Canonical Allele Identifier: CA10629440

Gene: PMS2

Linked Data

• ClinVar Variation Id: 360542
• ClinVar RCV Id: RCV000278327 ; RCV000482265 ; RCV000543398 ; RCV000562926 ; RCV001093664
• dbSNP Id: rs886062400
• gnomAD v2: 7-6026478-C-T
• gnomAD v3: 7-5986847-C-T
• gnomAD v4: 7-5986847-C-T
• MyVariant Identifiers: chr7:g.6026478C>T (hg19) ; chr7:g.5986847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986847C>T , CM000669.2:g.5986847C>T	GRCh38
NC_000007.13:g.6026478C>T , CM000669.1:g.6026478C>T	GRCh37
NC_000007.12:g.5993004C>T	NCBI36
NG_008466.1:g.27260G>A , LRG_161:g.27260G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1314G>A	ENSP00000514615.2:n.*1314G>A
ENST00000699840.2:c.1915G>A	ENSP00000514638.2:p.Glu639Lys
ENST00000699930.2:c.1810G>A	ENSP00000514695.2:p.Glu604Lys
ENST00000406569.8:c.1678+240G>A	ENSP00000514464.1:n.1678+240G>A
ENST00000644110.2:c.*1512G>A	ENSP00000496392.2:n.*1512G>A
ENST00000699752.1:c.1762G>A	ENSP00000514561.1:p.Glu588Lys
ENST00000699753.1:c.*1339G>A	ENSP00000514562.1:n.*1339G>A
ENST00000699754.1:c.1720G>A	ENSP00000514563.1:p.Glu574Lys
ENST00000699755.1:c.*1317G>A	ENSP00000514564.1:n.*1317G>A
ENST00000699756.1:c.*1505G>A	ENSP00000514565.1:n.*1505G>A
ENST00000699757.1:c.*1175G>A	ENSP00000514566.1:n.*1175G>A
ENST00000699758.1:c.*1175G>A	ENSP00000514567.1:n.*1175G>A
ENST00000699759.1:n.2772G>A
ENST00000699760.1:c.1600G>A	ENSP00000514568.1:p.Glu534Lys
ENST00000699761.1:c.1513G>A	ENSP00000514569.1:p.Glu505Lys
ENST00000699762.1:c.1345G>A	ENSP00000514570.1:p.Glu449Lys
ENST00000699763.1:c.*1008G>A	ENSP00000514571.1:n.*1008G>A
ENST00000699764.1:c.*236G>A	ENSP00000514572.1:n.*236G>A
ENST00000699765.1:c.*1014G>A	ENSP00000514573.1:n.*1014G>A
ENST00000699766.1:c.1918G>A	ENSP00000514574.1:p.Glu640Lys
ENST00000699767.1:c.1918G>A	ENSP00000514575.1:p.Glu640Lys
ENST00000699768.1:c.1918G>A	ENSP00000514576.1:p.Glu640Lys
ENST00000699811.1:c.1513G>A	ENSP00000514614.1:p.Glu505Lys
ENST00000699813.1:n.2031G>A
ENST00000699814.1:c.1541G>A
ENST00000699815.1:c.*1449G>A	ENSP00000514616.1:n.*1449G>A
ENST00000699816.1:c.*808G>A	ENSP00000514617.1:n.*808G>A
ENST00000699817.1:c.*1512G>A	ENSP00000514618.1:n.*1512G>A
ENST00000699818.1:c.1513G>A	ENSP00000514619.1:p.Glu505Lys
ENST00000699819.1:c.*1075G>A	ENSP00000514620.1:n.*1075G>A
ENST00000699820.1:c.1144+2953G>A	ENSP00000514621.1:n.1144+2953G>A
ENST00000699821.1:c.1513G>A	ENSP00000514622.1:p.Glu505Lys
ENST00000699822.1:c.*1370G>A	ENSP00000514623.1:n.*1370G>A
ENST00000699823.1:c.1513G>A	ENSP00000514624.1:p.Glu505Lys
ENST00000699824.1:c.*1421G>A	ENSP00000514625.1:n.*1421G>A
ENST00000699825.1:c.1357G>A	ENSP00000514626.1:p.Glu453Lys
ENST00000699826.1:c.*1317G>A	ENSP00000514627.1:n.*1317G>A
ENST00000699827.1:c.1750G>A	ENSP00000514628.1:p.Glu584Lys
ENST00000699828.1:c.*1008G>A	ENSP00000514629.1:n.*1008G>A
ENST00000699833.1:n.3690G>A
ENST00000699837.1:c.1513G>A	ENSP00000514635.1:p.Glu505Lys
ENST00000699838.1:c.*1818G>A	ENSP00000514636.1:n.*1818G>A
ENST00000699839.1:c.2104G>A	ENSP00000514637.1:p.Glu702Lys
ENST00000699916.1:c.*1175G>A	ENSP00000514684.1:n.*1175G>A
ENST00000699917.1:c.*1367G>A	ENSP00000514685.1:n.*1367G>A
ENST00000699918.1:c.*1419G>A	ENSP00000514686.1:n.*1419G>A
ENST00000699919.1:c.*1505G>A	ENSP00000514687.1:n.*1505G>A
ENST00000699920.1:c.*1554G>A	ENSP00000514688.1:n.*1554G>A
ENST00000699928.1:c.989-3856G>A	ENSP00000514693.1:n.989-3856G>A
ENST00000699951.1:c.*1014G>A	ENSP00000514706.1:n.*1014G>A
ENST00000699952.1:c.803+10479G>A	ENSP00000514707.1:n.803+10479G>A
ENST00000265849.12:c.1918G>A MANE Select	ENSP00000265849.7:p.Glu640Lys
ENST00000642292.1:c.1513G>A	ENSP00000495524.1:p.Glu505Lys
ENST00000642456.1:c.1513G>A	ENSP00000493814.1:p.Glu505Lys
ENST00000643595.1:c.*1317G>A	ENSP00000494497.1:n.*1317G>A
ENST00000644110.1:c.1600G>A	ENSP00000496392.1:p.Glu534Lys
ENST00000265849.11:c.1918G>A	ENSP00000265849.7:p.Glu640Lys
ENST00000382321.5:c.804-3856G>A	ENSP00000371758.4:n.804-3856G>A
ENST00000406569.7:n.1678+240G>A
ENST00000441476.6:c.1600G>A	ENSP00000392843.2:p.Glu534Lys
ENST00000469652.1:n.63-3942G>A
NM_000535.5:c.1918G>A , LRG_161t1:c.1918G>A	NP_000526.1:p.Glu640Lys
NR_003085.2:n.2000G>A
XM_006715742.2:c.1912G>A	XP_006715805.1:p.Glu638Lys
XM_006715744.2:c.985G>A	XP_006715807.1:p.Glu329Lys
XM_011515427.1:c.1963G>A	XP_011513729.1:p.Glu655Lys
XM_011515428.1:c.1807G>A	XP_011513730.1:p.Glu603Lys
XM_011515429.1:c.1600G>A	XP_011513731.1:p.Glu534Lys
XM_011515430.1:c.1600G>A	XP_011513732.1:p.Glu534Lys
NM_000535.6:c.1918G>A	NP_000526.2:p.Glu640Lys
NM_001322003.1:c.1513G>A	NP_001308932.1:p.Glu505Lys
NM_001322004.1:c.1513G>A	NP_001308933.1:p.Glu505Lys
NM_001322005.1:c.1513G>A	NP_001308934.1:p.Glu505Lys
NM_001322006.1:c.1762G>A	NP_001308935.1:p.Glu588Lys
NM_001322007.1:c.1600G>A	NP_001308936.1:p.Glu534Lys
NM_001322008.1:c.1600G>A	NP_001308937.1:p.Glu534Lys
NM_001322009.1:c.1513G>A	NP_001308938.1:p.Glu505Lys
NM_001322010.1:c.1357G>A	NP_001308939.1:p.Glu453Lys
NM_001322011.1:c.985G>A	NP_001308940.1:p.Glu329Lys
NM_001322012.1:c.985G>A	NP_001308941.1:p.Glu329Lys
NM_001322013.1:c.1345G>A	NP_001308942.1:p.Glu449Lys
NM_001322014.1:c.1918G>A	NP_001308943.1:p.Glu640Lys
NM_001322015.1:c.1609G>A	NP_001308944.1:p.Glu537Lys
NR_136154.1:n.2005G>A
XM_006715744.4:c.985G>A	XP_006715807.1:p.Glu329Lys
XM_017012342.2:c.985G>A	XP_016867831.1:p.Glu329Lys
XM_024446800.1:c.1357G>A	XP_024302568.1:p.Glu453Lys
NM_000535.7:c.1918G>A MANE Select	NP_000526.2:p.Glu640Lys
NM_001322003.2:c.1513G>A	NP_001308932.1:p.Glu505Lys
NM_001322004.2:c.1513G>A	NP_001308933.1:p.Glu505Lys
NM_001322005.2:c.1513G>A	NP_001308934.1:p.Glu505Lys
NM_001322006.2:c.1762G>A	NP_001308935.1:p.Glu588Lys
NM_001322008.2:c.1600G>A	NP_001308937.1:p.Glu534Lys
NM_001322009.2:c.1513G>A	NP_001308938.1:p.Glu505Lys
NM_001322010.2:c.1357G>A	NP_001308939.1:p.Glu453Lys
NM_001322011.2:c.985G>A	NP_001308940.1:p.Glu329Lys
NM_001322012.2:c.985G>A	NP_001308941.1:p.Glu329Lys
NM_001322013.2:c.1345G>A	NP_001308942.1:p.Glu449Lys
NM_001322014.2:c.1918G>A	NP_001308943.1:p.Glu640Lys
NM_001322015.2:c.1609G>A	NP_001308944.1:p.Glu537Lys
NM_001322007.2:c.1600G>A	NP_001308936.1:p.Glu534Lys