Canonical Allele Identifier: CA1964192798
Community Standard Title: NM_000536.4(RAG2):c.1433G= (p.Cys478=)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36592736C= , CM000673.2:g.36592736C= GRCh38
NC_000011.9:g.36614286C= , CM000673.1:g.36614286C= GRCh37
NC_000011.8:g.36570862C= NCBI36
NG_007573.1:g.10501G= , LRG_99:g.10501G=
NG_033154.1:g.3244C=

Transcript Alleles

HGVS Amino-acid Change
NM_000536.4:c.1433G= (RAG2) MANE Select NP_000527.2:p.Cys478=
ENST00000311485.8:c.1433G= (RAG2) MANE Select ENSP00000308620.4:p.Cys478=
NM_000536.3:c.1433G= (RAG2) NP_000527.2:p.Cys478=
NM_001243785.1:c.1433G= (RAG2) NP_001230714.1:p.Cys478=
NM_001243785.2:c.1433G= (RAG2) NP_001230714.1:p.Cys478=
NM_001243786.1:c.1433G= (RAG2) NP_001230715.1:p.Cys478=
NM_001243786.2:c.1433G= (RAG2) NP_001230715.1:p.Cys478=
ENST00000311485.7:c.1433G= (RAG2) ENSP00000308620.3:p.Cys478=
ENST00000524423.1:n.131+5366G= (RAG2)
ENST00000527033.6:c.1433G= (RAG2) ENSP00000436895.2:p.Cys478=
ENST00000529083.2:c.1433G= (RAG2) ENSP00000436327.2:p.Cys478=
ENST00000532616.2:c.1433G= (RAG2) ENSP00000432174.2:p.Cys478=
ENST00000534663.1:c.*86-231C= (RAG1) ENSP00000434610.1:n.*86-231C=
ENST00000618712.4:c.1433G= (RAG2) ENSP00000478672.1:p.Cys478=