Canonical Allele Identifier: CA5950544
Gene: RAG2 HGNC NCBI

Linked Data

dbSNP Id: rs763291155

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593487T>C , CM000673.2:g.36593487T>C GRCh38
NC_000011.9:g.36615037T>C , CM000673.1:g.36615037T>C GRCh37
NC_000011.8:g.36571613T>C NCBI36
NG_007573.1:g.9750A>G , LRG_99:g.9750A>G
NG_033154.1:g.3995T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.682A>G ENSP00000436895.2:p.Ile228Val
ENST00000529083.2:c.682A>G ENSP00000436327.2:p.Ile228Val
ENST00000532616.2:c.682A>G ENSP00000432174.2:p.Ile228Val
ENST00000311485.8:c.682A>G MANE Select ENSP00000308620.4:p.Ile228Val
ENST00000311485.7:c.682A>G ENSP00000308620.3:p.Ile228Val
ENST00000524423.1:n.131+4615A>G
ENST00000618712.4:c.682A>G ENSP00000478672.1:p.Ile228Val
NM_000536.3:c.682A>G NP_000527.2:p.Ile228Val
NM_001243785.1:c.682A>G NP_001230714.1:p.Ile228Val
NM_001243786.1:c.682A>G NP_001230715.1:p.Ile228Val
NM_000536.4:c.682A>G MANE Select NP_000527.2:p.Ile228Val
NM_001243785.2:c.682A>G NP_001230714.1:p.Ile228Val
NM_001243786.2:c.682A>G NP_001230715.1:p.Ile228Val