Canonical Allele Identifier: CA366739636

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2788318
• ClinVar RCV Id: RCV003760039
• gnomAD v4: 7-5986925-T-C
• MyVariant Identifiers: chr7:g.6026556T>C (hg19) ; chr7:g.5986925T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986925T>C , CM000669.2:g.5986925T>C	GRCh38
NC_000007.13:g.6026556T>C , CM000669.1:g.6026556T>C	GRCh37
NC_000007.12:g.5993082T>C	NCBI36
NG_008466.1:g.27182A>G , LRG_161:g.27182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1236A>G	ENSP00000514615.2:n.*1236A>G
ENST00000699840.2:c.1837A>G	ENSP00000514638.2:p.Lys613Glu
ENST00000699930.2:c.1732A>G	ENSP00000514695.2:p.Lys578Glu
ENST00000406569.8:c.1678+162A>G	ENSP00000514464.1:n.1678+162A>G
ENST00000644110.2:c.*1434A>G	ENSP00000496392.2:n.*1434A>G
ENST00000699752.1:c.1684A>G	ENSP00000514561.1:p.Lys562Glu
ENST00000699753.1:c.*1261A>G	ENSP00000514562.1:n.*1261A>G
ENST00000699754.1:c.1642A>G	ENSP00000514563.1:p.Lys548Glu
ENST00000699755.1:c.*1239A>G	ENSP00000514564.1:n.*1239A>G
ENST00000699756.1:c.*1427A>G	ENSP00000514565.1:n.*1427A>G
ENST00000699757.1:c.*1097A>G	ENSP00000514566.1:n.*1097A>G
ENST00000699758.1:c.*1097A>G	ENSP00000514567.1:n.*1097A>G
ENST00000699759.1:n.2694A>G
ENST00000699760.1:c.1522A>G	ENSP00000514568.1:p.Lys508Glu
ENST00000699761.1:c.1435A>G	ENSP00000514569.1:p.Lys479Glu
ENST00000699762.1:c.1267A>G	ENSP00000514570.1:p.Lys423Glu
ENST00000699763.1:c.*930A>G	ENSP00000514571.1:n.*930A>G
ENST00000699764.1:c.*158A>G	ENSP00000514572.1:n.*158A>G
ENST00000699765.1:c.*936A>G	ENSP00000514573.1:n.*936A>G
ENST00000699766.1:c.1840A>G	ENSP00000514574.1:p.Lys614Glu
ENST00000699767.1:c.1840A>G	ENSP00000514575.1:p.Lys614Glu
ENST00000699768.1:c.1840A>G	ENSP00000514576.1:p.Lys614Glu
ENST00000699811.1:c.1435A>G	ENSP00000514614.1:p.Lys479Glu
ENST00000699813.1:n.1953A>G
ENST00000699814.1:c.1463A>G
ENST00000699815.1:c.*1371A>G	ENSP00000514616.1:n.*1371A>G
ENST00000699816.1:c.*730A>G	ENSP00000514617.1:n.*730A>G
ENST00000699817.1:c.*1434A>G	ENSP00000514618.1:n.*1434A>G
ENST00000699818.1:c.1435A>G	ENSP00000514619.1:p.Lys479Glu
ENST00000699819.1:c.*997A>G	ENSP00000514620.1:n.*997A>G
ENST00000699820.1:c.1144+2875A>G	ENSP00000514621.1:n.1144+2875A>G
ENST00000699821.1:c.1435A>G	ENSP00000514622.1:p.Lys479Glu
ENST00000699822.1:c.*1292A>G	ENSP00000514623.1:n.*1292A>G
ENST00000699823.1:c.1435A>G	ENSP00000514624.1:p.Lys479Glu
ENST00000699824.1:c.*1343A>G	ENSP00000514625.1:n.*1343A>G
ENST00000699825.1:c.1279A>G	ENSP00000514626.1:p.Lys427Glu
ENST00000699826.1:c.*1239A>G	ENSP00000514627.1:n.*1239A>G
ENST00000699827.1:c.1672A>G	ENSP00000514628.1:p.Lys558Glu
ENST00000699828.1:c.*930A>G	ENSP00000514629.1:n.*930A>G
ENST00000699833.1:n.3612A>G
ENST00000699837.1:c.1435A>G	ENSP00000514635.1:p.Lys479Glu
ENST00000699838.1:c.*1740A>G	ENSP00000514636.1:n.*1740A>G
ENST00000699839.1:c.2026A>G	ENSP00000514637.1:p.Lys676Glu
ENST00000699916.1:c.*1097A>G	ENSP00000514684.1:n.*1097A>G
ENST00000699917.1:c.*1289A>G	ENSP00000514685.1:n.*1289A>G
ENST00000699918.1:c.*1341A>G	ENSP00000514686.1:n.*1341A>G
ENST00000699919.1:c.*1427A>G	ENSP00000514687.1:n.*1427A>G
ENST00000699920.1:c.*1476A>G	ENSP00000514688.1:n.*1476A>G
ENST00000699928.1:c.989-3934A>G	ENSP00000514693.1:n.989-3934A>G
ENST00000699951.1:c.*936A>G	ENSP00000514706.1:n.*936A>G
ENST00000699952.1:c.803+10401A>G	ENSP00000514707.1:n.803+10401A>G
ENST00000265849.12:c.1840A>G MANE Select	ENSP00000265849.7:p.Lys614Glu
ENST00000642292.1:c.1435A>G	ENSP00000495524.1:p.Lys479Glu
ENST00000642456.1:c.1435A>G	ENSP00000493814.1:p.Lys479Glu
ENST00000643595.1:c.*1239A>G	ENSP00000494497.1:n.*1239A>G
ENST00000644110.1:c.1522A>G	ENSP00000496392.1:p.Lys508Glu
ENST00000265849.11:c.1840A>G	ENSP00000265849.7:p.Lys614Glu
ENST00000382321.5:c.804-3934A>G	ENSP00000371758.4:n.804-3934A>G
ENST00000406569.7:n.1678+162A>G
ENST00000441476.6:c.1522A>G	ENSP00000392843.2:p.Lys508Glu
ENST00000469652.1:n.63-4020A>G
NM_000535.5:c.1840A>G , LRG_161t1:c.1840A>G	NP_000526.1:p.Lys614Glu
NR_003085.2:n.1922A>G
XM_006715742.2:c.1834A>G	XP_006715805.1:p.Lys612Glu
XM_006715744.2:c.907A>G	XP_006715807.1:p.Lys303Glu
XM_011515427.1:c.1885A>G	XP_011513729.1:p.Lys629Glu
XM_011515428.1:c.1729A>G	XP_011513730.1:p.Lys577Glu
XM_011515429.1:c.1522A>G	XP_011513731.1:p.Lys508Glu
XM_011515430.1:c.1522A>G	XP_011513732.1:p.Lys508Glu
NM_000535.6:c.1840A>G	NP_000526.2:p.Lys614Glu
NM_001322003.1:c.1435A>G	NP_001308932.1:p.Lys479Glu
NM_001322004.1:c.1435A>G	NP_001308933.1:p.Lys479Glu
NM_001322005.1:c.1435A>G	NP_001308934.1:p.Lys479Glu
NM_001322006.1:c.1684A>G	NP_001308935.1:p.Lys562Glu
NM_001322007.1:c.1522A>G	NP_001308936.1:p.Lys508Glu
NM_001322008.1:c.1522A>G	NP_001308937.1:p.Lys508Glu
NM_001322009.1:c.1435A>G	NP_001308938.1:p.Lys479Glu
NM_001322010.1:c.1279A>G	NP_001308939.1:p.Lys427Glu
NM_001322011.1:c.907A>G	NP_001308940.1:p.Lys303Glu
NM_001322012.1:c.907A>G	NP_001308941.1:p.Lys303Glu
NM_001322013.1:c.1267A>G	NP_001308942.1:p.Lys423Glu
NM_001322014.1:c.1840A>G	NP_001308943.1:p.Lys614Glu
NM_001322015.1:c.1531A>G	NP_001308944.1:p.Lys511Glu
NR_136154.1:n.1927A>G
XM_006715744.4:c.907A>G	XP_006715807.1:p.Lys303Glu
XM_017012342.2:c.907A>G	XP_016867831.1:p.Lys303Glu
XM_024446800.1:c.1279A>G	XP_024302568.1:p.Lys427Glu
NM_000535.7:c.1840A>G MANE Select	NP_000526.2:p.Lys614Glu
NM_001322003.2:c.1435A>G	NP_001308932.1:p.Lys479Glu
NM_001322004.2:c.1435A>G	NP_001308933.1:p.Lys479Glu
NM_001322005.2:c.1435A>G	NP_001308934.1:p.Lys479Glu
NM_001322006.2:c.1684A>G	NP_001308935.1:p.Lys562Glu
NM_001322008.2:c.1522A>G	NP_001308937.1:p.Lys508Glu
NM_001322009.2:c.1435A>G	NP_001308938.1:p.Lys479Glu
NM_001322010.2:c.1279A>G	NP_001308939.1:p.Lys427Glu
NM_001322011.2:c.907A>G	NP_001308940.1:p.Lys303Glu
NM_001322012.2:c.907A>G	NP_001308941.1:p.Lys303Glu
NM_001322013.2:c.1267A>G	NP_001308942.1:p.Lys423Glu
NM_001322014.2:c.1840A>G	NP_001308943.1:p.Lys614Glu
NM_001322015.2:c.1531A>G	NP_001308944.1:p.Lys511Glu
NM_001322007.2:c.1522A>G	NP_001308936.1:p.Lys508Glu