Canonical Allele Identifier: CA046194

Gene: PMS2

Linked Data

• ClinVar Variation Id: 503869
• ClinVar RCV Id: RCV000598632
• dbSNP Id: rs773174603
• ExAC: 7:6026390 CT / C
• gnomAD v2: 7-6026390-CT-C
• gnomAD v4: 7-5986759-CT-C
• MyVariant Identifiers: chr7:g.6026391del (hg19) ; chr7:g.5986760del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986761del , CM000669.2:g.5986761del	GRCh38
NC_000007.13:g.6026392del , CM000669.1:g.6026392del	GRCh37
NC_000007.12:g.5992918del	NCBI36
NG_008466.1:g.27347del , LRG_161:g.27347del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1401del	ENSP00000514615.2:n.*1401del
ENST00000699840.2:c.2002del	ENSP00000514638.2:p.Ser668ValfsTer19
ENST00000699930.2:c.1897del	ENSP00000514695.2:p.Ser633ValfsTer19
ENST00000406569.8:c.1678+327del	ENSP00000514464.1:n.1678+327del
ENST00000644110.2:c.*1599del	ENSP00000496392.2:n.*1599del
ENST00000699752.1:c.1849del	ENSP00000514561.1:p.Ser617ValfsTer19
ENST00000699753.1:c.*1426del	ENSP00000514562.1:n.*1426del
ENST00000699754.1:c.1807del	ENSP00000514563.1:p.Ser603ValfsTer19
ENST00000699755.1:c.*1404del	ENSP00000514564.1:n.*1404del
ENST00000699756.1:c.*1592del	ENSP00000514565.1:n.*1592del
ENST00000699757.1:c.*1262del	ENSP00000514566.1:n.*1262del
ENST00000699758.1:c.*1262del	ENSP00000514567.1:n.*1262del
ENST00000699759.1:n.2859del
ENST00000699760.1:c.1687del	ENSP00000514568.1:p.Ser563ValfsTer19
ENST00000699761.1:c.1600del	ENSP00000514569.1:p.Ser534ValfsTer19
ENST00000699762.1:c.1432del	ENSP00000514570.1:p.Ser478ValfsTer19
ENST00000699763.1:c.*1095del	ENSP00000514571.1:n.*1095del
ENST00000699764.1:c.*323del	ENSP00000514572.1:n.*323del
ENST00000699765.1:c.*1101del	ENSP00000514573.1:n.*1101del
ENST00000699766.1:c.2005del	ENSP00000514574.1:p.Ser669ValfsTer19
ENST00000699767.1:c.2005del	ENSP00000514575.1:p.Ser669ValfsTer19
ENST00000699768.1:c.2005del	ENSP00000514576.1:p.Ser669ValfsTer19
ENST00000699811.1:c.1600del	ENSP00000514614.1:p.Ser534ValfsTer19
ENST00000699813.1:n.2118del
ENST00000699814.1:c.1628del
ENST00000699815.1:c.*1536del	ENSP00000514616.1:n.*1536del
ENST00000699816.1:c.*895del	ENSP00000514617.1:n.*895del
ENST00000699817.1:c.*1599del	ENSP00000514618.1:n.*1599del
ENST00000699818.1:c.1600del	ENSP00000514619.1:p.Ser534ValfsTer19
ENST00000699819.1:c.*1162del	ENSP00000514620.1:n.*1162del
ENST00000699820.1:c.1144+3040del	ENSP00000514621.1:n.1144+3040del
ENST00000699821.1:c.1600del	ENSP00000514622.1:p.Ser534ValfsTer19
ENST00000699822.1:c.*1457del	ENSP00000514623.1:n.*1457del
ENST00000699823.1:c.1600del	ENSP00000514624.1:p.Ser534ValfsTer19
ENST00000699824.1:c.*1508del	ENSP00000514625.1:n.*1508del
ENST00000699825.1:c.1444del	ENSP00000514626.1:p.Ser482ValfsTer19
ENST00000699826.1:c.*1404del	ENSP00000514627.1:n.*1404del
ENST00000699827.1:c.1837del	ENSP00000514628.1:p.Ser613ValfsTer19
ENST00000699828.1:c.*1095del	ENSP00000514629.1:n.*1095del
ENST00000699833.1:n.3777del
ENST00000699837.1:c.1600del	ENSP00000514635.1:p.Ser534ValfsTer19
ENST00000699838.1:c.*1905del	ENSP00000514636.1:n.*1905del
ENST00000699839.1:c.2191del	ENSP00000514637.1:p.Ser731ValfsTer19
ENST00000699916.1:c.*1262del	ENSP00000514684.1:n.*1262del
ENST00000699917.1:c.*1454del	ENSP00000514685.1:n.*1454del
ENST00000699918.1:c.*1506del	ENSP00000514686.1:n.*1506del
ENST00000699919.1:c.*1592del	ENSP00000514687.1:n.*1592del
ENST00000699920.1:c.*1641del	ENSP00000514688.1:n.*1641del
ENST00000699928.1:c.989-3769del	ENSP00000514693.1:n.989-3769del
ENST00000699951.1:c.*1101del	ENSP00000514706.1:n.*1101del
ENST00000699952.1:c.803+10566del	ENSP00000514707.1:n.803+10566del
ENST00000265849.12:c.2005del MANE Select	ENSP00000265849.7:p.Ser669ValfsTer19
ENST00000642292.1:c.1600del	ENSP00000495524.1:p.Ser534ValfsTer19
ENST00000642456.1:c.1600del	ENSP00000493814.1:p.Ser534ValfsTer19
ENST00000643595.1:c.*1404del	ENSP00000494497.1:n.*1404del
ENST00000644110.1:c.1687del	ENSP00000496392.1:p.Ser563ValfsTer19
ENST00000265849.11:c.2005del	ENSP00000265849.7:p.Ser669ValfsTer19
ENST00000382321.5:c.804-3769del	ENSP00000371758.4:n.804-3769del
ENST00000406569.7:n.1678+327del
ENST00000441476.6:c.1687del	ENSP00000392843.2:p.Ser563ValfsTer19
ENST00000469652.1:n.63-3855del
NM_000535.5:c.2005del , LRG_161t1:c.2005del	NP_000526.1:p.Ser669ValfsTer19
NR_003085.2:n.2087del
XM_006715742.2:c.1999del	XP_006715805.1:p.Ser667ValfsTer19
XM_006715744.2:c.1072del	XP_006715807.1:p.Ser358ValfsTer19
XM_011515427.1:c.2050del	XP_011513729.1:p.Ser684ValfsTer19
XM_011515428.1:c.1894del	XP_011513730.1:p.Ser632ValfsTer19
XM_011515429.1:c.1687del	XP_011513731.1:p.Ser563ValfsTer19
XM_011515430.1:c.1687del	XP_011513732.1:p.Ser563ValfsTer19
NM_000535.6:c.2005del	NP_000526.2:p.Ser669ValfsTer19
NM_001322003.1:c.1600del	NP_001308932.1:p.Ser534ValfsTer19
NM_001322004.1:c.1600del	NP_001308933.1:p.Ser534ValfsTer19
NM_001322005.1:c.1600del	NP_001308934.1:p.Ser534ValfsTer19
NM_001322006.1:c.1849del	NP_001308935.1:p.Ser617ValfsTer19
NM_001322007.1:c.1687del	NP_001308936.1:p.Ser563ValfsTer19
NM_001322008.1:c.1687del	NP_001308937.1:p.Ser563ValfsTer19
NM_001322009.1:c.1600del	NP_001308938.1:p.Ser534ValfsTer19
NM_001322010.1:c.1444del	NP_001308939.1:p.Ser482ValfsTer19
NM_001322011.1:c.1072del	NP_001308940.1:p.Ser358ValfsTer19
NM_001322012.1:c.1072del	NP_001308941.1:p.Ser358ValfsTer19
NM_001322013.1:c.1432del	NP_001308942.1:p.Ser478ValfsTer19
NM_001322014.1:c.2005del	NP_001308943.1:p.Ser669ValfsTer19
NM_001322015.1:c.1696del	NP_001308944.1:p.Ser566ValfsTer19
NR_136154.1:n.2092del
XM_006715744.4:c.1072del	XP_006715807.1:p.Ser358ValfsTer19
XM_017012342.2:c.1072del	XP_016867831.1:p.Ser358ValfsTer19
XM_024446800.1:c.1444del	XP_024302568.1:p.Ser482ValfsTer19
NM_000535.7:c.2005del MANE Select	NP_000526.2:p.Ser669ValfsTer19
NM_001322003.2:c.1600del	NP_001308932.1:p.Ser534ValfsTer19
NM_001322004.2:c.1600del	NP_001308933.1:p.Ser534ValfsTer19
NM_001322005.2:c.1600del	NP_001308934.1:p.Ser534ValfsTer19
NM_001322006.2:c.1849del	NP_001308935.1:p.Ser617ValfsTer19
NM_001322008.2:c.1687del	NP_001308937.1:p.Ser563ValfsTer19
NM_001322009.2:c.1600del	NP_001308938.1:p.Ser534ValfsTer19
NM_001322010.2:c.1444del	NP_001308939.1:p.Ser482ValfsTer19
NM_001322011.2:c.1072del	NP_001308940.1:p.Ser358ValfsTer19
NM_001322012.2:c.1072del	NP_001308941.1:p.Ser358ValfsTer19
NM_001322013.2:c.1432del	NP_001308942.1:p.Ser478ValfsTer19
NM_001322014.2:c.2005del	NP_001308943.1:p.Ser669ValfsTer19
NM_001322015.2:c.1696del	NP_001308944.1:p.Ser566ValfsTer19
NM_001322007.2:c.1687del	NP_001308936.1:p.Ser563ValfsTer19