Canonical Allele Identifier: CA380142724

Gene: RAG2

Linked Data

• ClinVar Variation Id: 2014160
• ClinVar RCV Id: RCV002829898
• dbSNP Id: rs1182932466
• gnomAD v2: 11-36615203-C-G
• gnomAD v3: 11-36593653-C-G
• gnomAD v4: 11-36593653-C-G
• MyVariant Identifiers: chr11:g.36615203C>G (hg19) ; chr11:g.36593653C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593653C>G , CM000673.2:g.36593653C>G	GRCh38
NC_000011.9:g.36615203C>G , CM000673.1:g.36615203C>G	GRCh37
NC_000011.8:g.36571779C>G	NCBI36
NG_007573.1:g.9584G>C , LRG_99:g.9584G>C
NG_033154.1:g.4161C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.516G>C	ENSP00000436895.2:p.Trp172Cys
ENST00000529083.2:c.516G>C	ENSP00000436327.2:p.Trp172Cys
ENST00000532616.2:c.516G>C	ENSP00000432174.2:p.Trp172Cys
ENST00000311485.8:c.516G>C MANE Select	ENSP00000308620.4:p.Trp172Cys
ENST00000311485.7:c.516G>C	ENSP00000308620.3:p.Trp172Cys
ENST00000524423.1:n.131+4449G>C
ENST00000618712.4:c.516G>C	ENSP00000478672.1:p.Trp172Cys
NM_000536.3:c.516G>C	NP_000527.2:p.Trp172Cys
NM_001243785.1:c.516G>C	NP_001230714.1:p.Trp172Cys
NM_001243786.1:c.516G>C	NP_001230715.1:p.Trp172Cys
NM_000536.4:c.516G>C MANE Select	NP_000527.2:p.Trp172Cys
NM_001243785.2:c.516G>C	NP_001230714.1:p.Trp172Cys
NM_001243786.2:c.516G>C	NP_001230715.1:p.Trp172Cys