Canonical Allele Identifier: CA5950635
Gene: RAG2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.36594155A>T
GRCh37 chr11:g.36615705A>T
Revel Score:
ENST00000311485 (MANE Select) 0.546
ENST00000529083 0.546
ENST00000527033 0.546
gnomAD v2:
11:36615705 A / T
gnomAD v3:
11:36594155 A / T
gnomAD v4:
chr11-36594155-A-T
Joint Max Group AF 0.0003036 (NFE)
Genomes Max Group AF 0.0001943 (NFE)
Exomes Max Group AF 0.00030416 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36594155A>T , CM000673.2:g.36594155A>T GRCh38
NC_000011.9:g.36615705A>T , CM000673.1:g.36615705A>T GRCh37
NC_000011.8:g.36572281A>T NCBI36
NG_007573.1:g.9082T>A , LRG_99:g.9082T>A
NG_033154.1:g.4663A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.14T>A ENSP00000436895.2:p.Met5Lys
ENST00000529083.2:c.14T>A ENSP00000436327.2:p.Met5Lys
ENST00000532616.2:c.14T>A ENSP00000432174.2:p.Met5Lys
ENST00000311485.8:c.14T>A MANE Select ENSP00000308620.4:p.Met5Lys
ENST00000311485.7:c.14T>A ENSP00000308620.3:p.Met5Lys
ENST00000524423.1:n.131+3947T>A
ENST00000527033.5:c.14T>A ENSP00000436895.1:p.Met5Lys
ENST00000529083.1:c.14T>A ENSP00000436327.1:p.Met5Lys
ENST00000618712.4:c.14T>A ENSP00000478672.1:p.Met5Lys
NM_000536.3:c.14T>A NP_000527.2:p.Met5Lys
NM_001243785.1:c.14T>A NP_001230714.1:p.Met5Lys
NM_001243786.1:c.14T>A NP_001230715.1:p.Met5Lys
NM_000536.4:c.14T>A MANE Select NP_000527.2:p.Met5Lys
NM_001243785.2:c.14T>A NP_001230714.1:p.Met5Lys
NM_001243786.2:c.14T>A NP_001230715.1:p.Met5Lys
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