Canonical Allele Identifier: CA5950537
Gene: RAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 965599
dbSNP Id: rs374781438

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593451G>A , CM000673.2:g.36593451G>A GRCh38
NC_000011.9:g.36615001G>A , CM000673.1:g.36615001G>A GRCh37
NC_000011.8:g.36571577G>A NCBI36
NG_007573.1:g.9786C>T , LRG_99:g.9786C>T
NG_033154.1:g.3959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.718C>T ENSP00000436895.2:p.Leu240Phe
ENST00000529083.2:c.718C>T ENSP00000436327.2:p.Leu240Phe
ENST00000532616.2:c.718C>T ENSP00000432174.2:p.Leu240Phe
ENST00000311485.8:c.718C>T MANE Select ENSP00000308620.4:p.Leu240Phe
ENST00000311485.7:c.718C>T ENSP00000308620.3:p.Leu240Phe
ENST00000524423.1:n.131+4651C>T
ENST00000618712.4:c.718C>T ENSP00000478672.1:p.Leu240Phe
NM_000536.3:c.718C>T NP_000527.2:p.Leu240Phe
NM_001243785.1:c.718C>T NP_001230714.1:p.Leu240Phe
NM_001243786.1:c.718C>T NP_001230715.1:p.Leu240Phe
NM_000536.4:c.718C>T MANE Select NP_000527.2:p.Leu240Phe
NM_001243785.2:c.718C>T NP_001230714.1:p.Leu240Phe
NM_001243786.2:c.718C>T NP_001230715.1:p.Leu240Phe