Canonical Allele Identifier: CA358701

Gene: PMS2

Linked Data

• ClinVar Variation Id: 192316
• ClinVar RCV Id: RCV000172908 ; RCV000630142 ; RCV001284205 ; RCV001179765 ; RCV001804905 ; RCV003454446
• dbSNP Id: rs869320619
• MyVariant Identifiers: chr7:g.6026394T>C (hg19) ; chr7:g.5986763T>C (hg38)
• PubMed: PMID:25691505

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986763T>C , CM000669.2:g.5986763T>C	GRCh38
NC_000007.13:g.6026394T>C , CM000669.1:g.6026394T>C	GRCh37
NC_000007.12:g.5992920T>C	NCBI36
NG_008466.1:g.27344A>G , LRG_161:g.27344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1398A>G	ENSP00000514615.2:n.*1398A>G
ENST00000699840.2:c.1999A>G	ENSP00000514638.2:p.Ile667Val
ENST00000699930.2:c.1894A>G	ENSP00000514695.2:p.Ile632Val
ENST00000406569.8:c.1678+324A>G	ENSP00000514464.1:n.1678+324A>G
ENST00000644110.2:c.*1596A>G	ENSP00000496392.2:n.*1596A>G
ENST00000699752.1:c.1846A>G	ENSP00000514561.1:p.Ile616Val
ENST00000699753.1:c.*1423A>G	ENSP00000514562.1:n.*1423A>G
ENST00000699754.1:c.1804A>G	ENSP00000514563.1:p.Ile602Val
ENST00000699755.1:c.*1401A>G	ENSP00000514564.1:n.*1401A>G
ENST00000699756.1:c.*1589A>G	ENSP00000514565.1:n.*1589A>G
ENST00000699757.1:c.*1259A>G	ENSP00000514566.1:n.*1259A>G
ENST00000699758.1:c.*1259A>G	ENSP00000514567.1:n.*1259A>G
ENST00000699759.1:n.2856A>G
ENST00000699760.1:c.1684A>G	ENSP00000514568.1:p.Ile562Val
ENST00000699761.1:c.1597A>G	ENSP00000514569.1:p.Ile533Val
ENST00000699762.1:c.1429A>G	ENSP00000514570.1:p.Ile477Val
ENST00000699763.1:c.*1092A>G	ENSP00000514571.1:n.*1092A>G
ENST00000699764.1:c.*320A>G	ENSP00000514572.1:n.*320A>G
ENST00000699765.1:c.*1098A>G	ENSP00000514573.1:n.*1098A>G
ENST00000699766.1:c.2002A>G	ENSP00000514574.1:p.Ile668Val
ENST00000699767.1:c.2002A>G	ENSP00000514575.1:p.Ile668Val
ENST00000699768.1:c.2002A>G	ENSP00000514576.1:p.Ile668Val
ENST00000699811.1:c.1597A>G	ENSP00000514614.1:p.Ile533Val
ENST00000699813.1:n.2115A>G
ENST00000699814.1:c.1625A>G
ENST00000699815.1:c.*1533A>G	ENSP00000514616.1:n.*1533A>G
ENST00000699816.1:c.*892A>G	ENSP00000514617.1:n.*892A>G
ENST00000699817.1:c.*1596A>G	ENSP00000514618.1:n.*1596A>G
ENST00000699818.1:c.1597A>G	ENSP00000514619.1:p.Ile533Val
ENST00000699819.1:c.*1159A>G	ENSP00000514620.1:n.*1159A>G
ENST00000699820.1:c.1144+3037A>G	ENSP00000514621.1:n.1144+3037A>G
ENST00000699821.1:c.1597A>G	ENSP00000514622.1:p.Ile533Val
ENST00000699822.1:c.*1454A>G	ENSP00000514623.1:n.*1454A>G
ENST00000699823.1:c.1597A>G	ENSP00000514624.1:p.Ile533Val
ENST00000699824.1:c.*1505A>G	ENSP00000514625.1:n.*1505A>G
ENST00000699825.1:c.1441A>G	ENSP00000514626.1:p.Ile481Val
ENST00000699826.1:c.*1401A>G	ENSP00000514627.1:n.*1401A>G
ENST00000699827.1:c.1834A>G	ENSP00000514628.1:p.Ile612Val
ENST00000699828.1:c.*1092A>G	ENSP00000514629.1:n.*1092A>G
ENST00000699833.1:n.3774A>G
ENST00000699837.1:c.1597A>G	ENSP00000514635.1:p.Ile533Val
ENST00000699838.1:c.*1902A>G	ENSP00000514636.1:n.*1902A>G
ENST00000699839.1:c.2188A>G	ENSP00000514637.1:p.Ile730Val
ENST00000699916.1:c.*1259A>G	ENSP00000514684.1:n.*1259A>G
ENST00000699917.1:c.*1451A>G	ENSP00000514685.1:n.*1451A>G
ENST00000699918.1:c.*1503A>G	ENSP00000514686.1:n.*1503A>G
ENST00000699919.1:c.*1589A>G	ENSP00000514687.1:n.*1589A>G
ENST00000699920.1:c.*1638A>G	ENSP00000514688.1:n.*1638A>G
ENST00000699928.1:c.989-3772A>G	ENSP00000514693.1:n.989-3772A>G
ENST00000699951.1:c.*1098A>G	ENSP00000514706.1:n.*1098A>G
ENST00000699952.1:c.803+10563A>G	ENSP00000514707.1:n.803+10563A>G
ENST00000265849.12:c.2002A>G MANE Select	ENSP00000265849.7:p.Ile668Val
ENST00000642292.1:c.1597A>G	ENSP00000495524.1:p.Ile533Val
ENST00000642456.1:c.1597A>G	ENSP00000493814.1:p.Ile533Val
ENST00000643595.1:c.*1401A>G	ENSP00000494497.1:n.*1401A>G
ENST00000644110.1:c.1684A>G	ENSP00000496392.1:p.Ile562Val
ENST00000265849.11:c.2002A>G	ENSP00000265849.7:p.Ile668Val
ENST00000382321.5:c.804-3772A>G	ENSP00000371758.4:n.804-3772A>G
ENST00000406569.7:n.1678+324A>G
ENST00000441476.6:c.1684A>G	ENSP00000392843.2:p.Ile562Val
ENST00000469652.1:n.63-3858A>G
NM_000535.5:c.2002A>G , LRG_161t1:c.2002A>G	NP_000526.1:p.Ile668Val
NR_003085.2:n.2084A>G
XM_006715742.2:c.1996A>G	XP_006715805.1:p.Ile666Val
XM_006715744.2:c.1069A>G	XP_006715807.1:p.Ile357Val
XM_011515427.1:c.2047A>G	XP_011513729.1:p.Ile683Val
XM_011515428.1:c.1891A>G	XP_011513730.1:p.Ile631Val
XM_011515429.1:c.1684A>G	XP_011513731.1:p.Ile562Val
XM_011515430.1:c.1684A>G	XP_011513732.1:p.Ile562Val
NM_000535.6:c.2002A>G	NP_000526.2:p.Ile668Val
NM_001322003.1:c.1597A>G	NP_001308932.1:p.Ile533Val
NM_001322004.1:c.1597A>G	NP_001308933.1:p.Ile533Val
NM_001322005.1:c.1597A>G	NP_001308934.1:p.Ile533Val
NM_001322006.1:c.1846A>G	NP_001308935.1:p.Ile616Val
NM_001322007.1:c.1684A>G	NP_001308936.1:p.Ile562Val
NM_001322008.1:c.1684A>G	NP_001308937.1:p.Ile562Val
NM_001322009.1:c.1597A>G	NP_001308938.1:p.Ile533Val
NM_001322010.1:c.1441A>G	NP_001308939.1:p.Ile481Val
NM_001322011.1:c.1069A>G	NP_001308940.1:p.Ile357Val
NM_001322012.1:c.1069A>G	NP_001308941.1:p.Ile357Val
NM_001322013.1:c.1429A>G	NP_001308942.1:p.Ile477Val
NM_001322014.1:c.2002A>G	NP_001308943.1:p.Ile668Val
NM_001322015.1:c.1693A>G	NP_001308944.1:p.Ile565Val
NR_136154.1:n.2089A>G
XM_006715744.4:c.1069A>G	XP_006715807.1:p.Ile357Val
XM_017012342.2:c.1069A>G	XP_016867831.1:p.Ile357Val
XM_024446800.1:c.1441A>G	XP_024302568.1:p.Ile481Val
NM_000535.7:c.2002A>G MANE Select	NP_000526.2:p.Ile668Val
NM_001322003.2:c.1597A>G	NP_001308932.1:p.Ile533Val
NM_001322004.2:c.1597A>G	NP_001308933.1:p.Ile533Val
NM_001322005.2:c.1597A>G	NP_001308934.1:p.Ile533Val
NM_001322006.2:c.1846A>G	NP_001308935.1:p.Ile616Val
NM_001322008.2:c.1684A>G	NP_001308937.1:p.Ile562Val
NM_001322009.2:c.1597A>G	NP_001308938.1:p.Ile533Val
NM_001322010.2:c.1441A>G	NP_001308939.1:p.Ile481Val
NM_001322011.2:c.1069A>G	NP_001308940.1:p.Ile357Val
NM_001322012.2:c.1069A>G	NP_001308941.1:p.Ile357Val
NM_001322013.2:c.1429A>G	NP_001308942.1:p.Ile477Val
NM_001322014.2:c.2002A>G	NP_001308943.1:p.Ile668Val
NM_001322015.2:c.1693A>G	NP_001308944.1:p.Ile565Val
NM_001322007.2:c.1684A>G	NP_001308936.1:p.Ile562Val