Canonical Allele Identifier: CA936892619

Gene: RAG2 RAG1

Linked Data

• gnomAD v3: 11-36592712-C-CGG
• gnomAD v4: 11-36592712-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592712_36592713insGG , CM000673.2:g.36592712_36592713insGG	GRCh38
NC_000011.9:g.36614262_36614263insGG , CM000673.1:g.36614262_36614263insGG	GRCh37
NC_000011.8:g.36570838_36570839insGG	NCBI36
NG_007573.1:g.10524_10525insCC , LRG_99:g.10524_10525insCC
NG_033154.1:g.3220_3221insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.1456_1457insCC (RAG2)	ENSP00000436895.2:p.Arg486ThrfsTer13
ENST00000529083.2:c.1456_1457insCC (RAG2)	ENSP00000436327.2:p.Arg486ThrfsTer13
ENST00000532616.2:c.1456_1457insCC (RAG2)	ENSP00000432174.2:p.Arg486ThrfsTer13
ENST00000311485.8:c.1456_1457insCC (RAG2) MANE Select	ENSP00000308620.4:p.Arg486ThrfsTer13
ENST00000311485.7:c.1456_1457insCC (RAG2)	ENSP00000308620.3:p.Arg486ThrfsTer13
ENST00000524423.1:n.131+5389_131+5390insCC (RAG2)
ENST00000534663.1:c.*86-255_*86-254insGG (RAG1)	ENSP00000434610.1:n.*86-255_*86-254insGG
ENST00000618712.4:c.1456_1457insCC (RAG2)	ENSP00000478672.1:p.Arg486ThrfsTer13
NM_000536.3:c.1456_1457insCC (RAG2)	NP_000527.2:p.Arg486ThrfsTer13
NM_001243785.1:c.1456_1457insCC (RAG2)	NP_001230714.1:p.Arg486ThrfsTer13
NM_001243786.1:c.1456_1457insCC (RAG2)	NP_001230715.1:p.Arg486ThrfsTer13
NM_000536.4:c.1456_1457insCC (RAG2) MANE Select	NP_000527.2:p.Arg486ThrfsTer13
NM_001243785.2:c.1456_1457insCC (RAG2)	NP_001230714.1:p.Arg486ThrfsTer13
NM_001243786.2:c.1456_1457insCC (RAG2)	NP_001230715.1:p.Arg486ThrfsTer13