Canonical Allele Identifier: CA380140688

Gene: RAG2 RAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592879C>T , CM000673.2:g.36592879C>T	GRCh38
NC_000011.9:g.36614429C>T , CM000673.1:g.36614429C>T	GRCh37
NC_000011.8:g.36571005C>T	NCBI36
NG_007573.1:g.10358G>A , LRG_99:g.10358G>A
NG_033154.1:g.3387C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000536.4:c.1290G>A (RAG2) MANE Select	NP_000527.2:p.Trp430Ter
ENST00000311485.8:c.1290G>A (RAG2) MANE Select	ENSP00000308620.4:p.Trp430Ter
NM_000536.3:c.1290G>A (RAG2)	NP_000527.2:p.Trp430Ter
NM_001243785.1:c.1290G>A (RAG2)	NP_001230714.1:p.Trp430Ter
NM_001243785.2:c.1290G>A (RAG2)	NP_001230714.1:p.Trp430Ter
NM_001243786.1:c.1290G>A (RAG2)	NP_001230715.1:p.Trp430Ter
NM_001243786.2:c.1290G>A (RAG2)	NP_001230715.1:p.Trp430Ter
ENST00000311485.7:c.1290G>A (RAG2)	ENSP00000308620.3:p.Trp430Ter
ENST00000524423.1:n.131+5223G>A (RAG2)
ENST00000527033.6:c.1290G>A (RAG2)	ENSP00000436895.2:p.Trp430Ter
ENST00000529083.2:c.1290G>A (RAG2)	ENSP00000436327.2:p.Trp430Ter
ENST00000532616.2:c.1290G>A (RAG2)	ENSP00000432174.2:p.Trp430Ter
ENST00000534663.1:c.*86-88C>T (RAG1)	ENSP00000434610.1:n.*86-88C>T
ENST00000618712.4:c.1290G>A (RAG2)	ENSP00000478672.1:p.Trp430Ter