Canonical Allele Identifier: CA026330

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182269
• ClinVar RCV Id: RCV000160180 ; RCV000773221 ; RCV003529997 ; RCV003998457
• dbSNP Id: rs730881577
• gnomAD v4: 13-32398427-G-A
• MyVariant Identifiers: chr13:g.32972564G>A (hg19) ; chr13:g.32398427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398427G>A , CM000675.2:g.32398427G>A	GRCh38
NC_000013.10:g.32972564G>A , CM000675.1:g.32972564G>A	GRCh37
NC_000013.9:g.31870564G>A	NCBI36
NG_012772.3:g.87948G>A , LRG_293:g.87948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*437G>A	ENSP00000434898.2:n.*437G>A
ENST00000528762.2:c.*1281G>A	ENSP00000433168.2:n.*1281G>A
ENST00000530893.7:c.9545G>A	ENSP00000499438.2:p.Gly3182Asp
ENST00000665585.2:c.*1476G>A	ENSP00000499570.2:n.*1476G>A
ENST00000700202.2:c.9863G>A	ENSP00000514856.2:p.Gly3288Asp
ENST00000700202.1:c.2330G>A	ENSP00000514856.1:p.Gly777Asp
ENST00000700203.1:n.2041G>A
ENST00000380152.8:c.9914G>A MANE Select	ENSP00000369497.3:p.Gly3305Asp
ENST00000544455.6:c.9914G>A	ENSP00000439902.1:p.Gly3305Asp
ENST00000614259.2:c.9922G>A	ENSP00000506251.1:n.9922G>A
ENST00000680887.1:c.9914G>A	ENSP00000505508.1:p.Gly3305Asp
ENST00000380152.7:c.9914G>A	ENSP00000369497.3:p.Gly3305Asp
ENST00000533776.1:n.502G>A
ENST00000544455.5:c.9914G>A	ENSP00000439902.1:p.Gly3305Asp
NM_000059.3:c.9914G>A , LRG_293t1:c.9914G>A	NP_000050.2:p.Gly3305Asp
XM_011535203.1:c.9914G>A	XP_011533505.1:p.Gly3305Asp
XM_011535204.1:c.9818G>A	XP_011533506.1:p.Gly3273Asp
NM_000059.4:c.9914G>A MANE Select	NP_000050.3:p.Gly3305Asp