Canonical Allele Identifier: CA153227329

Gene: PMS2

Linked Data

• dbSNP Id: rs866993953
• MyVariant Identifiers: chr7:g.6026389del (hg19) ; chr7:g.5986758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986759del , CM000669.2:g.5986759del	GRCh38
NC_000007.13:g.6026390del , CM000669.1:g.6026390del	GRCh37
NC_000007.12:g.5992916del	NCBI36
NG_008466.1:g.27349del , LRG_161:g.27349del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1402+1del
ENST00000699840.2:c.2003+1del
ENST00000699930.2:c.1898+1del
ENST00000406569.8:c.1678+329del	ENSP00000514464.1:n.1678+329del
ENST00000644110.2:c.*1600+1del
ENST00000699752.1:c.1850+1del
ENST00000699753.1:c.*1427+1del
ENST00000699754.1:c.1808+1del
ENST00000699755.1:c.*1405+1del
ENST00000699756.1:c.*1593+1del
ENST00000699757.1:c.*1263+1del
ENST00000699758.1:c.*1263+1del
ENST00000699759.1:n.2860+1del
ENST00000699760.1:c.1688+1del
ENST00000699761.1:c.1601+1del
ENST00000699762.1:c.1433+1del
ENST00000699763.1:c.*1096+1del
ENST00000699764.1:c.*324+1del
ENST00000699765.1:c.*1102+1del
ENST00000699766.1:c.2006+1del
ENST00000699767.1:c.2006+1del
ENST00000699768.1:c.2006+1del
ENST00000699811.1:c.1601+1del
ENST00000699813.1:n.2119+1del
ENST00000699814.1:c.1629+1del
ENST00000699815.1:c.*1537+1del
ENST00000699816.1:c.*896+1del
ENST00000699817.1:c.*1600+1del
ENST00000699818.1:c.1601+1del
ENST00000699819.1:c.*1163+1del
ENST00000699820.1:c.1144+3042del	ENSP00000514621.1:n.1144+3042del
ENST00000699821.1:c.1601+1del
ENST00000699822.1:c.*1458+1del
ENST00000699823.1:c.1601+1del
ENST00000699824.1:c.*1509+1del
ENST00000699825.1:c.1445+1del
ENST00000699826.1:c.*1405+1del
ENST00000699827.1:c.1838+1del
ENST00000699828.1:c.*1096+1del
ENST00000699833.1:n.3778+1del
ENST00000699837.1:c.1601+1del
ENST00000699838.1:c.*1906+1del
ENST00000699839.1:c.2192+1del
ENST00000699916.1:c.*1263+1del
ENST00000699917.1:c.*1455+1del
ENST00000699918.1:c.*1507+1del
ENST00000699919.1:c.*1593+1del
ENST00000699920.1:c.*1642+1del
ENST00000699928.1:c.989-3767del	ENSP00000514693.1:n.989-3767del
ENST00000699951.1:c.*1102+1del
ENST00000699952.1:c.803+10568del	ENSP00000514707.1:n.803+10568del
ENST00000265849.12:c.2006+1del
ENST00000642292.1:c.1601+1del
ENST00000642456.1:c.1601+1del
ENST00000643595.1:c.*1405+1del
ENST00000644110.1:c.1688+1del
ENST00000265849.11:c.2006+1del
ENST00000382321.5:c.804-3767del	ENSP00000371758.4:n.804-3767del
ENST00000406569.7:n.1678+329del
ENST00000441476.6:c.1688+1del
ENST00000469652.1:n.63-3853del
NM_000535.5:c.2006+1del , LRG_161t1:c.2006+1del
NR_003085.2:n.2088+1del
XM_006715742.2:c.2000+1del
XM_006715744.2:c.1073+1del
XM_011515427.1:c.2051+1del
XM_011515428.1:c.1895+1del
XM_011515429.1:c.1688+1del
XM_011515430.1:c.1688+1del
NM_000535.6:c.2006+1del
NM_001322003.1:c.1601+1del
NM_001322004.1:c.1601+1del
NM_001322005.1:c.1601+1del
NM_001322006.1:c.1850+1del
NM_001322007.1:c.1688+1del
NM_001322008.1:c.1688+1del
NM_001322009.1:c.1601+1del
NM_001322010.1:c.1445+1del
NM_001322011.1:c.1073+1del
NM_001322012.1:c.1073+1del
NM_001322013.1:c.1433+1del
NM_001322014.1:c.2006+1del
NM_001322015.1:c.1697+1del
NR_136154.1:n.2093+1del
XM_006715744.4:c.1073+1del
XM_017012342.2:c.1073+1del
XM_024446800.1:c.1445+1del
NM_000535.7:c.2006+1del
NM_001322003.2:c.1601+1del
NM_001322004.2:c.1601+1del
NM_001322005.2:c.1601+1del
NM_001322006.2:c.1850+1del
NM_001322008.2:c.1688+1del
NM_001322009.2:c.1601+1del
NM_001322010.2:c.1445+1del
NM_001322011.2:c.1073+1del
NM_001322012.2:c.1073+1del
NM_001322013.2:c.1433+1del
NM_001322014.2:c.2006+1del
NM_001322015.2:c.1697+1del
NM_001322007.2:c.1688+1del