Canonical Allele Identifier: CA2695213749
Gene: RAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593555_36593557del , CM000673.2:g.36593555_36593557del GRCh38
NC_000011.9:g.36615105_36615107del , CM000673.1:g.36615105_36615107del GRCh37
NC_000011.8:g.36571681_36571683del NCBI36
NG_007573.1:g.9680_9682del , LRG_99:g.9680_9682del
NG_033154.1:g.4063_4065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.612_614del ENSP00000436895.2:p.Ser205del
ENST00000529083.2:c.612_614del ENSP00000436327.2:p.Ser205del
ENST00000532616.2:c.612_614del ENSP00000432174.2:p.Ser205del
ENST00000311485.8:c.612_614del MANE Select ENSP00000308620.4:p.Ser205del
ENST00000311485.7:c.612_614del ENSP00000308620.3:p.Ser205del
ENST00000524423.1:n.131+4545_131+4547del
ENST00000618712.4:c.612_614del ENSP00000478672.1:p.Ser205del
NM_000536.3:c.612_614del NP_000527.2:p.Ser205del
NM_001243785.1:c.612_614del NP_001230714.1:p.Ser205del
NM_001243786.1:c.612_614del NP_001230715.1:p.Ser205del
NM_000536.4:c.612_614del MANE Select NP_000527.2:p.Ser205del
NM_001243785.2:c.612_614del NP_001230714.1:p.Ser205del
NM_001243786.2:c.612_614del NP_001230715.1:p.Ser205del