Canonical Allele Identifier: CA009383
Gene: PMS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 91298
dbSNP Id: rs267608159

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987531_5987533del , CM000669.2:g.5987531_5987533del GRCh38
NC_000007.12:g.5993688_5993690del NCBI36
NC_000007.13:g.6027162_6027164del , CM000669.1:g.6027162_6027164del GRCh37
NG_008466.1:g.26579_26581del , LRG_161:g.26579_26581del

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.11:c.1237_1239del ENSP00000265849.7:p.Lys413del
ENST00000382321.5:n.804-4537_804-4535del ENSP00000371758.4:p.=
ENST00000406569.7:n.1237_1239del
ENST00000441476.6:c.919_921del ENSP00000392843.2:p.Lys307del
ENST00000469652.1:n.63-4623_63-4621del
NM_000535.5:c.1237_1239del , LRG_161t1:c.1237_1239del NP_000526.1:p.Lys413del
NR_003085.2:n.1319_1321del
XM_006715742.2:c.1231_1233del XP_006715805.1:p.Lys411del
XM_006715744.2:c.304_306del XP_006715807.1:p.Lys102del
XM_011515427.1:c.1282_1284del XP_011513729.1:p.Lys428del
XM_011515428.1:c.1126_1128del XP_011513730.1:p.Lys376del
XM_011515429.1:c.919_921del XP_011513731.1:p.Lys307del
XM_011515430.1:c.919_921del XP_011513732.1:p.Lys307del