Canonical Allele Identifier: CA5950404

Gene: RAG2 RAG1

Linked Data

• ClinVar Variation Id: 440231
• ClinVar RCV Id: RCV001579122 ; RCV001653875 ; RCV002282190 ; RCV003925510
• dbSNP Id: rs145614809
• ExAC: 11:36614215 T / C
• gnomAD v2: 11-36614215-T-C
• gnomAD v3: 11-36592665-T-C
• gnomAD v4: 11-36592665-T-C
• MyVariant Identifiers: chr11:g.36614215T>C (hg19) ; chr11:g.36592665T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592665T>C , CM000673.2:g.36592665T>C	GRCh38
NC_000011.9:g.36614215T>C , CM000673.1:g.36614215T>C	GRCh37
NC_000011.8:g.36570791T>C	NCBI36
NG_007573.1:g.10572A>G , LRG_99:g.10572A>G
NG_033154.1:g.3173T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527033.6:c.1504A>G (RAG2)	ENSP00000436895.2:p.Met502Val
ENST00000529083.2:c.1504A>G (RAG2)	ENSP00000436327.2:p.Met502Val
ENST00000532616.2:c.1504A>G (RAG2)	ENSP00000432174.2:p.Met502Val
ENST00000311485.8:c.1504A>G (RAG2) MANE Select	ENSP00000308620.4:p.Met502Val
ENST00000311485.7:c.1504A>G (RAG2)	ENSP00000308620.3:p.Met502Val
ENST00000524423.1:n.131+5437A>G (RAG2)
ENST00000534663.1:c.*86-302T>C (RAG1)	ENSP00000434610.1:n.*86-302T>C
ENST00000618712.4:c.1504A>G (RAG2)	ENSP00000478672.1:p.Met502Val
NM_000536.3:c.1504A>G (RAG2)	NP_000527.2:p.Met502Val
NM_001243785.1:c.1504A>G (RAG2)	NP_001230714.1:p.Met502Val
NM_001243786.1:c.1504A>G (RAG2)	NP_001230715.1:p.Met502Val
NM_000536.4:c.1504A>G (RAG2) MANE Select	NP_000527.2:p.Met502Val
NM_001243785.2:c.1504A>G (RAG2)	NP_001230714.1:p.Met502Val
NM_001243786.2:c.1504A>G (RAG2)	NP_001230715.1:p.Met502Val