Canonical Allele Identifier: CA474033509

Gene: RAG2

Linked Data

• ClinVar Variation Id: 2952987
• ClinVar RCV Id: RCV003818121
• MyVariant Identifiers: chr11:g.36615512G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593962G>A , CM000673.2:g.36593962G>A	GRCh38
NC_000011.9:g.36615512G>A , CM000673.1:g.36615512G>A	GRCh37
NC_000011.8:g.36572088G>A	NCBI36
NG_007573.1:g.9275C>T , LRG_99:g.9275C>T
NG_033154.1:g.4470G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527033.6:c.207C>T	ENSP00000436895.2:p.Leu69=
ENST00000529083.2:c.207C>T	ENSP00000436327.2:p.Leu69=
ENST00000532616.2:c.207C>T	ENSP00000432174.2:p.Leu69=
ENST00000311485.8:c.207C>T MANE Select	ENSP00000308620.4:p.Leu69=
ENST00000311485.7:c.207C>T	ENSP00000308620.3:p.Leu69=
ENST00000524423.1:n.131+4140C>T
ENST00000527033.5:c.207C>T	ENSP00000436895.1:p.Leu69=
ENST00000529083.1:c.207C>T	ENSP00000436327.1:p.Leu69=
ENST00000618712.4:c.207C>T	ENSP00000478672.1:p.Leu69=
NM_000536.3:c.207C>T	NP_000527.2:p.Leu69=
NM_001243785.1:c.207C>T	NP_001230714.1:p.Leu69=
NM_001243786.1:c.207C>T	NP_001230715.1:p.Leu69=
NM_000536.4:c.207C>T MANE Select	NP_000527.2:p.Leu69=
NM_001243785.2:c.207C>T	NP_001230714.1:p.Leu69=
NM_001243786.2:c.207C>T	NP_001230715.1:p.Leu69=