Canonical Allele Identifier: CA380140455

Gene: RAG2 RAG1

Linked Data

• ClinVar Variation Id: 650904
• ClinVar RCV Id: RCV000806149 ; RCV001104241 ; RCV001104242 ; RCV003480843 ; RCV003492174
• dbSNP Id: rs1590713653
• gnomAD v4: 11-36592773-G-A
• MyVariant Identifiers: chr11:g.36614323G>A (hg19) ; chr11:g.36592773G>A (hg38)
• ERepo: CA380140455/MONDO:0000573/124

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592773G>A , CM000673.2:g.36592773G>A	GRCh38
NC_000011.9:g.36614323G>A , CM000673.1:g.36614323G>A	GRCh37
NC_000011.8:g.36570899G>A	NCBI36
NG_007573.1:g.10464C>T , LRG_99:g.10464C>T
NG_033154.1:g.3281G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527033.6:c.1396C>T (RAG2)	ENSP00000436895.2:p.Leu466Phe
ENST00000529083.2:c.1396C>T (RAG2)	ENSP00000436327.2:p.Leu466Phe
ENST00000532616.2:c.1396C>T (RAG2)	ENSP00000432174.2:p.Leu466Phe
ENST00000311485.8:c.1396C>T (RAG2) MANE Select	ENSP00000308620.4:p.Leu466Phe
ENST00000311485.7:c.1396C>T (RAG2)	ENSP00000308620.3:p.Leu466Phe
ENST00000524423.1:n.131+5329C>T (RAG2)
ENST00000534663.1:c.*86-194G>A (RAG1)	ENSP00000434610.1:n.*86-194G>A
ENST00000618712.4:c.1396C>T (RAG2)	ENSP00000478672.1:p.Leu466Phe
NM_000536.3:c.1396C>T (RAG2)	NP_000527.2:p.Leu466Phe
NM_001243785.1:c.1396C>T (RAG2)	NP_001230714.1:p.Leu466Phe
NM_001243786.1:c.1396C>T (RAG2)	NP_001230715.1:p.Leu466Phe
NM_000536.4:c.1396C>T (RAG2) MANE Select	NP_000527.2:p.Leu466Phe
NM_001243785.2:c.1396C>T (RAG2)	NP_001230714.1:p.Leu466Phe
NM_001243786.2:c.1396C>T (RAG2)	NP_001230715.1:p.Leu466Phe