Canonical Allele Identifier: CA483440019

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 792488
• ClinVar RCV Id: RCV000975591
• dbSNP Id: rs1593202069
• gnomAD v2: 13-32972589-G-A
• MyVariant Identifiers: chr13:g.32972589G>A (hg19) ; chr13:g.32972589_32972590delinsAA (hg19) ; chr13:g.32398452_32398453delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398452G>A , CM000675.2:g.32398452G>A	GRCh38
NC_000013.10:g.32972589G>A , CM000675.1:g.32972589G>A	GRCh37
NC_000013.9:g.31870589G>A	NCBI36
NG_012772.3:g.87973G>A , LRG_293:g.87973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*462G>A	ENSP00000434898.2:n.*462G>A
ENST00000528762.2:c.*1306G>A	ENSP00000433168.2:n.*1306G>A
ENST00000530893.7:c.9570G>A	ENSP00000499438.2:p.Lys3190=
ENST00000665585.2:c.*1501G>A	ENSP00000499570.2:n.*1501G>A
ENST00000700202.2:c.9888G>A	ENSP00000514856.2:p.Lys3296=
ENST00000700202.1:c.2355G>A	ENSP00000514856.1:p.Lys785=
ENST00000700203.1:n.2066G>A
ENST00000380152.8:c.9939G>A MANE Select	ENSP00000369497.3:p.Lys3313=
ENST00000544455.6:c.9939G>A	ENSP00000439902.1:p.Lys3313=
ENST00000614259.2:c.9947G>A	ENSP00000506251.1:n.9947G>A
ENST00000680887.1:c.9939G>A	ENSP00000505508.1:p.Lys3313=
ENST00000380152.7:c.9939G>A	ENSP00000369497.3:p.Lys3313=
ENST00000544455.5:c.9939G>A	ENSP00000439902.1:p.Lys3313=
NM_000059.3:c.9939G>A , LRG_293t1:c.9939G>A	NP_000050.2:p.Lys3313=
XM_011535203.1:c.9939G>A	XP_011533505.1:p.Lys3313=
XM_011535204.1:c.9843G>A	XP_011533506.1:p.Lys3281=
NM_000059.4:c.9939G>A MANE Select	NP_000050.3:p.Lys3313=