Canonical Allele Identifier: CA380142238

Gene: RAG2

Linked Data

• gnomAD v4: 11-36593442-C-A
• MyVariant Identifiers: chr11:g.36614992C>A (hg19) ; chr11:g.36593442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593442C>A , CM000673.2:g.36593442C>A	GRCh38
NC_000011.9:g.36614992C>A , CM000673.1:g.36614992C>A	GRCh37
NC_000011.8:g.36571568C>A	NCBI36
NG_007573.1:g.9795G>T , LRG_99:g.9795G>T
NG_033154.1:g.3950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.727G>T	ENSP00000436895.2:p.Gly243Cys
ENST00000529083.2:c.727G>T	ENSP00000436327.2:p.Gly243Cys
ENST00000532616.2:c.727G>T	ENSP00000432174.2:p.Gly243Cys
ENST00000311485.8:c.727G>T MANE Select	ENSP00000308620.4:p.Gly243Cys
ENST00000311485.7:c.727G>T	ENSP00000308620.3:p.Gly243Cys
ENST00000524423.1:n.131+4660G>T
ENST00000618712.4:c.727G>T	ENSP00000478672.1:p.Gly243Cys
NM_000536.3:c.727G>T	NP_000527.2:p.Gly243Cys
NM_001243785.1:c.727G>T	NP_001230714.1:p.Gly243Cys
NM_001243786.1:c.727G>T	NP_001230715.1:p.Gly243Cys
NM_000536.4:c.727G>T MANE Select	NP_000527.2:p.Gly243Cys
NM_001243785.2:c.727G>T	NP_001230714.1:p.Gly243Cys
NM_001243786.2:c.727G>T	NP_001230715.1:p.Gly243Cys