Canonical Allele Identifier: CA380144154

Gene: RAG2

Linked Data

• dbSNP Id: rs1590716822
• gnomAD v4: 11-36593963-A-G
• MyVariant Identifiers: chr11:g.36615513A>G (hg19) ; chr11:g.36593963A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593963A>G , CM000673.2:g.36593963A>G	GRCh38
NC_000011.9:g.36615513A>G , CM000673.1:g.36615513A>G	GRCh37
NC_000011.8:g.36572089A>G	NCBI36
NG_007573.1:g.9274T>C , LRG_99:g.9274T>C
NG_033154.1:g.4471A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527033.6:c.206T>C	ENSP00000436895.2:p.Leu69Pro
ENST00000529083.2:c.206T>C	ENSP00000436327.2:p.Leu69Pro
ENST00000532616.2:c.206T>C	ENSP00000432174.2:p.Leu69Pro
ENST00000311485.8:c.206T>C MANE Select	ENSP00000308620.4:p.Leu69Pro
ENST00000311485.7:c.206T>C	ENSP00000308620.3:p.Leu69Pro
ENST00000524423.1:n.131+4139T>C
ENST00000527033.5:c.206T>C	ENSP00000436895.1:p.Leu69Pro
ENST00000529083.1:c.206T>C	ENSP00000436327.1:p.Leu69Pro
ENST00000618712.4:c.206T>C	ENSP00000478672.1:p.Leu69Pro
NM_000536.3:c.206T>C	NP_000527.2:p.Leu69Pro
NM_001243785.1:c.206T>C	NP_001230714.1:p.Leu69Pro
NM_001243786.1:c.206T>C	NP_001230715.1:p.Leu69Pro
NM_000536.4:c.206T>C MANE Select	NP_000527.2:p.Leu69Pro
NM_001243785.2:c.206T>C	NP_001230714.1:p.Leu69Pro
NM_001243786.2:c.206T>C	NP_001230715.1:p.Leu69Pro