Canonical Allele Identifier: CA010155

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51038
• ClinVar RCV Id: RCV000043708 ; RCV000112835 ; RCV000222126 ; RCV000781059 ; RCV001090323
• dbSNP Id: rs80358389
• gnomAD v2: 13-32972726-A-G
• gnomAD v3: 13-32398589-A-G
• gnomAD v4: 13-32398589-A-G
• MyVariant Identifiers: chr13:g.32972726A>G (hg19) ; chr13:g.32398589A>G (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398589A>G , CM000675.2:g.32398589A>G	GRCh38
NC_000013.10:g.32972726A>G , CM000675.1:g.32972726A>G	GRCh37
NC_000013.9:g.31870726A>G	NCBI36
NG_012772.3:g.88110A>G , LRG_293:g.88110A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*599A>G	ENSP00000434898.2:n.*599A>G
ENST00000528762.2:c.*1443A>G	ENSP00000433168.2:n.*1443A>G
ENST00000530893.7:c.9707A>G	ENSP00000499438.2:p.Glu3236Gly
ENST00000665585.2:c.*1638A>G	ENSP00000499570.2:n.*1638A>G
ENST00000700202.2:c.10025A>G	ENSP00000514856.2:p.Glu3342Gly
ENST00000700202.1:c.2492A>G	ENSP00000514856.1:p.Glu831Gly
ENST00000700203.1:n.2203A>G
ENST00000380152.8:c.10076A>G MANE Select	ENSP00000369497.3:p.Glu3359Gly
ENST00000544455.6:c.10076A>G	ENSP00000439902.1:p.Glu3359Gly
ENST00000614259.2:c.10084A>G	ENSP00000506251.1:n.10084A>G
ENST00000680887.1:c.10076A>G	ENSP00000505508.1:p.Glu3359Gly
ENST00000380152.7:c.10076A>G	ENSP00000369497.3:p.Glu3359Gly
ENST00000544455.5:c.10076A>G	ENSP00000439902.1:p.Glu3359Gly
NM_000059.3:c.10076A>G , LRG_293t1:c.10076A>G	NP_000050.2:p.Glu3359Gly
XM_011535203.1:c.10076A>G	XP_011533505.1:p.Glu3359Gly
XM_011535204.1:c.9980A>G	XP_011533506.1:p.Glu3327Gly
NM_000059.4:c.10076A>G MANE Select	NP_000050.3:p.Glu3359Gly