Canonical Allele Identifier: CA2580084116

Gene: RAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36594028_36594029delinsCA , CM000673.2:g.36594028_36594029delinsCA	GRCh38
NC_000011.9:g.36615578_36615579delinsCA , CM000673.1:g.36615578_36615579delinsCA	GRCh37
NC_000011.8:g.36572154_36572155delinsCA	NCBI36
NG_007573.1:g.9208_9209delinsTG , LRG_99:g.9208_9209delinsTG
NG_033154.1:g.4536_4537delinsCA

Transcript Alleles

HGVS	Amino-acid Change
NM_000536.4:c.140_141delinsTG MANE Select	NP_000527.2:p.His47Leu
ENST00000311485.8:c.140_141delinsTG MANE Select	ENSP00000308620.4:p.His47Leu
NM_000536.3:c.140_141delinsTG	NP_000527.2:p.His47Leu
NM_001243785.1:c.140_141delinsTG	NP_001230714.1:p.His47Leu
NM_001243785.2:c.140_141delinsTG	NP_001230714.1:p.His47Leu
NM_001243786.1:c.140_141delinsTG	NP_001230715.1:p.His47Leu
NM_001243786.2:c.140_141delinsTG	NP_001230715.1:p.His47Leu
ENST00000311485.7:c.140_141delinsTG	ENSP00000308620.3:p.His47Leu
ENST00000524423.1:n.131+4073_131+4074delinsTG
ENST00000527033.5:c.140_141delinsTG	ENSP00000436895.1:p.His47Leu
ENST00000527033.6:c.140_141delinsTG	ENSP00000436895.2:p.His47Leu
ENST00000529083.1:c.140_141delinsTG	ENSP00000436327.1:p.His47Leu
ENST00000529083.2:c.140_141delinsTG	ENSP00000436327.2:p.His47Leu
ENST00000532616.2:c.140_141delinsTG	ENSP00000432174.2:p.His47Leu
ENST00000618712.4:c.140_141delinsTG	ENSP00000478672.1:p.His47Leu