Canonical Allele Identifier: CA912972085

Gene: RAG2 RAG1

Linked Data

• dbSNP Id: rs1851044971
• gnomAD v3: 11-36592697-GGAGT-G
• gnomAD v4: 11-36592697-GGAGT-G
• MyVariant Identifiers: chr11:g.36614248_36614251del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592699_36592702del , CM000673.2:g.36592699_36592702del	GRCh38
NC_000011.9:g.36614249_36614252del , CM000673.1:g.36614249_36614252del	GRCh37
NC_000011.8:g.36570825_36570828del	NCBI36
NG_007573.1:g.10536_10539del , LRG_99:g.10536_10539del
NG_033154.1:g.3207_3210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.1468_1471del (RAG2)	ENSP00000436895.2:p.Thr490ProfsTer7
ENST00000529083.2:c.1468_1471del (RAG2)	ENSP00000436327.2:p.Thr490ProfsTer7
ENST00000532616.2:c.1468_1471del (RAG2)	ENSP00000432174.2:p.Thr490ProfsTer7
ENST00000311485.8:c.1468_1471del (RAG2) MANE Select	ENSP00000308620.4:p.Thr490ProfsTer7
ENST00000311485.7:c.1468_1471del (RAG2)	ENSP00000308620.3:p.Thr490ProfsTer7
ENST00000524423.1:n.131+5401_131+5404del (RAG2)
ENST00000534663.1:c.*86-268_*86-265del (RAG1)	ENSP00000434610.1:n.*86-268_*86-265del
ENST00000618712.4:c.1468_1471del (RAG2)	ENSP00000478672.1:p.Thr490ProfsTer7
NM_000536.3:c.1468_1471del (RAG2)	NP_000527.2:p.Thr490ProfsTer7
NM_001243785.1:c.1468_1471del (RAG2)	NP_001230714.1:p.Thr490ProfsTer7
NM_001243786.1:c.1468_1471del (RAG2)	NP_001230715.1:p.Thr490ProfsTer7
NM_000536.4:c.1468_1471del (RAG2) MANE Select	NP_000527.2:p.Thr490ProfsTer7
NM_001243785.2:c.1468_1471del (RAG2)	NP_001230714.1:p.Thr490ProfsTer7
NM_001243786.2:c.1468_1471del (RAG2)	NP_001230715.1:p.Thr490ProfsTer7