Canonical Allele Identifier: CA236386
Gene: RAG2 HGNC NCBI
RAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191271
ClinVar RCV Id: RCV001852070 RCV003474922
dbSNP Id: rs786205616
gnomAD v4: 11-36592762-CAGAT-C
MyVariant Identifiers: chr11:g.36614313_36614316del (hg19) chr11:g.36592763_36592766del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36592763_36592766del , CM000673.2:g.36592763_36592766del GRCh38
NC_000011.9:g.36614313_36614316del , CM000673.1:g.36614313_36614316del GRCh37
NC_000011.8:g.36570889_36570892del NCBI36
NG_007573.1:g.10471_10474del , LRG_99:g.10471_10474del
NG_033154.1:g.3271_3274del

Transcript Alleles

HGVS Amino-acid change
ENST00000527033.6:c.1403_1406del (RAG2) ENSP00000436895.2:p.His468ArgfsTer16
ENST00000529083.2:c.1403_1406del (RAG2) ENSP00000436327.2:p.His468ArgfsTer16
ENST00000532616.2:c.1403_1406del (RAG2) ENSP00000432174.2:p.His468ArgfsTer16
ENST00000311485.8:c.1403_1406del (RAG2) MANE Select ENSP00000308620.4:p.His468ArgfsTer16
ENST00000311485.7:c.1403_1406del (RAG2) ENSP00000308620.3:p.His468ArgfsTer16
ENST00000524423.1:n.131+5336_131+5339del (RAG2)
ENST00000534663.1:c.*86-204_*86-201del (RAG1) ENSP00000434610.1:n.*86-204_*86-201del
ENST00000618712.4:c.1403_1406del (RAG2) ENSP00000478672.1:p.His468ArgfsTer16
NM_000536.3:c.1403_1406del (RAG2) NP_000527.2:p.His468ArgfsTer16
NM_001243785.1:c.1403_1406del (RAG2) NP_001230714.1:p.His468ArgfsTer16
NM_001243786.1:c.1403_1406del (RAG2) NP_001230715.1:p.His468ArgfsTer16
NM_000536.4:c.1403_1406del (RAG2) MANE Select NP_000527.2:p.His468ArgfsTer16
NM_001243785.2:c.1403_1406del (RAG2) NP_001230714.1:p.His468ArgfsTer16
NM_001243786.2:c.1403_1406del (RAG2) NP_001230715.1:p.His468ArgfsTer16
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