Canonical Allele Identifier: CA380142158

Gene: RAG2

Linked Data

• ClinVar Variation Id: 2087899
• ClinVar RCV Id: RCV003017966
• MyVariant Identifiers: chr11:g.36614953T>G (hg19) ; chr11:g.36593403T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593403T>G , CM000673.2:g.36593403T>G	GRCh38
NC_000011.9:g.36614953T>G , CM000673.1:g.36614953T>G	GRCh37
NC_000011.8:g.36571529T>G	NCBI36
NG_007573.1:g.9834A>C , LRG_99:g.9834A>C
NG_033154.1:g.3911T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.766A>C	ENSP00000436895.2:p.Ile256Leu
ENST00000529083.2:c.766A>C	ENSP00000436327.2:p.Ile256Leu
ENST00000532616.2:c.766A>C	ENSP00000432174.2:p.Ile256Leu
ENST00000311485.8:c.766A>C MANE Select	ENSP00000308620.4:p.Ile256Leu
ENST00000311485.7:c.766A>C	ENSP00000308620.3:p.Ile256Leu
ENST00000524423.1:n.131+4699A>C
ENST00000618712.4:c.766A>C	ENSP00000478672.1:p.Ile256Leu
NM_000536.3:c.766A>C	NP_000527.2:p.Ile256Leu
NM_001243785.1:c.766A>C	NP_001230714.1:p.Ile256Leu
NM_001243786.1:c.766A>C	NP_001230715.1:p.Ile256Leu
NM_000536.4:c.766A>C MANE Select	NP_000527.2:p.Ile256Leu
NM_001243785.2:c.766A>C	NP_001230714.1:p.Ile256Leu
NM_001243786.2:c.766A>C	NP_001230715.1:p.Ile256Leu