Canonical Allele Identifier: CA380142296
Gene: RAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2618577
ClinVar RCV Id: RCV003386338

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593469A>G , CM000673.2:g.36593469A>G GRCh38
NC_000011.9:g.36615019A>G , CM000673.1:g.36615019A>G GRCh37
NC_000011.8:g.36571595A>G NCBI36
NG_007573.1:g.9768T>C , LRG_99:g.9768T>C
NG_033154.1:g.3977A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.700T>C ENSP00000436895.2:p.Tyr234His
ENST00000529083.2:c.700T>C ENSP00000436327.2:p.Tyr234His
ENST00000532616.2:c.700T>C ENSP00000432174.2:p.Tyr234His
ENST00000311485.8:c.700T>C MANE Select ENSP00000308620.4:p.Tyr234His
ENST00000311485.7:c.700T>C ENSP00000308620.3:p.Tyr234His
ENST00000524423.1:n.131+4633T>C
ENST00000618712.4:c.700T>C ENSP00000478672.1:p.Tyr234His
NM_000536.3:c.700T>C NP_000527.2:p.Tyr234His
NM_001243785.1:c.700T>C NP_001230714.1:p.Tyr234His
NM_001243786.1:c.700T>C NP_001230715.1:p.Tyr234His
NM_000536.4:c.700T>C MANE Select NP_000527.2:p.Tyr234His
NM_001243785.2:c.700T>C NP_001230714.1:p.Tyr234His
NM_001243786.2:c.700T>C NP_001230715.1:p.Tyr234His