Canonical Allele Identifier: CA2499220940
Gene: RAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1068713
dbSNP Id: rs2133313784

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593448dup , CM000673.2:g.36593448dup GRCh38
NC_000011.9:g.36614998dup , CM000673.1:g.36614998dup GRCh37
NC_000011.8:g.36571574dup NCBI36
NG_007573.1:g.9792dup , LRG_99:g.9792dup
NG_033154.1:g.3956dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.724dup ENSP00000436895.2:p.Leu242ProfsTer3
ENST00000529083.2:c.724dup ENSP00000436327.2:p.Leu242ProfsTer3
ENST00000532616.2:c.724dup ENSP00000432174.2:p.Leu242ProfsTer3
ENST00000311485.8:c.724dup MANE Select ENSP00000308620.4:p.Leu242ProfsTer3
ENST00000311485.7:c.724dup ENSP00000308620.3:p.Leu242ProfsTer3
ENST00000524423.1:n.131+4657dup
ENST00000618712.4:c.724dup ENSP00000478672.1:p.Leu242ProfsTer3
NM_000536.3:c.724dup NP_000527.2:p.Leu242ProfsTer3
NM_001243785.1:c.724dup NP_001230714.1:p.Leu242ProfsTer3
NM_001243786.1:c.724dup NP_001230715.1:p.Leu242ProfsTer3
NM_000536.4:c.724dup MANE Select NP_000527.2:p.Leu242ProfsTer3
NM_001243785.2:c.724dup NP_001230714.1:p.Leu242ProfsTer3
NM_001243786.2:c.724dup NP_001230715.1:p.Leu242ProfsTer3