Canonical Allele Identifier: CA474032888

Gene: RAG2 RAG1

Linked Data

• ClinVar Variation Id: 2943799
• ClinVar RCV Id: RCV003803357
• dbSNP Id: rs1441597690
• gnomAD v2: 11-36614270-C-T
• gnomAD v4: 11-36592720-C-T
• MyVariant Identifiers: chr11:g.36614270C>T (hg19) ; chr11:g.36592720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592720C>T , CM000673.2:g.36592720C>T	GRCh38
NC_000011.9:g.36614270C>T , CM000673.1:g.36614270C>T	GRCh37
NC_000011.8:g.36570846C>T	NCBI36
NG_007573.1:g.10517G>A , LRG_99:g.10517G>A
NG_033154.1:g.3228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.1449G>A (RAG2)	ENSP00000436895.2:p.Glu483=
ENST00000529083.2:c.1449G>A (RAG2)	ENSP00000436327.2:p.Glu483=
ENST00000532616.2:c.1449G>A (RAG2)	ENSP00000432174.2:p.Glu483=
ENST00000311485.8:c.1449G>A (RAG2) MANE Select	ENSP00000308620.4:p.Glu483=
ENST00000311485.7:c.1449G>A (RAG2)	ENSP00000308620.3:p.Glu483=
ENST00000524423.1:n.131+5382G>A (RAG2)
ENST00000534663.1:c.*86-247C>T (RAG1)	ENSP00000434610.1:n.*86-247C>T
ENST00000618712.4:c.1449G>A (RAG2)	ENSP00000478672.1:p.Glu483=
NM_000536.3:c.1449G>A (RAG2)	NP_000527.2:p.Glu483=
NM_001243785.1:c.1449G>A (RAG2)	NP_001230714.1:p.Glu483=
NM_001243786.1:c.1449G>A (RAG2)	NP_001230715.1:p.Glu483=
NM_000536.4:c.1449G>A (RAG2) MANE Select	NP_000527.2:p.Glu483=
NM_001243785.2:c.1449G>A (RAG2)	NP_001230714.1:p.Glu483=
NM_001243786.2:c.1449G>A (RAG2)	NP_001230715.1:p.Glu483=