Canonical Allele Identifier: CA2573146309

Gene: RAG2

Linked Data

• ClinVar Variation Id: 1441601
• ClinVar RCV Id: RCV001950680
• dbSNP Id: rs2133313716

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593427del , CM000673.2:g.36593427del	GRCh38
NC_000011.9:g.36614977del , CM000673.1:g.36614977del	GRCh37
NC_000011.8:g.36571553del	NCBI36
NG_007573.1:g.9811del , LRG_99:g.9811del
NG_033154.1:g.3935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.743del	ENSP00000436895.2:p.Asn248IlefsTer16
ENST00000529083.2:c.743del	ENSP00000436327.2:p.Asn248IlefsTer16
ENST00000532616.2:c.743del	ENSP00000432174.2:p.Asn248IlefsTer16
ENST00000311485.8:c.743del MANE Select	ENSP00000308620.4:p.Asn248IlefsTer16
ENST00000311485.7:c.743del	ENSP00000308620.3:p.Asn248IlefsTer16
ENST00000524423.1:n.131+4676del
ENST00000618712.4:c.743del	ENSP00000478672.1:p.Asn248IlefsTer16
NM_000536.3:c.743del	NP_000527.2:p.Asn248IlefsTer16
NM_001243785.1:c.743del	NP_001230714.1:p.Asn248IlefsTer16
NM_001243786.1:c.743del	NP_001230715.1:p.Asn248IlefsTer16
NM_000536.4:c.743del MANE Select	NP_000527.2:p.Asn248IlefsTer16
NM_001243785.2:c.743del	NP_001230714.1:p.Asn248IlefsTer16
NM_001243786.2:c.743del	NP_001230715.1:p.Asn248IlefsTer16