Canonical Allele Identifier: CA5950418

Gene: RAG2 RAG1

Linked Data

• ClinVar Variation Id: 1113247
• ClinVar RCV Id: RCV001440562
• dbSNP Id: rs528679382
• ExAC: 11:36614315 A / G
• gnomAD v2: 11-36614315-A-G
• gnomAD v3: 11-36592765-A-G
• gnomAD v4: 11-36592765-A-G
• MyVariant Identifiers: chr11:g.36614315A>G (hg19) ; chr11:g.36592765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592765A>G , CM000673.2:g.36592765A>G	GRCh38
NC_000011.9:g.36614315A>G , CM000673.1:g.36614315A>G	GRCh37
NC_000011.8:g.36570891A>G	NCBI36
NG_007573.1:g.10472T>C , LRG_99:g.10472T>C
NG_033154.1:g.3273A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527033.6:c.1404T>C (RAG2)	ENSP00000436895.2:p.His468=
ENST00000529083.2:c.1404T>C (RAG2)	ENSP00000436327.2:p.His468=
ENST00000532616.2:c.1404T>C (RAG2)	ENSP00000432174.2:p.His468=
ENST00000311485.8:c.1404T>C (RAG2) MANE Select	ENSP00000308620.4:p.His468=
ENST00000311485.7:c.1404T>C (RAG2)	ENSP00000308620.3:p.His468=
ENST00000524423.1:n.131+5337T>C (RAG2)
ENST00000534663.1:c.*86-202A>G (RAG1)	ENSP00000434610.1:n.*86-202A>G
ENST00000618712.4:c.1404T>C (RAG2)	ENSP00000478672.1:p.His468=
NM_000536.3:c.1404T>C (RAG2)	NP_000527.2:p.His468=
NM_001243785.1:c.1404T>C (RAG2)	NP_001230714.1:p.His468=
NM_001243786.1:c.1404T>C (RAG2)	NP_001230715.1:p.His468=
NM_000536.4:c.1404T>C (RAG2) MANE Select	NP_000527.2:p.His468=
NM_001243785.2:c.1404T>C (RAG2)	NP_001230714.1:p.His468=
NM_001243786.2:c.1404T>C (RAG2)	NP_001230715.1:p.His468=