Canonical Allele Identifier: CA122859
Gene: RAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13132
ClinVar RCV Id: RCV000014013 RCV000681589
dbSNP Id: rs121917896
MyVariant Identifiers: chr11:g.36614865A>C (hg19) chr11:g.36593315A>C (hg38)
PubMed: PMID:9630231
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593315A>C , CM000673.2:g.36593315A>C GRCh38
NC_000011.9:g.36614865A>C , CM000673.1:g.36614865A>C GRCh37
NC_000011.8:g.36571441A>C NCBI36
NG_007573.1:g.9922T>G , LRG_99:g.9922T>G
NG_033154.1:g.3823A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000527033.6:c.854T>G ENSP00000436895.2:p.Met285Arg
ENST00000529083.2:c.854T>G ENSP00000436327.2:p.Met285Arg
ENST00000532616.2:c.854T>G ENSP00000432174.2:p.Met285Arg
ENST00000311485.8:c.854T>G MANE Select ENSP00000308620.4:p.Met285Arg
ENST00000311485.7:c.854T>G ENSP00000308620.3:p.Met285Arg
ENST00000524423.1:n.131+4787T>G
ENST00000618712.4:c.854T>G ENSP00000478672.1:p.Met285Arg
NM_000536.3:c.854T>G NP_000527.2:p.Met285Arg
NM_001243785.1:c.854T>G NP_001230714.1:p.Met285Arg
NM_001243786.1:c.854T>G NP_001230715.1:p.Met285Arg
NM_000536.4:c.854T>G MANE Select NP_000527.2:p.Met285Arg
NM_001243785.2:c.854T>G NP_001230714.1:p.Met285Arg
NM_001243786.2:c.854T>G NP_001230715.1:p.Met285Arg
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