Canonical Allele Identifier: CA380143191

Gene: RAG2

Linked Data

• dbSNP Id: rs1262937084
• gnomAD v2: 11-36615306-T-G
• MyVariant Identifiers: chr11:g.36615306T>G (hg19) ; chr11:g.36593756T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593756T>G , CM000673.2:g.36593756T>G	GRCh38
NC_000011.9:g.36615306T>G , CM000673.1:g.36615306T>G	GRCh37
NC_000011.8:g.36571882T>G	NCBI36
NG_007573.1:g.9481A>C , LRG_99:g.9481A>C
NG_033154.1:g.4264T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.413A>C	ENSP00000436895.2:p.Tyr138Ser
ENST00000529083.2:c.413A>C	ENSP00000436327.2:p.Tyr138Ser
ENST00000532616.2:c.413A>C	ENSP00000432174.2:p.Tyr138Ser
ENST00000311485.8:c.413A>C MANE Select	ENSP00000308620.4:p.Tyr138Ser
ENST00000311485.7:c.413A>C	ENSP00000308620.3:p.Tyr138Ser
ENST00000524423.1:n.131+4346A>C
ENST00000529083.1:c.413A>C	ENSP00000436327.1:p.Tyr138Ser
ENST00000618712.4:c.413A>C	ENSP00000478672.1:p.Tyr138Ser
NM_000536.3:c.413A>C	NP_000527.2:p.Tyr138Ser
NM_001243785.1:c.413A>C	NP_001230714.1:p.Tyr138Ser
NM_001243786.1:c.413A>C	NP_001230715.1:p.Tyr138Ser
NM_000536.4:c.413A>C MANE Select	NP_000527.2:p.Tyr138Ser
NM_001243785.2:c.413A>C	NP_001230714.1:p.Tyr138Ser
NM_001243786.2:c.413A>C	NP_001230715.1:p.Tyr138Ser