Canonical Allele Identifier: CA936892634

Gene: RAG2 RAG1

Linked Data

• gnomAD v3: 11-36592724-ACATGC-A
• gnomAD v4: 11-36592724-ACATGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592725_36592729del , CM000673.2:g.36592725_36592729del	GRCh38
NC_000011.9:g.36614275_36614279del , CM000673.1:g.36614275_36614279del	GRCh37
NC_000011.8:g.36570851_36570855del	NCBI36
NG_007573.1:g.10508_10512del , LRG_99:g.10508_10512del
NG_033154.1:g.3233_3237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.1440_1444del (RAG2)	ENSP00000436895.2:p.Glu480AspfsTer26
ENST00000529083.2:c.1440_1444del (RAG2)	ENSP00000436327.2:p.Glu480AspfsTer26
ENST00000532616.2:c.1440_1444del (RAG2)	ENSP00000432174.2:p.Glu480AspfsTer26
ENST00000311485.8:c.1440_1444del (RAG2) MANE Select	ENSP00000308620.4:p.Glu480AspfsTer26
ENST00000311485.7:c.1440_1444del (RAG2)	ENSP00000308620.3:p.Glu480AspfsTer26
ENST00000524423.1:n.131+5373_131+5377del (RAG2)
ENST00000534663.1:c.*86-242_*86-238del (RAG1)	ENSP00000434610.1:n.*86-242_*86-238del
ENST00000618712.4:c.1440_1444del (RAG2)	ENSP00000478672.1:p.Glu480AspfsTer26
NM_000536.3:c.1440_1444del (RAG2)	NP_000527.2:p.Glu480AspfsTer26
NM_001243785.1:c.1440_1444del (RAG2)	NP_001230714.1:p.Glu480AspfsTer26
NM_001243786.1:c.1440_1444del (RAG2)	NP_001230715.1:p.Glu480AspfsTer26
NM_000536.4:c.1440_1444del (RAG2) MANE Select	NP_000527.2:p.Glu480AspfsTer26
NM_001243785.2:c.1440_1444del (RAG2)	NP_001230714.1:p.Glu480AspfsTer26
NM_001243786.2:c.1440_1444del (RAG2)	NP_001230715.1:p.Glu480AspfsTer26