Canonical Allele Identifier: CA026326

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52913
• ClinVar RCV Id: RCV000083164 ; RCV000509696 ; RCV001309231 ; RCV000588627 ; RCV004537217 ; RCV003321492
• dbSNP Id: rs80359249
• ExAC: 13:32972555 G / A
• gnomAD v2: 13-32972555-G-A
• gnomAD v3: 13-32398418-G-A
• gnomAD v4: 13-32398418-G-A
• MyVariant Identifiers: chr13:g.32972555G>A (hg19) ; chr13:g.32398418G>A (hg38)
• PubMed: PMID:12491499 ; PMID:22505045

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398418G>A , CM000675.2:g.32398418G>A	GRCh38
NC_000013.10:g.32972555G>A , CM000675.1:g.32972555G>A	GRCh37
NC_000013.9:g.31870555G>A	NCBI36
NG_012772.3:g.87939G>A , LRG_293:g.87939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*428G>A	ENSP00000434898.2:n.*428G>A
ENST00000528762.2:c.*1272G>A	ENSP00000433168.2:n.*1272G>A
ENST00000530893.7:c.9536G>A	ENSP00000499438.2:p.Arg3179Lys
ENST00000665585.2:c.*1467G>A	ENSP00000499570.2:n.*1467G>A
ENST00000700202.2:c.9854G>A	ENSP00000514856.2:p.Arg3285Lys
ENST00000700202.1:c.2321G>A	ENSP00000514856.1:p.Arg774Lys
ENST00000700203.1:n.2032G>A
ENST00000380152.8:c.9905G>A MANE Select	ENSP00000369497.3:p.Arg3302Lys
ENST00000544455.6:c.9905G>A	ENSP00000439902.1:p.Arg3302Lys
ENST00000614259.2:c.9913G>A	ENSP00000506251.1:n.9913G>A
ENST00000680887.1:c.9905G>A	ENSP00000505508.1:p.Arg3302Lys
ENST00000380152.7:c.9905G>A	ENSP00000369497.3:p.Arg3302Lys
ENST00000533776.1:n.493G>A
ENST00000544455.5:c.9905G>A	ENSP00000439902.1:p.Arg3302Lys
NM_000059.3:c.9905G>A , LRG_293t1:c.9905G>A	NP_000050.2:p.Arg3302Lys
XM_011535203.1:c.9905G>A	XP_011533505.1:p.Arg3302Lys
XM_011535204.1:c.9809G>A	XP_011533506.1:p.Arg3270Lys
NM_000059.4:c.9905G>A MANE Select	NP_000050.3:p.Arg3302Lys