Canonical Allele Identifier: CA220579698

Gene: RAG2

Linked Data

• ClinVar Variation Id: 500475
• ClinVar RCV Id: RCV000595625 ; RCV001220628 ; RCV003403398 ; RCV003465344
• dbSNP Id: rs879541124
• gnomAD v4: 11-36593214-C-A
• MyVariant Identifiers: chr11:g.36614764C>A (hg19) ; chr11:g.36593214C>A (hg38)
• ERepo: CA220579698/MONDO:0000573/124

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593214C>A , CM000673.2:g.36593214C>A	GRCh38
NC_000011.9:g.36614764C>A , CM000673.1:g.36614764C>A	GRCh37
NC_000011.8:g.36571340C>A	NCBI36
NG_007573.1:g.10023G>T , LRG_99:g.10023G>T
NG_033154.1:g.3722C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.955G>T	ENSP00000436895.2:p.Gly319Ter
ENST00000529083.2:c.955G>T	ENSP00000436327.2:p.Gly319Ter
ENST00000532616.2:c.955G>T	ENSP00000432174.2:p.Gly319Ter
ENST00000311485.8:c.955G>T MANE Select	ENSP00000308620.4:p.Gly319Ter
ENST00000311485.7:c.955G>T	ENSP00000308620.3:p.Gly319Ter
ENST00000524423.1:n.131+4888G>T
ENST00000618712.4:c.955G>T	ENSP00000478672.1:p.Gly319Ter
NM_000536.3:c.955G>T	NP_000527.2:p.Gly319Ter
NM_001243785.1:c.955G>T	NP_001230714.1:p.Gly319Ter
NM_001243786.1:c.955G>T	NP_001230715.1:p.Gly319Ter
NM_000536.4:c.955G>T MANE Select	NP_000527.2:p.Gly319Ter
NM_001243785.2:c.955G>T	NP_001230714.1:p.Gly319Ter
NM_001243786.2:c.955G>T	NP_001230715.1:p.Gly319Ter