Canonical Allele Identifier: CA16619320
Gene: RAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418453
ClinVar RCV Id: RCV000481067 RCV000681583
dbSNP Id: rs1064793251
MyVariant Identifiers: chr11:g.36615180G>T (hg19) chr11:g.36593630G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593630G>T , CM000673.2:g.36593630G>T GRCh38
NC_000011.9:g.36615180G>T , CM000673.1:g.36615180G>T GRCh37
NC_000011.8:g.36571756G>T NCBI36
NG_007573.1:g.9607C>A , LRG_99:g.9607C>A
NG_033154.1:g.4138G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000527033.6:c.539C>A ENSP00000436895.2:p.Pro180His
ENST00000529083.2:c.539C>A ENSP00000436327.2:p.Pro180His
ENST00000532616.2:c.539C>A ENSP00000432174.2:p.Pro180His
ENST00000311485.8:c.539C>A MANE Select ENSP00000308620.4:p.Pro180His
ENST00000311485.7:c.539C>A ENSP00000308620.3:p.Pro180His
ENST00000524423.1:n.131+4472C>A
ENST00000618712.4:c.539C>A ENSP00000478672.1:p.Pro180His
NM_000536.3:c.539C>A NP_000527.2:p.Pro180His
NM_001243785.1:c.539C>A NP_001230714.1:p.Pro180His
NM_001243786.1:c.539C>A NP_001230715.1:p.Pro180His
NM_000536.4:c.539C>A MANE Select NP_000527.2:p.Pro180His
NM_001243785.2:c.539C>A NP_001230714.1:p.Pro180His
NM_001243786.2:c.539C>A NP_001230715.1:p.Pro180His
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