Canonical Allele Identifier: CA380145283

Gene: RAG2

Linked Data

• ClinVar Variation Id: 1512780
• ClinVar RCV Id: RCV002023203
• dbSNP Id: rs1851109238
• MyVariant Identifiers: chr11:g.36615706T>A (hg19) ; chr11:g.36594156T>A (hg38)
• ERepo: CA380145283/MONDO:0000573/124

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36594156T>A , CM000673.2:g.36594156T>A	GRCh38
NC_000011.9:g.36615706T>A , CM000673.1:g.36615706T>A	GRCh37
NC_000011.8:g.36572282T>A	NCBI36
NG_007573.1:g.9081A>T , LRG_99:g.9081A>T
NG_033154.1:g.4664T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.13A>T	ENSP00000436895.2:p.Met5Leu
ENST00000529083.2:c.13A>T	ENSP00000436327.2:p.Met5Leu
ENST00000532616.2:c.13A>T	ENSP00000432174.2:p.Met5Leu
ENST00000311485.8:c.13A>T MANE Select	ENSP00000308620.4:p.Met5Leu
ENST00000311485.7:c.13A>T	ENSP00000308620.3:p.Met5Leu
ENST00000524423.1:n.131+3946A>T
ENST00000527033.5:c.13A>T	ENSP00000436895.1:p.Met5Leu
ENST00000529083.1:c.13A>T	ENSP00000436327.1:p.Met5Leu
ENST00000618712.4:c.13A>T	ENSP00000478672.1:p.Met5Leu
NM_000536.3:c.13A>T	NP_000527.2:p.Met5Leu
NM_001243785.1:c.13A>T	NP_001230714.1:p.Met5Leu
NM_001243786.1:c.13A>T	NP_001230715.1:p.Met5Leu
NM_000536.4:c.13A>T MANE Select	NP_000527.2:p.Met5Leu
NM_001243785.2:c.13A>T	NP_001230714.1:p.Met5Leu
NM_001243786.2:c.13A>T	NP_001230715.1:p.Met5Leu