Canonical Allele Identifier: CA025613

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52569
• ClinVar RCV Id: RCV000045499 ; RCV000074556 ; RCV000077437 ; RCV000131353 ; RCV000496849 ; RCV003473420
• dbSNP Id: rs80359082
• ExAC: 13:32944584 G / A
• gnomAD v2: 13-32944584-G-A
• gnomAD v4: 13-32370447-G-A
• MyVariant Identifiers: chr13:g.32944584G>A (hg19) ; chr13:g.32370447G>A (hg38)
• PubMed: PMID:10923033 ; PMID:12442275 ; PMID:15889636 ; PMID:19043619 ; PMID:22632462 ; PMID:23108138 ; PMID:23233716 ; PMID:25085752 ; PMID:25777348

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370447G>A , CM000675.2:g.32370447G>A	GRCh38
NC_000013.10:g.32944584G>A , CM000675.1:g.32944584G>A	GRCh37
NC_000013.9:g.31842584G>A	NCBI36
NG_012772.3:g.59968G>A , LRG_293:g.59968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8377G>A	ENSP00000434898.2:p.Gly2793Arg
ENST00000528762.2:c.8377G>A	ENSP00000433168.2:p.Gly2793Arg
ENST00000530893.7:c.8008G>A	ENSP00000499438.2:p.Gly2670Arg
ENST00000665585.2:c.8377G>A	ENSP00000499570.2:p.Gly2793Arg
ENST00000666593.2:c.8377G>A	ENSP00000499256.2:p.Gly2793Arg
ENST00000700202.2:c.8377G>A	ENSP00000514856.2:p.Gly2793Arg
ENST00000700202.1:c.844G>A	ENSP00000514856.1:p.Gly282Arg
ENST00000380152.8:c.8377G>A MANE Select	ENSP00000369497.3:p.Gly2793Arg
ENST00000544455.6:c.8377G>A	ENSP00000439902.1:p.Gly2793Arg
ENST00000614259.2:c.8385G>A	ENSP00000506251.1:n.8385G>A
ENST00000665585.1:c.942G>A
ENST00000680887.1:c.8377G>A	ENSP00000505508.1:p.Gly2793Arg
ENST00000380152.7:c.8377G>A	ENSP00000369497.3:p.Gly2793Arg
ENST00000544455.5:c.8377G>A	ENSP00000439902.1:p.Gly2793Arg
NM_000059.3:c.8377G>A , LRG_293t1:c.8377G>A	NP_000050.2:p.Gly2793Arg
XM_011535203.1:c.8377G>A	XP_011533505.1:p.Gly2793Arg
XM_011535204.1:c.8281G>A	XP_011533506.1:p.Gly2761Arg
XM_011535205.1:c.8377G>A	XP_011533507.1:p.Gly2793Arg
NM_000059.4:c.8377G>A MANE Select	NP_000050.3:p.Gly2793Arg