Canonical Allele Identifier: CA380154862

Gene: RAG1 RAG2

Linked Data

• ClinVar Variation Id: 469112
• ClinVar RCV Id: RCV000529956
• dbSNP Id: rs1215266586
• gnomAD v2: 11-36597354-G-T
• gnomAD v3: 11-36575804-G-T
• gnomAD v4: 11-36575804-G-T
• MyVariant Identifiers: chr11:g.36597354G>T (hg19) ; chr11:g.36575804G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36575804G>T , CM000673.2:g.36575804G>T	GRCh38
NC_000011.9:g.36597354G>T , CM000673.1:g.36597354G>T	GRCh37
NC_000011.8:g.36553930G>T	NCBI36
NG_007528.1:g.12792G>T , LRG_98:g.12792G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.2500G>T (RAG1)	ENSP00000513411.1:p.Ala834Ser
ENST00000697714.1:c.2500G>T (RAG1)	ENSP00000513412.1:p.Ala834Ser
ENST00000697715.1:c.2500G>T (RAG1)	ENSP00000513413.1:p.Ala834Ser
ENST00000299440.6:c.2500G>T (RAG1) MANE Select	ENSP00000299440.5:p.Ala834Ser
ENST00000299440.5:c.2500G>T (RAG1)	ENSP00000299440.5:p.Ala834Ser
ENST00000524423.1:n.299C>A (RAG2)
ENST00000534663.1:c.2500G>T (RAG1)	ENSP00000434610.1:p.Ala834Ser
NM_000448.2:c.2500G>T , LRG_98t1:c.2500G>T (RAG1)	NP_000439.1:p.Ala834Ser
XM_005253041.3:c.2500G>T (RAG1)	XP_005253098.1:p.Ala834Ser
XM_011520250.1:c.2500G>T (RAG1)	XP_011518552.1:p.Ala834Ser
XM_011520251.1:c.2500G>T (RAG1)	XP_011518553.1:p.Ala834Ser
XM_005253041.4:c.2500G>T (RAG1)	XP_005253098.1:p.Ala834Ser
XM_011520250.2:c.2500G>T (RAG1)	XP_011518552.1:p.Ala834Ser
NM_000448.3:c.2500G>T (RAG1) MANE Select	NP_000439.2:p.Ala834Ser
NM_001377277.1:c.2500G>T (RAG1)	NP_001364206.1:p.Ala834Ser
NM_001377278.1:c.2500G>T (RAG1)	NP_001364207.1:p.Ala834Ser
NM_001377279.1:c.2500G>T (RAG1)	NP_001364208.1:p.Ala834Ser
NM_001377280.1:c.2500G>T (RAG1)	NP_001364209.1:p.Ala834Ser