Canonical Allele Identifier: CA017293

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51404
• ClinVar RCV Id: RCV000113139 ; RCV001366576 ; RCV003156757
• dbSNP Id: rs80358560
• gnomAD v4: 13-32337497-G-A
• MyVariant Identifiers: chr13:g.32911634G>A (hg19) ; chr13:g.32337497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337497G>A , CM000675.2:g.32337497G>A	GRCh38
NC_000013.10:g.32911634G>A , CM000675.1:g.32911634G>A	GRCh37
NC_000013.9:g.31809634G>A	NCBI36
NG_012772.3:g.27018G>A , LRG_293:g.27018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3142G>A	ENSP00000434898.2:p.Val1048Ile
ENST00000528762.2:c.3142G>A	ENSP00000433168.2:p.Val1048Ile
ENST00000530893.7:c.2773G>A	ENSP00000499438.2:p.Val925Ile
ENST00000665585.2:c.3142G>A	ENSP00000499570.2:p.Val1048Ile
ENST00000666593.2:c.3142G>A	ENSP00000499256.2:p.Val1048Ile
ENST00000700202.2:c.3142G>A	ENSP00000514856.2:p.Val1048Ile
ENST00000380152.8:c.3142G>A MANE Select	ENSP00000369497.3:p.Val1048Ile
ENST00000544455.6:c.3142G>A	ENSP00000439902.1:p.Val1048Ile
ENST00000614259.2:c.3142G>A	ENSP00000506251.1:p.Val1048Ile
ENST00000680887.1:c.3142G>A	ENSP00000505508.1:p.Val1048Ile
ENST00000380152.7:c.3142G>A	ENSP00000369497.3:p.Val1048Ile
ENST00000544455.5:c.3142G>A	ENSP00000439902.1:p.Val1048Ile
ENST00000614259.1:n.3142G>A
NM_000059.3:c.3142G>A , LRG_293t1:c.3142G>A	NP_000050.2:p.Val1048Ile
XM_011535203.1:c.3142G>A	XP_011533505.1:p.Val1048Ile
XM_011535204.1:c.3142G>A	XP_011533506.1:p.Val1048Ile
XM_011535205.1:c.3142G>A	XP_011533507.1:p.Val1048Ile
NM_000059.4:c.3142G>A MANE Select	NP_000050.3:p.Val1048Ile