Canonical Allele Identifier: CA5950541

Gene: RAG2

Linked Data

• ClinVar Variation Id: 1483301
• ClinVar RCV Id: RCV001998712
• dbSNP Id: rs121917894
• ExAC: 11:36615033 C / A
• gnomAD v2: 11-36615033-C-A
• gnomAD v3: 11-36593483-C-A
• gnomAD v4: 11-36593483-C-A
• MyVariant Identifiers: chr11:g.36615033C>A (hg19) ; chr11:g.36593483C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593483C>A , CM000673.2:g.36593483C>A	GRCh38
NC_000011.9:g.36615033C>A , CM000673.1:g.36615033C>A	GRCh37
NC_000011.8:g.36571609C>A	NCBI36
NG_007573.1:g.9754G>T , LRG_99:g.9754G>T
NG_033154.1:g.3991C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527033.6:c.686G>T	ENSP00000436895.2:p.Arg229Leu
ENST00000529083.2:c.686G>T	ENSP00000436327.2:p.Arg229Leu
ENST00000532616.2:c.686G>T	ENSP00000432174.2:p.Arg229Leu
ENST00000311485.8:c.686G>T MANE Select	ENSP00000308620.4:p.Arg229Leu
ENST00000311485.7:c.686G>T	ENSP00000308620.3:p.Arg229Leu
ENST00000524423.1:n.131+4619G>T
ENST00000618712.4:c.686G>T	ENSP00000478672.1:p.Arg229Leu
NM_000536.3:c.686G>T	NP_000527.2:p.Arg229Leu
NM_001243785.1:c.686G>T	NP_001230714.1:p.Arg229Leu
NM_001243786.1:c.686G>T	NP_001230715.1:p.Arg229Leu
NM_000536.4:c.686G>T MANE Select	NP_000527.2:p.Arg229Leu
NM_001243785.2:c.686G>T	NP_001230714.1:p.Arg229Leu
NM_001243786.2:c.686G>T	NP_001230715.1:p.Arg229Leu