Canonical Allele Identifier: CA2499220940

Gene: RAG2

Linked Data

• ClinVar Variation Id: 1068713
• ClinVar RCV Id: RCV001380349 ; RCV003473924
• 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