Canonical Allele Identifier: CA2499220941

Gene: RAG2

Linked Data

• ClinVar Variation Id: 1210463
• ClinVar RCV Id: RCV001580771
• dbSNP Id: rs2133315462

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593868del , CM000673.2:g.36593868del	GRCh38
NC_000011.9:g.36615418del , CM000673.1:g.36615418del	GRCh37
NC_000011.8:g.36571994del	NCBI36
NG_007573.1:g.9370del , LRG_99:g.9370del
NG_033154.1:g.4376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.302del	ENSP00000436895.2:p.Asn101MetfsTer30
ENST00000529083.2:c.302del	ENSP00000436327.2:p.Asn101MetfsTer30
ENST00000532616.2:c.302del	ENSP00000432174.2:p.Asn101MetfsTer30
ENST00000311485.8:c.302del MANE Select	ENSP00000308620.4:p.Asn101MetfsTer30
ENST00000311485.7:c.302del	ENSP00000308620.3:p.Asn101MetfsTer30
ENST00000524423.1:n.131+4235del
ENST00000529083.1:c.302del	ENSP00000436327.1:p.Asn101MetfsTer30
ENST00000618712.4:c.302del	ENSP00000478672.1:p.Asn101MetfsTer30
NM_000536.3:c.302del	NP_000527.2:p.Asn101MetfsTer30
NM_001243785.1:c.302del	NP_001230714.1:p.Asn101MetfsTer30
NM_001243786.1:c.302del	NP_001230715.1:p.Asn101MetfsTer30
NM_000536.4:c.302del MANE Select	NP_000527.2:p.Asn101MetfsTer30
NM_001243785.2:c.302del	NP_001230714.1:p.Asn101MetfsTer30
NM_001243786.2:c.302del	NP_001230715.1:p.Asn101MetfsTer30