Canonical Allele Identifier: CA026259

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 96887
• ClinVar RCV Id: RCV000083008 ; RCV000468886 ; RCV000582783 ; RCV002281917
• dbSNP Id: rs431825379
• gnomAD v4: 13-32398164-G-A
• MyVariant Identifiers: chr13:g.32972301G>A (hg19) ; chr13:g.32398164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398164G>A , CM000675.2:g.32398164G>A	GRCh38
NC_000013.10:g.32972301G>A , CM000675.1:g.32972301G>A	GRCh37
NC_000013.9:g.31870301G>A	NCBI36
NG_012772.3:g.87685G>A , LRG_293:g.87685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*174G>A	ENSP00000434898.2:n.*174G>A
ENST00000528762.2:c.*1018G>A	ENSP00000433168.2:n.*1018G>A
ENST00000530893.7:c.9282G>A	ENSP00000499438.2:p.Met3094Ile
ENST00000665585.2:c.*1213G>A	ENSP00000499570.2:n.*1213G>A
ENST00000700202.2:c.9600G>A	ENSP00000514856.2:p.Met3200Ile
ENST00000700202.1:c.2067G>A	ENSP00000514856.1:p.Met689Ile
ENST00000700203.1:n.1778G>A
ENST00000380152.8:c.9651G>A MANE Select	ENSP00000369497.3:p.Met3217Ile
ENST00000544455.6:c.9651G>A	ENSP00000439902.1:p.Met3217Ile
ENST00000614259.2:c.9659G>A	ENSP00000506251.1:n.9659G>A
ENST00000665585.1:c.2529G>A
ENST00000680887.1:c.9651G>A	ENSP00000505508.1:p.Met3217Ile
ENST00000380152.7:c.9651G>A	ENSP00000369497.3:p.Met3217Ile
ENST00000470094.1:c.734G>A
ENST00000533776.1:n.239G>A
ENST00000544455.5:c.9651G>A	ENSP00000439902.1:p.Met3217Ile
NM_000059.3:c.9651G>A , LRG_293t1:c.9651G>A	NP_000050.2:p.Met3217Ile
XM_011535203.1:c.9651G>A	XP_011533505.1:p.Met3217Ile
XM_011535204.1:c.9555G>A	XP_011533506.1:p.Met3185Ile
NM_000059.4:c.9651G>A MANE Select	NP_000050.3:p.Met3217Ile