Canonical Allele Identifier: CA658821571

Gene: PMS2

Linked Data

• ClinVar Variation Id: 546057
• ClinVar RCV Id: RCV000657836 ; RCV001244400 ; RCV002442377 ; RCV003451615
• dbSNP Id: rs1554293975
• MyVariant Identifiers: chr7:g.6017345dup (hg19) ; chr7:g.5977714dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977714dup , CM000669.2:g.5977714dup	GRCh38
NC_000007.13:g.6017345dup , CM000669.1:g.6017345dup	GRCh37
NC_000007.12:g.5983871dup	NCBI36
NG_008466.1:g.36393dup , LRG_161:g.36393dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1715dup	ENSP00000514615.2:n.*1715dup
ENST00000699840.2:c.2316dup	ENSP00000514638.2:p.Lys773Ter
ENST00000699930.2:c.2211dup	ENSP00000514695.2:p.Lys738Ter
ENST00000406569.8:c.1679dup	ENSP00000514464.1:p.Leu560PhefsTer?
ENST00000644110.2:c.*1913dup	ENSP00000496392.2:n.*1913dup
ENST00000699752.1:c.2163dup	ENSP00000514561.1:p.Lys722Ter
ENST00000699753.1:c.*1740dup	ENSP00000514562.1:n.*1740dup
ENST00000699754.1:c.2121dup	ENSP00000514563.1:p.Lys708Ter
ENST00000699755.1:c.*1718dup	ENSP00000514564.1:n.*1718dup
ENST00000699756.1:c.*1906dup	ENSP00000514565.1:n.*1906dup
ENST00000699757.1:c.*1576dup	ENSP00000514566.1:n.*1576dup
ENST00000699758.1:c.*1576dup	ENSP00000514567.1:n.*1576dup
ENST00000699759.1:n.3173dup
ENST00000699760.1:c.2001dup	ENSP00000514568.1:p.Lys668Ter
ENST00000699761.1:c.1914dup	ENSP00000514569.1:p.Lys639Ter
ENST00000699762.1:c.1746dup	ENSP00000514570.1:p.Lys583Ter
ENST00000699763.1:c.*1409dup	ENSP00000514571.1:n.*1409dup
ENST00000699764.1:c.*637dup	ENSP00000514572.1:n.*637dup
ENST00000699765.1:c.*1314dup	ENSP00000514573.1:n.*1314dup
ENST00000699766.1:c.2352dup	ENSP00000514574.1:p.Lys785Ter
ENST00000699767.1:c.2276dup	ENSP00000514575.1:p.Thr761AsnfsTer?
ENST00000699768.1:c.2175dup	ENSP00000514576.1:p.Lys726Ter
ENST00000699811.1:c.1914dup	ENSP00000514614.1:p.Lys639Ter
ENST00000699813.1:n.2432dup
ENST00000699814.1:c.1942dup
ENST00000699815.1:c.*1850dup	ENSP00000514616.1:n.*1850dup
ENST00000699816.1:c.*1209dup	ENSP00000514617.1:n.*1209dup
ENST00000699817.1:c.*1913dup	ENSP00000514618.1:n.*1913dup
ENST00000699818.1:c.1914dup	ENSP00000514619.1:p.Lys639Ter
ENST00000699819.1:c.*1476dup	ENSP00000514620.1:n.*1476dup
ENST00000699820.1:c.*257dup	ENSP00000514621.1:n.*257dup
ENST00000699821.1:c.1947dup	ENSP00000514622.1:p.Lys650Ter
ENST00000699822.1:c.*1771dup	ENSP00000514623.1:n.*1771dup
ENST00000699823.1:c.1914dup	ENSP00000514624.1:p.Lys639Ter
ENST00000699824.1:c.*1822dup	ENSP00000514625.1:n.*1822dup
ENST00000699825.1:c.1758dup	ENSP00000514626.1:p.Lys587Ter
ENST00000699826.1:c.*1718dup	ENSP00000514627.1:n.*1718dup
ENST00000699827.1:c.2151dup	ENSP00000514628.1:p.Lys718Ter
ENST00000699828.1:c.*1409dup	ENSP00000514629.1:n.*1409dup
ENST00000699833.1:n.4091dup
ENST00000699837.1:c.1914dup	ENSP00000514635.1:p.Lys639Ter
ENST00000699838.1:c.*2219dup	ENSP00000514636.1:n.*2219dup
ENST00000699839.1:c.2505dup	ENSP00000514637.1:p.Lys836Ter
ENST00000699916.1:c.*1576dup	ENSP00000514684.1:n.*1576dup
ENST00000699917.1:c.*1768dup	ENSP00000514685.1:n.*1768dup
ENST00000699918.1:c.*1820dup	ENSP00000514686.1:n.*1820dup
ENST00000699919.1:c.*1906dup	ENSP00000514687.1:n.*1906dup
ENST00000699920.1:c.*1955dup	ENSP00000514688.1:n.*1955dup
ENST00000699928.1:c.*257dup	ENSP00000514693.1:n.*257dup
ENST00000699951.1:c.*1372dup	ENSP00000514706.1:n.*1372dup
ENST00000699952.1:c.804-4172dup	ENSP00000514707.1:n.804-4172dup
ENST00000265849.12:c.2319dup MANE Select	ENSP00000265849.7:p.Lys774Ter
ENST00000642292.1:c.1914dup	ENSP00000495524.1:p.Lys639Ter
ENST00000642456.1:c.1914dup	ENSP00000493814.1:p.Lys639Ter
ENST00000643595.1:c.*1718dup	ENSP00000494497.1:n.*1718dup
ENST00000644110.1:c.2001dup	ENSP00000496392.1:p.Lys668Ter
ENST00000265849.11:c.2319dup	ENSP00000265849.7:p.Lys774Ter
ENST00000382321.5:c.1116dup	ENSP00000371758.4:p.Lys373Ter
ENST00000406569.7:n.1679dup
ENST00000441476.6:c.2001dup	ENSP00000392843.2:p.Lys668Ter
NM_000535.5:c.2319dup , LRG_161t1:c.2319dup	NP_000526.1:p.Lys774Ter
NR_003085.2:n.2401dup
XM_006715742.2:c.2313dup	XP_006715805.1:p.Lys772Ter
XM_006715744.2:c.1386dup	XP_006715807.1:p.Lys463Ter
XM_011515427.1:c.2364dup	XP_011513729.1:p.Lys789Ter
XM_011515428.1:c.2208dup	XP_011513730.1:p.Lys737Ter
XM_011515429.1:c.2001dup	XP_011513731.1:p.Lys668Ter
XM_011515430.1:c.2001dup	XP_011513732.1:p.Lys668Ter
NM_000535.6:c.2319dup	NP_000526.2:p.Lys774Ter
NM_001322003.1:c.1914dup	NP_001308932.1:p.Lys639Ter
NM_001322004.1:c.1914dup	NP_001308933.1:p.Lys639Ter
NM_001322005.1:c.1914dup	NP_001308934.1:p.Lys639Ter
NM_001322006.1:c.2163dup	NP_001308935.1:p.Lys722Ter
NM_001322007.1:c.2001dup	NP_001308936.1:p.Lys668Ter
NM_001322008.1:c.2001dup	NP_001308937.1:p.Lys668Ter
NM_001322009.1:c.1947dup	NP_001308938.1:p.Lys650Ter
NM_001322010.1:c.1758dup	NP_001308939.1:p.Lys587Ter
NM_001322011.1:c.1386dup	NP_001308940.1:p.Lys463Ter
NM_001322012.1:c.1386dup	NP_001308941.1:p.Lys463Ter
NM_001322013.1:c.1746dup	NP_001308942.1:p.Lys583Ter
NM_001322014.1:c.2352dup	NP_001308943.1:p.Lys785Ter
NM_001322015.1:c.2010dup	NP_001308944.1:p.Lys671Ter
NR_136154.1:n.2363dup
XM_006715744.4:c.1386dup	XP_006715807.1:p.Lys463Ter
XM_017012342.2:c.1386dup	XP_016867831.1:p.Lys463Ter
XM_024446800.1:c.1758dup	XP_024302568.1:p.Lys587Ter
NM_000535.7:c.2319dup MANE Select	NP_000526.2:p.Lys774Ter
NM_001322003.2:c.1914dup	NP_001308932.1:p.Lys639Ter
NM_001322004.2:c.1914dup	NP_001308933.1:p.Lys639Ter
NM_001322005.2:c.1914dup	NP_001308934.1:p.Lys639Ter
NM_001322006.2:c.2163dup	NP_001308935.1:p.Lys722Ter
NM_001322008.2:c.2001dup	NP_001308937.1:p.Lys668Ter
NM_001322009.2:c.1947dup	NP_001308938.1:p.Lys650Ter
NM_001322010.2:c.1758dup	NP_001308939.1:p.Lys587Ter
NM_001322011.2:c.1386dup	NP_001308940.1:p.Lys463Ter
NM_001322012.2:c.1386dup	NP_001308941.1:p.Lys463Ter
NM_001322013.2:c.1746dup	NP_001308942.1:p.Lys583Ter
NM_001322014.2:c.2352dup	NP_001308943.1:p.Lys785Ter
NM_001322015.2:c.2010dup	NP_001308944.1:p.Lys671Ter
NM_001322007.2:c.2001dup	NP_001308936.1:p.Lys668Ter