Canonical Allele Identifier: CA380142192

Gene: RAG2

Linked Data

• MyVariant Identifiers: chr11:g.36614971T>C (hg19) ; chr11:g.36593421T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593421T>C , CM000673.2:g.36593421T>C	GRCh38
NC_000011.9:g.36614971T>C , CM000673.1:g.36614971T>C	GRCh37
NC_000011.8:g.36571547T>C	NCBI36
NG_007573.1:g.9816A>G , LRG_99:g.9816A>G
NG_033154.1:g.3929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.748A>G	ENSP00000436895.2:p.Thr250Ala
ENST00000529083.2:c.748A>G	ENSP00000436327.2:p.Thr250Ala
ENST00000532616.2:c.748A>G	ENSP00000432174.2:p.Thr250Ala
ENST00000311485.8:c.748A>G MANE Select	ENSP00000308620.4:p.Thr250Ala
ENST00000311485.7:c.748A>G	ENSP00000308620.3:p.Thr250Ala
ENST00000524423.1:n.131+4681A>G
ENST00000618712.4:c.748A>G	ENSP00000478672.1:p.Thr250Ala
NM_000536.3:c.748A>G	NP_000527.2:p.Thr250Ala
NM_001243785.1:c.748A>G	NP_001230714.1:p.Thr250Ala
NM_001243786.1:c.748A>G	NP_001230715.1:p.Thr250Ala
NM_000536.4:c.748A>G MANE Select	NP_000527.2:p.Thr250Ala
NM_001243785.2:c.748A>G	NP_001230714.1:p.Thr250Ala
NM_001243786.2:c.748A>G	NP_001230715.1:p.Thr250Ala