Canonical Allele Identifier: CA025782

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 184652
• ClinVar RCV Id: RCV000163941 ; RCV000200006 ; RCV000410727 ; RCV000588872 ; RCV001284589 ; RCV003491888
• dbSNP Id: rs556762256
• ExAC: 13:32950868 G / A
• gnomAD v2: 13-32950868-G-A
• gnomAD v3: 13-32376731-G-A
• gnomAD v4: 13-32376731-G-A
• MyVariant Identifiers: chr13:g.32950868G>A (hg19) ; chr13:g.32376731G>A (hg38)
• PubMed: PMID:20167696

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376731G>A , CM000675.2:g.32376731G>A	GRCh38
NC_000013.10:g.32950868G>A , CM000675.1:g.32950868G>A	GRCh37
NC_000013.9:g.31848868G>A	NCBI36
NG_012772.3:g.66252G>A , LRG_293:g.66252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8694G>A	ENSP00000434898.2:p.Leu2898=
ENST00000528762.2:c.*61G>A	ENSP00000433168.2:n.*61G>A
ENST00000530893.7:c.8325G>A	ENSP00000499438.2:p.Leu2775=
ENST00000665585.2:c.*256G>A	ENSP00000499570.2:n.*256G>A
ENST00000666593.2:c.8694G>A	ENSP00000499256.2:p.Leu2898=
ENST00000700202.2:c.8694G>A	ENSP00000514856.2:p.Leu2898=
ENST00000700202.1:c.1161G>A	ENSP00000514856.1:p.Leu387=
ENST00000700203.1:n.821G>A
ENST00000380152.8:c.8694G>A MANE Select	ENSP00000369497.3:p.Leu2898=
ENST00000544455.6:c.8694G>A	ENSP00000439902.1:p.Leu2898=
ENST00000614259.2:c.8702G>A	ENSP00000506251.1:n.8702G>A
ENST00000665585.1:c.1572G>A
ENST00000680887.1:c.8694G>A	ENSP00000505508.1:p.Leu2898=
ENST00000380152.7:c.8694G>A	ENSP00000369497.3:p.Leu2898=
ENST00000528762.1:c.256G>A	ENSP00000433168.1:n.256G>A
ENST00000544455.5:c.8694G>A	ENSP00000439902.1:p.Leu2898=
NM_000059.3:c.8694G>A , LRG_293t1:c.8694G>A	NP_000050.2:p.Leu2898=
XM_011535203.1:c.8694G>A	XP_011533505.1:p.Leu2898=
XM_011535204.1:c.8598G>A	XP_011533506.1:p.Leu2866=
XM_011535205.1:c.8694G>A	XP_011533507.1:p.Leu2898=
NM_000059.4:c.8694G>A MANE Select	NP_000050.3:p.Leu2898=