Canonical Allele Identifier: CA16040597
Gene: PMS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9243
ClinVar RCV Id: RCV000009824
dbSNP Id: rs1057515571

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5995592del , CM000669.2:g.5995592del GRCh38
NC_000007.13:g.6035223del , CM000669.1:g.6035223del GRCh37
NC_000007.12:g.6001749del NCBI36
NG_008466.1:g.18516del , LRG_161:g.18516del

Transcript Alleles

HGVS Amino-acid change
NM_000535.5:c.846del , LRG_161t1:c.846del NP_000526.1:p.Ser283ValfsTer24
NR_003085.2:n.928del
XM_006715742.2:c.840del XP_006715805.1:p.Ser281ValfsTer24
XM_011515427.1:c.891del XP_011513729.1:p.Ser298ValfsTer24
XM_011515428.1:c.891del XP_011513730.1:p.Ser298ValfsTer24
XM_011515429.1:c.528del XP_011513731.1:p.Ser177ValfsTer24
XM_011515430.1:c.528del XP_011513732.1:p.Ser177ValfsTer24
NM_000535.6:c.846del VV NP_000526.2:p.Ser283ValfsTer24
NM_001322003.1:c.441del VV NP_001308932.1:p.Ser148ValfsTer24
NM_001322004.1:c.441del VV NP_001308933.1:p.Ser148ValfsTer24
NM_001322005.1:c.441del VV NP_001308934.1:p.Ser148ValfsTer24
NM_001322006.1:c.846del VV NP_001308935.1:p.Ser283ValfsTer24
NM_001322007.1:c.528del VV NP_001308936.1:p.Ser177ValfsTer24
NM_001322008.1:c.528del VV NP_001308937.1:p.Ser177ValfsTer24
NM_001322009.1:c.441del VV NP_001308938.1:p.Ser148ValfsTer24
NM_001322010.1:c.441del VV NP_001308939.1:p.Ser148ValfsTer24
NM_001322011.1:c.-88del VV NP_001308940.1:p.=
NM_001322012.1:c.-88del VV NP_001308941.1:p.=
NM_001322013.1:c.273del VV NP_001308942.1:p.Ser92ValfsTer24
NM_001322014.1:c.846del VV NP_001308943.1:p.Ser283ValfsTer24
NM_001322015.1:c.537del VV NP_001308944.1:p.Ser180ValfsTer24
NR_136154.1:n.933del
XM_017012342.2:c.-31+1735del XP_016867831.1:p.=
XM_024446800.1:c.441del XP_024302568.1:p.Ser148ValfsTer24
NM_000535.7:c.846del VV MANE Preferred NP_000526.2:p.Ser283ValfsTer24
ENST00000265849.11:c.846del ENSP00000265849.7:p.Ser283ValfsTer24
ENST00000382321.5:n.803+1735del ENSP00000371758.4:p.=
ENST00000406569.7:n.846del
ENST00000441476.6:c.528del ENSP00000392843.2:p.Ser177ValfsTer24
ENST00000469652.1:n.62+10402del