Canonical Allele Identifier: CA122854

Gene: RAG2

Linked Data

• ClinVar Variation Id: 13130
• ClinVar RCV Id: RCV001049147 ; RCV001813982 ; RCV003398499 ; RCV003473086
• dbSNP Id: rs121917894
• ExAC: 11:36615033 C / T
• gnomAD v2: 11-36615033-C-T
• gnomAD v3: 11-36593483-C-T
• gnomAD v4: 11-36593483-C-T
• MyVariant Identifiers: chr11:g.36615033C>T (hg19) ; chr11:g.36593483C>T (hg38)
• ERepo: CA122854/MONDO:0000573/124
• PubMed: PMID:8810255 ; PMID:11313270

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593483C>T , CM000673.2:g.36593483C>T	GRCh38
NC_000011.9:g.36615033C>T , CM000673.1:g.36615033C>T	GRCh37
NC_000011.8:g.36571609C>T	NCBI36
NG_007573.1:g.9754G>A , LRG_99:g.9754G>A
NG_033154.1:g.3991C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527033.6:c.686G>A	ENSP00000436895.2:p.Arg229Gln
ENST00000529083.2:c.686G>A	ENSP00000436327.2:p.Arg229Gln
ENST00000532616.2:c.686G>A	ENSP00000432174.2:p.Arg229Gln
ENST00000311485.8:c.686G>A MANE Select	ENSP00000308620.4:p.Arg229Gln
ENST00000311485.7:c.686G>A	ENSP00000308620.3:p.Arg229Gln
ENST00000524423.1:n.131+4619G>A
ENST00000618712.4:c.686G>A	ENSP00000478672.1:p.Arg229Gln
NM_000536.3:c.686G>A	NP_000527.2:p.Arg229Gln
NM_001243785.1:c.686G>A	NP_001230714.1:p.Arg229Gln
NM_001243786.1:c.686G>A	NP_001230715.1:p.Arg229Gln
NM_000536.4:c.686G>A MANE Select	NP_000527.2:p.Arg229Gln
NM_001243785.2:c.686G>A	NP_001230714.1:p.Arg229Gln
NM_001243786.2:c.686G>A	NP_001230715.1:p.Arg229Gln