Canonical Allele Identifier: CA380140542
Gene: RAG2 HGNC NCBI
RAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496630
ClinVar RCV Id: RCV000681598 RCV001389163 RCV001834861 RCV003403379
dbSNP Id: rs1564995627
gnomAD v4: 11-36592812-A-T
MyVariant Identifiers: chr11:g.36614362A>T (hg19) chr11:g.36592812A>T (hg38)
ERepo: CA380140542/MONDO:0000573/124
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36592812A>T , CM000673.2:g.36592812A>T GRCh38
NC_000011.9:g.36614362A>T , CM000673.1:g.36614362A>T GRCh37
NC_000011.8:g.36570938A>T NCBI36
NG_007573.1:g.10425T>A , LRG_99:g.10425T>A
NG_033154.1:g.3320A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.1357T>A (RAG2) ENSP00000436895.2:p.Trp453Arg
ENST00000529083.2:c.1357T>A (RAG2) ENSP00000436327.2:p.Trp453Arg
ENST00000532616.2:c.1357T>A (RAG2) ENSP00000432174.2:p.Trp453Arg
ENST00000311485.8:c.1357T>A (RAG2) MANE Select ENSP00000308620.4:p.Trp453Arg
ENST00000311485.7:c.1357T>A (RAG2) ENSP00000308620.3:p.Trp453Arg
ENST00000524423.1:n.131+5290T>A (RAG2)
ENST00000534663.1:c.*86-155A>T (RAG1) ENSP00000434610.1:n.*86-155A>T
ENST00000618712.4:c.1357T>A (RAG2) ENSP00000478672.1:p.Trp453Arg
NM_000536.3:c.1357T>A (RAG2) NP_000527.2:p.Trp453Arg
NM_001243785.1:c.1357T>A (RAG2) NP_001230714.1:p.Trp453Arg
NM_001243786.1:c.1357T>A (RAG2) NP_001230715.1:p.Trp453Arg
NM_000536.4:c.1357T>A (RAG2) MANE Select NP_000527.2:p.Trp453Arg
NM_001243785.2:c.1357T>A (RAG2) NP_001230714.1:p.Trp453Arg
NM_001243786.2:c.1357T>A (RAG2) NP_001230715.1:p.Trp453Arg
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