Canonical Allele Identifier: CA331766
Gene: PMS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 91360
ClinVar RCV Id: RCV000076878
dbSNP Id: rs267608148

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5999220dup , CM000669.2:g.5999220dup GRCh38
NC_000007.13:g.6038851dup , CM000669.1:g.6038851dup GRCh37
NC_000007.12:g.6005377dup NCBI36
NG_008466.1:g.14887dup , LRG_161:g.14887dup

Transcript Alleles

HGVS Amino-acid change
NM_000535.5:c.593dup , LRG_161t1:c.593dup NP_000526.1:p.Arg199ProfsTer?
NR_003085.2:n.675dup
XM_006715742.2:c.587dup XP_006715805.1:p.Arg197ProfsTer?
XM_011515427.1:c.638dup XP_011513729.1:p.Arg214ProfsTer?
XM_011515428.1:c.638dup XP_011513730.1:p.Arg214ProfsTer?
XM_011515429.1:c.275dup XP_011513731.1:p.Arg93ProfsTer?
XM_011515430.1:c.275dup XP_011513732.1:p.Arg93ProfsTer?
NM_000535.6:c.593dup VV NP_000526.2:p.Arg199ProfsTer?
NM_001322003.1:c.188dup VV NP_001308932.1:p.Arg64ProfsTer?
NM_001322004.1:c.188dup VV NP_001308933.1:p.Arg64ProfsTer?
NM_001322005.1:c.188dup VV NP_001308934.1:p.Arg64ProfsTer?
NM_001322006.1:c.593dup VV NP_001308935.1:p.Arg199ProfsTer?
NM_001322007.1:c.275dup VV NP_001308936.1:p.Arg93ProfsTer?
NM_001322008.1:c.275dup VV NP_001308937.1:p.Arg93ProfsTer?
NM_001322009.1:c.188dup VV NP_001308938.1:p.Arg64ProfsTer?
NM_001322010.1:c.188dup VV NP_001308939.1:p.Arg64ProfsTer?
NM_001322011.1:c.-341dup VV NP_001308940.1:p.=
NM_001322012.1:c.-341dup VV NP_001308941.1:p.=
NM_001322013.1:c.133-1797dup VV NP_001308942.1:p.=
NM_001322014.1:c.593dup VV NP_001308943.1:p.Arg199ProfsTer?
NM_001322015.1:c.284dup VV NP_001308944.1:p.Arg96ProfsTer?
NR_136154.1:n.680dup
XM_017012342.2:c.-241dup XP_016867831.1:p.=
XM_024446800.1:c.188dup XP_024302568.1:p.Arg64ProfsTer?
NM_000535.7:c.593dup VV MANE Preferred NP_000526.2:p.Arg199ProfsTer?
ENST00000265849.11:c.593dup ENSP00000265849.7:p.Arg199ProfsTer?
ENST00000382321.5:n.593dup ENSP00000371758.4:p.Arg199ProfsTer?
ENST00000406569.7:n.593dup
ENST00000441476.6:c.275dup ENSP00000392843.2:p.Arg93ProfsTer?
ENST00000469652.1:n.62+6773dup