Canonical Allele Identifier: CA214215

Linked Data

ClinVar Variation Id: 36718
dbSNP Id: rs193922573

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36592860C>T , CM000673.2:g.36592860C>T GRCh38
NC_000011.9:g.36614410C>T , CM000673.1:g.36614410C>T GRCh37
NC_000011.8:g.36570986C>T NCBI36
NG_007573.1:g.10377G>A , LRG_99:g.10377G>A
NG_033154.1:g.3368C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000527033.6:c.1309G>A (RAG2) ENSP00000436895.2:p.Glu437Lys
ENST00000529083.2:c.1309G>A (RAG2) ENSP00000436327.2:p.Glu437Lys
ENST00000532616.2:c.1309G>A (RAG2) ENSP00000432174.2:p.Glu437Lys
ENST00000311485.8:c.1309G>A (RAG2) MANE Select ENSP00000308620.4:p.Glu437Lys
ENST00000311485.7:c.1309G>A (RAG2) ENSP00000308620.3:p.Glu437Lys
ENST00000524423.1:n.131+5242G>A (RAG2)
ENST00000534663.1:c.*86-107C>T (RAG1) ENSP00000434610.1:n.*86-107C>T
ENST00000618712.4:c.1309G>A (RAG2) ENSP00000478672.1:p.Glu437Lys
NM_000536.3:c.1309G>A (RAG2) NP_000527.2:p.Glu437Lys
NM_001243785.1:c.1309G>A (RAG2) NP_001230714.1:p.Glu437Lys
NM_001243786.1:c.1309G>A (RAG2) NP_001230715.1:p.Glu437Lys
NM_000536.4:c.1309G>A (RAG2) MANE Select NP_000527.2:p.Glu437Lys
NM_001243785.2:c.1309G>A (RAG2) NP_001230714.1:p.Glu437Lys
NM_001243786.2:c.1309G>A (RAG2) NP_001230715.1:p.Glu437Lys