Canonical Allele Identifier: CA16618545
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419857
ClinVar RCV Id: RCV000483540
dbSNP Id: rs1064794152

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6005939del , CM000669.2:g.6005939del GRCh38
NC_000007.13:g.6045570del , CM000669.1:g.6045570del GRCh37
NC_000007.12:g.6012096del NCBI36
NG_008466.1:g.8168del , LRG_161:g.8168del
NG_050738.1:g.1689del

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.12:c.116del MANE Select ENSP00000265849.7:p.Val39GlufsTer4
ENST00000642292.1:c.-242-1881del ENSP00000495524.1:p.=
ENST00000642456.1:c.-290del ENSP00000493814.1:p.=
ENST00000643595.1:c.116del ENSP00000494497.1:p.Val39GlufsTer4
ENST00000265849.11:c.116del ENSP00000265849.7:p.Val39GlufsTer4
ENST00000380416.5:n.195del
ENST00000382321.5:n.116del ENSP00000371758.4:p.Val39GlufsTer4
ENST00000406569.7:n.116del
ENST00000415839.2:n.128del
ENST00000441476.6:c.-100del ENSP00000392843.2:p.=
ENST00000469652.1:n.62+54del
NM_000535.5:c.116del , LRG_161t1:c.116del NP_000526.1:p.Val39GlufsTer4
NR_003085.2:n.198del
XM_006715742.2:c.110del XP_006715805.1:p.Val37GlufsTer4
XM_011515427.1:c.161del XP_011513729.1:p.Val54GlufsTer4
XM_011515428.1:c.161del XP_011513730.1:p.Val54GlufsTer4
XM_011515429.1:c.-100del XP_011513731.1:p.=
XM_011515430.1:c.-100del XP_011513732.1:p.=
NM_000535.6:c.116del NP_000526.2:p.Val39GlufsTer4
NM_001322003.1:c.-290del NP_001308932.1:p.=
NM_001322004.1:c.-242-1881del NP_001308933.1:p.=
NM_001322005.1:c.-290del NP_001308934.1:p.=
NM_001322006.1:c.116del NP_001308935.1:p.Val39GlufsTer4
NM_001322007.1:c.-100del NP_001308936.1:p.=
NM_001322008.1:c.-52-1881del NP_001308937.1:p.=
NM_001322009.1:c.-290del NP_001308938.1:p.=
NM_001322010.1:c.-242-1881del NP_001308939.1:p.=
NM_001322011.1:c.-769del NP_001308940.1:p.=
NM_001322012.1:c.-769del NP_001308941.1:p.=
NM_001322013.1:c.-290del NP_001308942.1:p.=
NM_001322014.1:c.116del NP_001308943.1:p.Val39GlufsTer4
NM_001322015.1:c.-369del NP_001308944.1:p.=
NR_136154.1:n.203del
XM_017012342.2:c.-669del XP_016867831.1:p.=
XM_024446800.1:c.-290del XP_024302568.1:p.=
NM_000535.7:c.116del MANE Select NP_000526.2:p.Val39GlufsTer4
NM_001322003.2:c.-290del NP_001308932.1:p.=
NM_001322004.2:c.-242-1881del NP_001308933.1:p.=
NM_001322005.2:c.-290del NP_001308934.1:p.=
NM_001322006.2:c.116del NP_001308935.1:p.Val39GlufsTer4
NM_001322008.2:c.-52-1881del NP_001308937.1:p.=
NM_001322009.2:c.-290del NP_001308938.1:p.=
NM_001322010.2:c.-242-1881del NP_001308939.1:p.=
NM_001322011.2:c.-769del NP_001308940.1:p.=
NM_001322012.2:c.-769del NP_001308941.1:p.=
NM_001322013.2:c.-290del NP_001308942.1:p.=
NM_001322014.2:c.116del NP_001308943.1:p.Val39GlufsTer4
NM_001322015.2:c.-369del NP_001308944.1:p.=
NM_001322007.2:c.-100del NP_001308936.1:p.=