Canonical Allele Identifier: CA380142210

Gene: RAG2

Linked Data

• ClinVar Variation Id: 1447627
• ClinVar RCV Id: RCV002011950
• dbSNP Id: rs2133313736
• MyVariant Identifiers: chr11:g.36614979A>T (hg19) ; chr11:g.36593429A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593429A>T , CM000673.2:g.36593429A>T	GRCh38
NC_000011.9:g.36614979A>T , CM000673.1:g.36614979A>T	GRCh37
NC_000011.8:g.36571555A>T	NCBI36
NG_007573.1:g.9808T>A , LRG_99:g.9808T>A
NG_033154.1:g.3937A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.740T>A	ENSP00000436895.2:p.Val247Glu
ENST00000529083.2:c.740T>A	ENSP00000436327.2:p.Val247Glu
ENST00000532616.2:c.740T>A	ENSP00000432174.2:p.Val247Glu
ENST00000311485.8:c.740T>A MANE Select	ENSP00000308620.4:p.Val247Glu
ENST00000311485.7:c.740T>A	ENSP00000308620.3:p.Val247Glu
ENST00000524423.1:n.131+4673T>A
ENST00000618712.4:c.740T>A	ENSP00000478672.1:p.Val247Glu
NM_000536.3:c.740T>A	NP_000527.2:p.Val247Glu
NM_001243785.1:c.740T>A	NP_001230714.1:p.Val247Glu
NM_001243786.1:c.740T>A	NP_001230715.1:p.Val247Glu
NM_000536.4:c.740T>A MANE Select	NP_000527.2:p.Val247Glu
NM_001243785.2:c.740T>A	NP_001230714.1:p.Val247Glu
NM_001243786.2:c.740T>A	NP_001230715.1:p.Val247Glu