Canonical Allele Identifier: CA293055
Gene: RAG2 HGNC NCBI
ClinVar Variation:
COSMIC:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36594147C>T , CM000673.2:g.36594147C>T GRCh38
NC_000011.9:g.36615697C>T , CM000673.1:g.36615697C>T GRCh37
NC_000011.8:g.36572273C>T NCBI36
NG_007573.1:g.9090G>A , LRG_99:g.9090G>A
NG_033154.1:g.4655C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.22G>A ENSP00000436895.2:p.Val8Ile
ENST00000529083.2:c.22G>A ENSP00000436327.2:p.Val8Ile
ENST00000532616.2:c.22G>A ENSP00000432174.2:p.Val8Ile
ENST00000311485.8:c.22G>A MANE Select ENSP00000308620.4:p.Val8Ile
ENST00000311485.7:c.22G>A ENSP00000308620.3:p.Val8Ile
ENST00000524423.1:n.131+3955G>A
ENST00000527033.5:c.22G>A ENSP00000436895.1:p.Val8Ile
ENST00000529083.1:c.22G>A ENSP00000436327.1:p.Val8Ile
ENST00000618712.4:c.22G>A ENSP00000478672.1:p.Val8Ile
NM_000536.3:c.22G>A NP_000527.2:p.Val8Ile
NM_001243785.1:c.22G>A NP_001230714.1:p.Val8Ile
NM_001243786.1:c.22G>A NP_001230715.1:p.Val8Ile
NM_000536.4:c.22G>A MANE Select NP_000527.2:p.Val8Ile
NM_001243785.2:c.22G>A NP_001230714.1:p.Val8Ile
NM_001243786.2:c.22G>A NP_001230715.1:p.Val8Ile