Canonical Allele Identifier: CA026023

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52772
• ClinVar RCV Id: RCV000077462 ; RCV000130150 ; RCV000440778 ; RCV000590167 ; RCV001083475
• dbSNP Id: rs80359177
• ExAC: 13:32954216 G / A
• gnomAD v2: 13-32954216-G-A
• gnomAD v3: 13-32380079-G-A
• gnomAD v4: 13-32380079-G-A
• MyVariant Identifiers: chr13:g.32954216G>A (hg19) ; chr13:g.32380079G>A (hg38)
• PubMed: PMID:10923033 ; PMID:19043619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380079G>A , CM000675.2:g.32380079G>A	GRCh38
NC_000013.10:g.32954216G>A , CM000675.1:g.32954216G>A	GRCh37
NC_000013.9:g.31852216G>A	NCBI36
NG_012772.3:g.69600G>A , LRG_293:g.69600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9190G>A	ENSP00000434898.2:p.Asp3064Asn
ENST00000528762.2:c.*557G>A	ENSP00000433168.2:n.*557G>A
ENST00000530893.7:c.8821G>A	ENSP00000499438.2:p.Asp2941Asn
ENST00000665585.2:c.*752G>A	ENSP00000499570.2:n.*752G>A
ENST00000666593.2:c.9190G>A	ENSP00000499256.2:p.Asp3064Asn
ENST00000700202.2:c.9139G>A	ENSP00000514856.2:p.Asp3047Asn
ENST00000700202.1:c.1606G>A	ENSP00000514856.1:p.Asp536Asn
ENST00000700203.1:n.1317G>A
ENST00000380152.8:c.9190G>A MANE Select	ENSP00000369497.3:p.Asp3064Asn
ENST00000544455.6:c.9190G>A	ENSP00000439902.1:p.Asp3064Asn
ENST00000614259.2:c.9198G>A	ENSP00000506251.1:n.9198G>A
ENST00000665585.1:c.2068G>A
ENST00000666593.1:c.73G>A	ENSP00000499256.1:p.Asp25Asn
ENST00000680887.1:c.9190G>A	ENSP00000505508.1:p.Asp3064Asn
ENST00000380152.7:c.9190G>A	ENSP00000369497.3:p.Asp3064Asn
ENST00000470094.1:c.147G>A
ENST00000544455.5:c.9190G>A	ENSP00000439902.1:p.Asp3064Asn
NM_000059.3:c.9190G>A , LRG_293t1:c.9190G>A	NP_000050.2:p.Asp3064Asn
XM_011535203.1:c.9190G>A	XP_011533505.1:p.Asp3064Asn
XM_011535204.1:c.9094G>A	XP_011533506.1:p.Asp3032Asn
NM_000059.4:c.9190G>A MANE Select	NP_000050.3:p.Asp3064Asn