Canonical Allele Identifier: CA5950490
Gene: RAG2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.36593174G>C
GRCh37 chr11:g.36614724G>C
Revel Score:
ENST00000311485 (MANE Select) 0.979
gnomAD v2:
11:36614724 G / C
gnomAD v3:
11:36593174 G / C
gnomAD v4:
chr11-36593174-G-C
Joint Max Group AF 0.00008443 (SAS)
Genomes Max Group AF 0.00007312 (SAS)
Exomes Max Group AF 0.00007124 (SAS)
ClinVar Allele:
1991080
ClinVar RCV:
RCV002630950
ClinVar Variation:
1927016
dbSNP:
746221994
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593174G>C , CM000673.2:g.36593174G>C GRCh38
NC_000011.9:g.36614724G>C , CM000673.1:g.36614724G>C GRCh37
NC_000011.8:g.36571300G>C NCBI36
NG_007573.1:g.10063C>G , LRG_99:g.10063C>G
NG_033154.1:g.3682G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.995C>G ENSP00000436895.2:p.Pro332Arg
ENST00000529083.2:c.995C>G ENSP00000436327.2:p.Pro332Arg
ENST00000532616.2:c.995C>G ENSP00000432174.2:p.Pro332Arg
ENST00000311485.8:c.995C>G MANE Select ENSP00000308620.4:p.Pro332Arg
ENST00000311485.7:c.995C>G ENSP00000308620.3:p.Pro332Arg
ENST00000524423.1:n.131+4928C>G
ENST00000618712.4:c.995C>G ENSP00000478672.1:p.Pro332Arg
NM_000536.3:c.995C>G NP_000527.2:p.Pro332Arg
NM_001243785.1:c.995C>G NP_001230714.1:p.Pro332Arg
NM_001243786.1:c.995C>G NP_001230715.1:p.Pro332Arg
NM_000536.4:c.995C>G MANE Select NP_000527.2:p.Pro332Arg
NM_001243785.2:c.995C>G NP_001230714.1:p.Pro332Arg
NM_001243786.2:c.995C>G NP_001230715.1:p.Pro332Arg
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