Canonical Allele Identifier: CA380142689
Gene: RAG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593647A>C , CM000673.2:g.36593647A>C GRCh38
NC_000011.9:g.36615197A>C , CM000673.1:g.36615197A>C GRCh37
NC_000011.8:g.36571773A>C NCBI36
NG_007573.1:g.9590T>G , LRG_99:g.9590T>G
NG_033154.1:g.4155A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527033.6:c.522T>G ENSP00000436895.2:p.Ser174Arg
ENST00000529083.2:c.522T>G ENSP00000436327.2:p.Ser174Arg
ENST00000532616.2:c.522T>G ENSP00000432174.2:p.Ser174Arg
ENST00000311485.8:c.522T>G MANE Select ENSP00000308620.4:p.Ser174Arg
ENST00000311485.7:c.522T>G ENSP00000308620.3:p.Ser174Arg
ENST00000524423.1:n.131+4455T>G
ENST00000618712.4:c.522T>G ENSP00000478672.1:p.Ser174Arg
NM_000536.3:c.522T>G NP_000527.2:p.Ser174Arg
NM_001243785.1:c.522T>G NP_001230714.1:p.Ser174Arg
NM_001243786.1:c.522T>G NP_001230715.1:p.Ser174Arg
NM_000536.4:c.522T>G MANE Select NP_000527.2:p.Ser174Arg
NM_001243785.2:c.522T>G NP_001230714.1:p.Ser174Arg
NM_001243786.2:c.522T>G NP_001230715.1:p.Ser174Arg