Canonical Allele Identifier: CA380135476

Gene: RAG1 RAG2

Linked Data

• ClinVar Variation Id: 1042333
• ClinVar RCV Id: RCV001346267
• dbSNP Id: rs1850846848
• MyVariant Identifiers: chr11:g.36597678A>T (hg19) ; chr11:g.36576128A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36576128A>T , CM000673.2:g.36576128A>T	GRCh38
NC_000011.9:g.36597678A>T , CM000673.1:g.36597678A>T	GRCh37
NC_000011.8:g.36554254A>T	NCBI36
NG_007528.1:g.13116A>T , LRG_98:g.13116A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697713.1:c.2824A>T (RAG1)	ENSP00000513411.1:p.Thr942Ser
ENST00000697714.1:c.2824A>T (RAG1)	ENSP00000513412.1:p.Thr942Ser
ENST00000697715.1:c.2824A>T (RAG1)	ENSP00000513413.1:p.Thr942Ser
ENST00000299440.6:c.2824A>T (RAG1) MANE Select	ENSP00000299440.5:p.Thr942Ser
ENST00000299440.5:c.2824A>T (RAG1)	ENSP00000299440.5:p.Thr942Ser
ENST00000524423.1:n.132-157T>A (RAG2)
ENST00000534663.1:c.2789+35A>T (RAG1)	ENSP00000434610.1:n.2789+35A>T
NM_000448.2:c.2824A>T , LRG_98t1:c.2824A>T (RAG1)	NP_000439.1:p.Thr942Ser
XM_005253041.3:c.2824A>T (RAG1)	XP_005253098.1:p.Thr942Ser
XM_011520250.1:c.2824A>T (RAG1)	XP_011518552.1:p.Thr942Ser
XM_011520251.1:c.2824A>T (RAG1)	XP_011518553.1:p.Thr942Ser
XM_005253041.4:c.2824A>T (RAG1)	XP_005253098.1:p.Thr942Ser
XM_011520250.2:c.2824A>T (RAG1)	XP_011518552.1:p.Thr942Ser
NM_000448.3:c.2824A>T (RAG1) MANE Select	NP_000439.2:p.Thr942Ser
NM_001377277.1:c.2824A>T (RAG1)	NP_001364206.1:p.Thr942Ser
NM_001377278.1:c.2824A>T (RAG1)	NP_001364207.1:p.Thr942Ser
NM_001377279.1:c.2824A>T (RAG1)	NP_001364208.1:p.Thr942Ser
NM_001377280.1:c.2824A>T (RAG1)	NP_001364209.1:p.Thr942Ser