Canonical Allele Identifier: CA380140995
Community Standard Title: NM_000536.4(RAG2):c.1156T>C (p.Phe386Leu)
Gene: RAG2 HGNC NCBI
RAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593013A>G , CM000673.2:g.36593013A>G GRCh38
NC_000011.9:g.36614563A>G , CM000673.1:g.36614563A>G GRCh37
NC_000011.8:g.36571139A>G NCBI36
NG_007573.1:g.10224T>C , LRG_99:g.10224T>C
NG_033154.1:g.3521A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000536.4:c.1156T>C (RAG2) MANE Select NP_000527.2:p.Phe386Leu
ENST00000311485.8:c.1156T>C (RAG2) MANE Select ENSP00000308620.4:p.Phe386Leu
NM_000536.3:c.1156T>C (RAG2) NP_000527.2:p.Phe386Leu
NM_001243785.1:c.1156T>C (RAG2) NP_001230714.1:p.Phe386Leu
NM_001243785.2:c.1156T>C (RAG2) NP_001230714.1:p.Phe386Leu
NM_001243786.1:c.1156T>C (RAG2) NP_001230715.1:p.Phe386Leu
NM_001243786.2:c.1156T>C (RAG2) NP_001230715.1:p.Phe386Leu
ENST00000311485.7:c.1156T>C (RAG2) ENSP00000308620.3:p.Phe386Leu
ENST00000524423.1:n.131+5089T>C (RAG2)
ENST00000527033.6:c.1156T>C (RAG2) ENSP00000436895.2:p.Phe386Leu
ENST00000529083.2:c.1156T>C (RAG2) ENSP00000436327.2:p.Phe386Leu
ENST00000532616.2:c.1156T>C (RAG2) ENSP00000432174.2:p.Phe386Leu
ENST00000534663.1:c.*132A>G (RAG1) ENSP00000434610.1:n.*132A>G
ENST00000618712.4:c.1156T>C (RAG2) ENSP00000478672.1:p.Phe386Leu
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