Canonical Allele Identifier: CA380142694

Gene: RAG2

Linked Data

• dbSNP Id: rs1459767586
• gnomAD v2: 11-36615198-C-G
• gnomAD v3: 11-36593648-C-G
• gnomAD v4: 11-36593648-C-G
• MyVariant Identifiers: chr11:g.36615198C>G (hg19) ; chr11:g.36593648C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36593648C>G , CM000673.2:g.36593648C>G	GRCh38
NC_000011.9:g.36615198C>G , CM000673.1:g.36615198C>G	GRCh37
NC_000011.8:g.36571774C>G	NCBI36
NG_007573.1:g.9589G>C , LRG_99:g.9589G>C
NG_033154.1:g.4156C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.521G>C	ENSP00000436895.2:p.Ser174Thr
ENST00000529083.2:c.521G>C	ENSP00000436327.2:p.Ser174Thr
ENST00000532616.2:c.521G>C	ENSP00000432174.2:p.Ser174Thr
ENST00000311485.8:c.521G>C MANE Select	ENSP00000308620.4:p.Ser174Thr
ENST00000311485.7:c.521G>C	ENSP00000308620.3:p.Ser174Thr
ENST00000524423.1:n.131+4454G>C
ENST00000618712.4:c.521G>C	ENSP00000478672.1:p.Ser174Thr
NM_000536.3:c.521G>C	NP_000527.2:p.Ser174Thr
NM_001243785.1:c.521G>C	NP_001230714.1:p.Ser174Thr
NM_001243786.1:c.521G>C	NP_001230715.1:p.Ser174Thr
NM_000536.4:c.521G>C MANE Select	NP_000527.2:p.Ser174Thr
NM_001243785.2:c.521G>C	NP_001230714.1:p.Ser174Thr
NM_001243786.2:c.521G>C	NP_001230715.1:p.Ser174Thr