Canonical Allele Identifier: CA380142921

Gene: RAG2

Linked Data

• ClinVar Variation Id: 1484900
• ClinVar RCV Id: RCV002030270
• dbSNP Id: rs1564997121
• MyVariant Identifiers: chr11:g.36615249C>G (hg19) ; chr11:g.36593699C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593699C>G , CM000673.2:g.36593699C>G	GRCh38
NC_000011.9:g.36615249C>G , CM000673.1:g.36615249C>G	GRCh37
NC_000011.8:g.36571825C>G	NCBI36
NG_007573.1:g.9538G>C , LRG_99:g.9538G>C
NG_033154.1:g.4207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.470G>C	ENSP00000436895.2:p.Gly157Ala
ENST00000529083.2:c.470G>C	ENSP00000436327.2:p.Gly157Ala
ENST00000532616.2:c.470G>C	ENSP00000432174.2:p.Gly157Ala
ENST00000311485.8:c.470G>C MANE Select	ENSP00000308620.4:p.Gly157Ala
ENST00000311485.7:c.470G>C	ENSP00000308620.3:p.Gly157Ala
ENST00000524423.1:n.131+4403G>C
ENST00000618712.4:c.470G>C	ENSP00000478672.1:p.Gly157Ala
NM_000536.3:c.470G>C	NP_000527.2:p.Gly157Ala
NM_001243785.1:c.470G>C	NP_001230714.1:p.Gly157Ala
NM_001243786.1:c.470G>C	NP_001230715.1:p.Gly157Ala
NM_000536.4:c.470G>C MANE Select	NP_000527.2:p.Gly157Ala
NM_001243785.2:c.470G>C	NP_001230714.1:p.Gly157Ala
NM_001243786.2:c.470G>C	NP_001230715.1:p.Gly157Ala