENSP00000514571.1:n.*828A>T
ENST00000699764.1:c.*56A>T	ENSP00000514572.1:n.*56A>T
ENST00000699765.1:c.*834A>T	ENSP00000514573.1:n.*834A>T
ENST00000699766.1:c.1738A>T	ENSP00000514574.1:p.Lys580Ter
ENST00000699767.1:c.1738A>T	ENSP00000514575.1:p.Lys580Ter
ENST00000699768.1:c.1738A>T	ENSP00000514576.1:p.Lys580Ter
ENST00000699811.1:c.1333A>T	ENSP00000514614.1:p.Lys445Ter
ENST00000699813.1:n.1851A>T
ENST00000699814.1:c.1361A>T
ENST00000699815.1:c.*1269A>T	ENSP00000514616.1:n.*1269A>T
ENST00000699816.1:c.*628A>T	ENSP00000514617.1:n.*628A>T
ENST00000699817.1:c.*1332A>T	ENSP00000514618.1:n.*1332A>T
ENST00000699818.1:c.1333A>T	ENSP00000514619.1:p.Lys445Ter
ENST00000699819.1:c.*895A>T	ENSP00000514620.1:n.*895A>T
ENST00000699820.1:c.1144+2773A>T	ENSP00000514621.1:n.1144+2773A>T
ENST00000699821.1:c.1333A>T	ENSP00000514622.1:p.Lys445Ter
ENST00000699822.1:c.*1190A>T	ENSP00000514623.1:n.*1190A>T
ENST00000699823.1:c.1333A>T	ENSP00000514624.1:p.Lys445Ter
ENST00000699824.1:c.*1241A>T	ENSP00000514625.1:n.*1241A>T
ENST00000699825.1:c.1177A>T	ENSP00000514626.1:p.Lys393Ter
ENST00000699826.1:c.*1137A>T	ENSP00000514627.1:n.*1137A>T
ENST00000699827.1:c.1570A>T	ENSP00000514628.1:p.Lys524Ter
ENST00000699828.1:c.*828A>T	ENSP00000514629.1:n.*828A>T
ENST00000699833.1:n.3510A>T
ENST00000699837.1:c.1333A>T	ENSP00000514635.1:p.Lys445Ter
ENST00000699838.1:c.*1638A>T	ENSP00000514636.1:n.*1638A>T
ENST00000699839.1:c.1924A>T	ENSP00000514637.1:p.Lys642Ter
ENST00000699916.1:c.*995A>T	ENSP00000514684.1:n.*995A>T
ENST00000699917.1:c.*1187A>T	ENSP00000514685.1:n.*1187A>T
ENST00000699918.1:c.*1239A>T	ENSP00000514686.1:n.*1239A>T
ENST00000699919.1:c.*1325A>T	ENSP00000514687.1:n.*1325A>T
ENST00000699920.1:c.*1374A>T	ENSP00000514688.1:n.*1374A>T
ENST00000699928.1:c.989-4036A>T	ENSP00000514693.1:n.989-4036A>T
ENST00000699929.1:c.*1039A>T	ENSP00000514694.1:n.*1039A>T
ENST00000699930.1:c.1630A>T	ENSP00000514695.1:p.Lys544Ter
ENST00000699931.1:n.3166A>T
ENST00000699951.1:c.*834A>T	ENSP00000514706.1:n.*834A>T
ENST00000699952.1:c.803+10299A>T	ENSP00000514707.1:n.803+10299A>T
ENST00000699953.1:c.*845A>T	ENSP00000514708.1:n.*845A>T
ENST00000699954.1:c.*1039A>T	ENSP00000514709.1:n.*1039A>T
ENST00000265849.12:c.1738A>T MANE Select	ENSP00000265849.7:p.Lys580Ter
ENST00000642292.1:c.1333A>T	ENSP00000495524.1:p.Lys445Ter
ENST00000642456.1:c.1333A>T	ENSP00000493814.1:p.Lys445Ter
ENST00000643595.1:c.*1137A>T	ENSP00000494497.1:n.*1137A>T
ENST00000644110.1:c.1420A>T	ENSP00000496392.1:p.Lys474Ter
ENST00000265849.11:c.1738A>T	ENSP00000265849.7:p.Lys580Ter
ENST00000382321.5:c.804-4036A>T	ENSP00000371758.4:n.804-4036A>T
ENST00000406569.7:n.1678+60A>T
ENST00000441476.6:c.1420A>T	ENSP00000392843.2:p.Lys474Ter
ENST00000469652.1:n.63-4122A>T
NM_000535.5:c.1738A>T , LRG_161t1:c.1738A>T	NP_000526.1:p.Lys580Ter
NR_003085.2:n.1820A>T
XM_006715742.2:c.1732A>T	XP_006715805.1:p.Lys578Ter
XM_006715744.2:c.805A>T	XP_006715807.1:p.Lys269Ter
XM_011515427.1:c.1783A>T	XP_011513729.1:p.Lys595Ter
XM_011515428.1:c.1627A>T	XP_011513730.1:p.Lys543Ter
XM_011515429.1:c.1420A>T	XP_011513731.1:p.Lys474Ter
XM_011515430.1:c.1420A>T	XP_011513732.1:p.Lys474Ter
NM_000535.6:c.1738A>T	NP_000526.2:p.Lys580Ter
NM_001322003.1:c.1333A>T	NP_001308932.1:p.Lys445Ter
NM_001322004.1:c.1333A>T	NP_001308933.1:p.Lys445Ter
NM_001322005.1:c.1333A>T	NP_001308934.1:p.Lys445Ter
NM_001322006.1:c.1582A>T	NP_001308935.1:p.Lys528Ter
NM_001322007.1:c.1420A>T	NP_001308936.1:p.Lys474Ter
NM_001322008.1:c.1420A>T	NP_001308937.1:p.Lys474Ter
NM_001322009.1:c.1333A>T	NP_001308938.1:p.Lys445Ter
NM_001322010.1:c.1177A>T	NP_001308939.1:p.Lys393Ter
NM_001322011.1:c.805A>T	NP_001308940.1:p.Lys269Ter
NM_001322012.1:c.805A>T	NP_001308941.1:p.Lys269Ter
NM_001322013.1:c.1165A>T	NP_001308942.1:p.Lys389Ter
NM_001322014.1:c.1738A>T	NP_001308943.1:p.Lys580Ter
NM_001322015.1:c.1429A>T	NP_001308944.1:p.Lys477Ter
NR_136154.1:n.1825A>T
XM_006715744.4:c.805A>T	XP_006715807.1:p.Lys269Ter
XM_017012342.2:c.805A>T	XP_016867831.1:p.Lys269Ter
XM_024446800.1:c.1177A>T	XP_024302568.1:p.Lys393Ter
NM_000535.7:c.1738A>T MANE Select	NP_000526.2:p.Lys580Ter
NM_001322003.2:c.1333A>T	NP_001308932.1:p.Lys445Ter
NM_001322004.2:c.1333A>T	NP_001308933.1:p.Lys445Ter
NM_001322005.2:c.1333A>T	NP_001308934.1:p.Lys445Ter
NM_001322006.2:c.1582A>T	NP_001308935.1:p.Lys528Ter
NM_001322008.2:c.1420A>T	NP_001308937.1:p.Lys474Ter
NM_001322009.2:c.1333A>T	NP_001308938.1:p.Lys445Ter
NM_001322010.2:c.1177A>T	NP_001308939.1:p.Lys393Ter
NM_001322011.2:c.805A>T	NP_001308940.1:p.Lys269Ter
NM_001322012.2:c.805A>T	NP_001308941.1:p.Lys269Ter
NM_001322013.2:c.1165A>T	NP_001308942.1:p.Lys389Ter
NM_001322014.2:c.1738A>T	NP_001308943.1:p.Lys580Ter
NM_001322015.2:c.1429A>T	NP_001308944.1:p.Lys477Ter
NM_001322007.2:c.1420A>T	NP_001308936.1:p.Lys474Ter