Canonical Allele Identifier: CA474033266

Gene: RAG2

Linked Data

• ClinVar Variation Id: 2944276
• ClinVar RCV Id: RCV003806026
• MyVariant Identifiers: chr11:g.36614993C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593443C>T , CM000673.2:g.36593443C>T	GRCh38
NC_000011.9:g.36614993C>T , CM000673.1:g.36614993C>T	GRCh37
NC_000011.8:g.36571569C>T	NCBI36
NG_007573.1:g.9794G>A , LRG_99:g.9794G>A
NG_033154.1:g.3951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.726G>A	ENSP00000436895.2:p.Leu242=
ENST00000529083.2:c.726G>A	ENSP00000436327.2:p.Leu242=
ENST00000532616.2:c.726G>A	ENSP00000432174.2:p.Leu242=
ENST00000311485.8:c.726G>A MANE Select	ENSP00000308620.4:p.Leu242=
ENST00000311485.7:c.726G>A	ENSP00000308620.3:p.Leu242=
ENST00000524423.1:n.131+4659G>A
ENST00000618712.4:c.726G>A	ENSP00000478672.1:p.Leu242=
NM_000536.3:c.726G>A	NP_000527.2:p.Leu242=
NM_001243785.1:c.726G>A	NP_001230714.1:p.Leu242=
NM_001243786.1:c.726G>A	NP_001230715.1:p.Leu242=
NM_000536.4:c.726G>A MANE Select	NP_000527.2:p.Leu242=
NM_001243785.2:c.726G>A	NP_001230714.1:p.Leu242=
NM_001243786.2:c.726G>A	NP_001230715.1:p.Leu242=