Canonical Allele Identifier: CA025300

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52423
• ClinVar RCV Id: RCV000113831 ; RCV000500087 ; RCV001176367 ; RCV001353930
• dbSNP Id: rs80359009
• gnomAD v4: 13-32362543-G-A
• MyVariant Identifiers: chr13:g.32936680G>A (hg19) ; chr13:g.32362543G>A (hg38)
• PubMed: PMID:17899372 ; PMID:19043619 ; PMID:21990134 ; PMID:23108138

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362543G>A , CM000675.2:g.32362543G>A	GRCh38
NC_000013.10:g.32936680G>A , CM000675.1:g.32936680G>A	GRCh37
NC_000013.9:g.31834680G>A	NCBI36
NG_012772.3:g.52064G>A , LRG_293:g.52064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7826G>A	ENSP00000434898.2:p.Gly2609Asp
ENST00000528762.2:c.7826G>A	ENSP00000433168.2:p.Gly2609Asp
ENST00000530893.7:c.7457G>A	ENSP00000499438.2:p.Gly2486Asp
ENST00000665585.2:c.7826G>A	ENSP00000499570.2:p.Gly2609Asp
ENST00000666593.2:c.7826G>A	ENSP00000499256.2:p.Gly2609Asp
ENST00000700202.2:c.7826G>A	ENSP00000514856.2:p.Gly2609Asp
ENST00000700202.1:c.293G>A	ENSP00000514856.1:p.Gly98Asp
ENST00000380152.8:c.7826G>A MANE Select	ENSP00000369497.3:p.Gly2609Asp
ENST00000544455.6:c.7826G>A	ENSP00000439902.1:p.Gly2609Asp
ENST00000614259.2:c.7834G>A	ENSP00000506251.1:p.Val2612Met
ENST00000665585.1:c.391G>A
ENST00000680887.1:c.7826G>A	ENSP00000505508.1:p.Gly2609Asp
ENST00000380152.7:c.7826G>A	ENSP00000369497.3:p.Gly2609Asp
ENST00000544455.5:c.7826G>A	ENSP00000439902.1:p.Gly2609Asp
ENST00000614259.1:n.7834G>A
NM_000059.3:c.7826G>A , LRG_293t1:c.7826G>A	NP_000050.2:p.Gly2609Asp
XM_011535203.1:c.7826G>A	XP_011533505.1:p.Gly2609Asp
XM_011535204.1:c.7730G>A	XP_011533506.1:p.Gly2577Asp
XM_011535205.1:c.7826G>A	XP_011533507.1:p.Gly2609Asp
NM_000059.4:c.7826G>A MANE Select	NP_000050.3:p.Gly2609Asp