Canonical Allele Identifier: CA2831039187

Gene: RAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593486del , CM000673.2:g.36593486del	GRCh38
NC_000011.9:g.36615036del , CM000673.1:g.36615036del	GRCh37
NC_000011.8:g.36571612del	NCBI36
NG_007573.1:g.9751del , LRG_99:g.9751del
NG_033154.1:g.3994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.683del	ENSP00000436895.2:p.Ile228ThrfsTer9
ENST00000529083.2:c.683del	ENSP00000436327.2:p.Ile228ThrfsTer9
ENST00000532616.2:c.683del	ENSP00000432174.2:p.Ile228ThrfsTer9
ENST00000311485.8:c.683del MANE Select	ENSP00000308620.4:p.Ile228ThrfsTer9
ENST00000311485.7:c.683del	ENSP00000308620.3:p.Ile228ThrfsTer9
ENST00000524423.1:n.131+4616del
ENST00000618712.4:c.683del	ENSP00000478672.1:p.Ile228ThrfsTer9
NM_000536.3:c.683del	NP_000527.2:p.Ile228ThrfsTer9
NM_001243785.1:c.683del	NP_001230714.1:p.Ile228ThrfsTer9
NM_001243786.1:c.683del	NP_001230715.1:p.Ile228ThrfsTer9
NM_000536.4:c.683del MANE Select	NP_000527.2:p.Ile228ThrfsTer9
NM_001243785.2:c.683del	NP_001230714.1:p.Ile228ThrfsTer9
NM_001243786.2:c.683del	NP_001230715.1:p.Ile228ThrfsTer9