Canonical Allele Identifier: CA380142196

Gene: RAG2

Linked Data

• gnomAD v4: 11-36593423-C-T
• MyVariant Identifiers: chr11:g.36614973C>T (hg19) ; chr11:g.36593423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593423C>T , CM000673.2:g.36593423C>T	GRCh38
NC_000011.9:g.36614973C>T , CM000673.1:g.36614973C>T	GRCh37
NC_000011.8:g.36571549C>T	NCBI36
NG_007573.1:g.9814G>A , LRG_99:g.9814G>A
NG_033154.1:g.3931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.746G>A	ENSP00000436895.2:p.Cys249Tyr
ENST00000529083.2:c.746G>A	ENSP00000436327.2:p.Cys249Tyr
ENST00000532616.2:c.746G>A	ENSP00000432174.2:p.Cys249Tyr
ENST00000311485.8:c.746G>A MANE Select	ENSP00000308620.4:p.Cys249Tyr
ENST00000311485.7:c.746G>A	ENSP00000308620.3:p.Cys249Tyr
ENST00000524423.1:n.131+4679G>A
ENST00000618712.4:c.746G>A	ENSP00000478672.1:p.Cys249Tyr
NM_000536.3:c.746G>A	NP_000527.2:p.Cys249Tyr
NM_001243785.1:c.746G>A	NP_001230714.1:p.Cys249Tyr
NM_001243786.1:c.746G>A	NP_001230715.1:p.Cys249Tyr
NM_000536.4:c.746G>A MANE Select	NP_000527.2:p.Cys249Tyr
NM_001243785.2:c.746G>A	NP_001230714.1:p.Cys249Tyr
NM_001243786.2:c.746G>A	NP_001230715.1:p.Cys249Tyr