Canonical Allele Identifier: CA2695213754
Gene: RAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593962dup , CM000673.2:g.36593962dup GRCh38
NC_000011.9:g.36615512dup , CM000673.1:g.36615512dup GRCh37
NC_000011.8:g.36572088dup NCBI36
NG_007573.1:g.9277dup , LRG_99:g.9277dup
NG_033154.1:g.4470dup

Transcript Alleles

HGVS Amino-acid change
ENST00000527033.6:c.209dup ENSP00000436895.2:p.Pro71SerfsTer17
ENST00000529083.2:c.209dup ENSP00000436327.2:p.Pro71SerfsTer17
ENST00000532616.2:c.209dup ENSP00000432174.2:p.Pro71SerfsTer17
ENST00000311485.8:c.209dup MANE Select ENSP00000308620.4:p.Pro71SerfsTer17
ENST00000311485.7:c.209dup ENSP00000308620.3:p.Pro71SerfsTer17
ENST00000524423.1:n.131+4142dup
ENST00000527033.5:c.209dup ENSP00000436895.1:p.Pro70=
ENST00000529083.1:c.209dup ENSP00000436327.1:p.Pro71SerfsTer17
ENST00000618712.4:c.209dup ENSP00000478672.1:p.Pro71SerfsTer17
NM_000536.3:c.209dup NP_000527.2:p.Pro71SerfsTer17
NM_001243785.1:c.209dup NP_001230714.1:p.Pro71SerfsTer17
NM_001243786.1:c.209dup NP_001230715.1:p.Pro71SerfsTer17
NM_000536.4:c.209dup MANE Select NP_000527.2:p.Pro71SerfsTer17
NM_001243785.2:c.209dup NP_001230714.1:p.Pro71SerfsTer17
NM_001243786.2:c.209dup NP_001230715.1:p.Pro71SerfsTer17