Canonical Allele Identifier: CA380140225

Gene: RAG2 RAG1

Linked Data

• ClinVar Variation Id: 1000609
• ClinVar RCV Id: RCV001296764
• dbSNP Id: rs781104028
• gnomAD v4: 11-36592668-G-C
• MyVariant Identifiers: chr11:g.36614218G>C (hg19) ; chr11:g.36592668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592668G>C , CM000673.2:g.36592668G>C	GRCh38
NC_000011.9:g.36614218G>C , CM000673.1:g.36614218G>C	GRCh37
NC_000011.8:g.36570794G>C	NCBI36
NG_007573.1:g.10569C>G , LRG_99:g.10569C>G
NG_033154.1:g.3176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.1501C>G (RAG2)	ENSP00000436895.2:p.Pro501Ala
ENST00000529083.2:c.1501C>G (RAG2)	ENSP00000436327.2:p.Pro501Ala
ENST00000532616.2:c.1501C>G (RAG2)	ENSP00000432174.2:p.Pro501Ala
ENST00000311485.8:c.1501C>G (RAG2) MANE Select	ENSP00000308620.4:p.Pro501Ala
ENST00000311485.7:c.1501C>G (RAG2)	ENSP00000308620.3:p.Pro501Ala
ENST00000524423.1:n.131+5434C>G (RAG2)
ENST00000534663.1:c.*86-299G>C (RAG1)	ENSP00000434610.1:n.*86-299G>C
ENST00000618712.4:c.1501C>G (RAG2)	ENSP00000478672.1:p.Pro501Ala
NM_000536.3:c.1501C>G (RAG2)	NP_000527.2:p.Pro501Ala
NM_001243785.1:c.1501C>G (RAG2)	NP_001230714.1:p.Pro501Ala
NM_001243786.1:c.1501C>G (RAG2)	NP_001230715.1:p.Pro501Ala
NM_000536.4:c.1501C>G (RAG2) MANE Select	NP_000527.2:p.Pro501Ala
NM_001243785.2:c.1501C>G (RAG2)	NP_001230714.1:p.Pro501Ala
NM_001243786.2:c.1501C>G (RAG2)	NP_001230715.1:p.Pro501Ala