Canonical Allele Identifier: CA026334

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52918
• ClinVar RCV Id: RCV000112824 ; RCV000120378 ; RCV000130750 ; RCV000195387 ; RCV001080047 ; RCV004537218
• dbSNP Id: rs80359251
• ExAC: 13:32972575 G / A
• gnomAD v2: 13-32972575-G-A
• gnomAD v3: 13-32398438-G-A
• gnomAD v4: 13-32398438-G-A
• MyVariant Identifiers: chr13:g.32972575G>A (hg19) ; chr13:g.32398438G>A (hg38)
• PubMed: PMID:10923033 ; PMID:24728327 ; PMID:25451944 ; PMID:26287763 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398438G>A , CM000675.2:g.32398438G>A	GRCh38
NC_000013.10:g.32972575G>A , CM000675.1:g.32972575G>A	GRCh37
NC_000013.9:g.31870575G>A	NCBI36
NG_012772.3:g.87959G>A , LRG_293:g.87959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*448G>A	ENSP00000434898.2:n.*448G>A
ENST00000528762.2:c.*1292G>A	ENSP00000433168.2:n.*1292G>A
ENST00000530893.7:c.9556G>A	ENSP00000499438.2:p.Glu3186Lys
ENST00000665585.2:c.*1487G>A	ENSP00000499570.2:n.*1487G>A
ENST00000700202.2:c.9874G>A	ENSP00000514856.2:p.Glu3292Lys
ENST00000700202.1:c.2341G>A	ENSP00000514856.1:p.Glu781Lys
ENST00000700203.1:n.2052G>A
ENST00000380152.8:c.9925G>A MANE Select	ENSP00000369497.3:p.Glu3309Lys
ENST00000544455.6:c.9925G>A	ENSP00000439902.1:p.Glu3309Lys
ENST00000614259.2:c.9933G>A	ENSP00000506251.1:n.9933G>A
ENST00000680887.1:c.9925G>A	ENSP00000505508.1:p.Glu3309Lys
ENST00000380152.7:c.9925G>A	ENSP00000369497.3:p.Glu3309Lys
ENST00000533776.1:n.513G>A
ENST00000544455.5:c.9925G>A	ENSP00000439902.1:p.Glu3309Lys
NM_000059.3:c.9925G>A , LRG_293t1:c.9925G>A	NP_000050.2:p.Glu3309Lys
XM_011535203.1:c.9925G>A	XP_011533505.1:p.Glu3309Lys
XM_011535204.1:c.9829G>A	XP_011533506.1:p.Glu3277Lys
NM_000059.4:c.9925G>A MANE Select	NP_000050.3:p.Glu3309Lys