Canonical Allele Identifier: CA380142173

Gene: RAG2

Linked Data

• ClinVar Variation Id: 496625
• ClinVar RCV Id: RCV000681588
• dbSNP Id: rs1564996700
• MyVariant Identifiers: chr11:g.36614961G>C (hg19) ; chr11:g.36593411G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593411G>C , CM000673.2:g.36593411G>C	GRCh38
NC_000011.9:g.36614961G>C , CM000673.1:g.36614961G>C	GRCh37
NC_000011.8:g.36571537G>C	NCBI36
NG_007573.1:g.9826C>G , LRG_99:g.9826C>G
NG_033154.1:g.3919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.758C>G	ENSP00000436895.2:p.Pro253Arg
ENST00000529083.2:c.758C>G	ENSP00000436327.2:p.Pro253Arg
ENST00000532616.2:c.758C>G	ENSP00000432174.2:p.Pro253Arg
ENST00000311485.8:c.758C>G MANE Select	ENSP00000308620.4:p.Pro253Arg
ENST00000311485.7:c.758C>G	ENSP00000308620.3:p.Pro253Arg
ENST00000524423.1:n.131+4691C>G
ENST00000618712.4:c.758C>G	ENSP00000478672.1:p.Pro253Arg
NM_000536.3:c.758C>G	NP_000527.2:p.Pro253Arg
NM_001243785.1:c.758C>G	NP_001230714.1:p.Pro253Arg
NM_001243786.1:c.758C>G	NP_001230715.1:p.Pro253Arg
NM_000536.4:c.758C>G MANE Select	NP_000527.2:p.Pro253Arg
NM_001243785.2:c.758C>G	NP_001230714.1:p.Pro253Arg
NM_001243786.2:c.758C>G	NP_001230715.1:p.Pro253Arg