Canonical Allele Identifier: CA026053

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38224
• ClinVar RCV Id: RCV000031807 ; RCV000439515 ; RCV000557691 ; RCV000509957 ; RCV000587457 ; RCV004532468
• dbSNP Id: rs397507423
• ExAC: 13:32954279 A / C
• gnomAD v2: 13-32954279-A-C
• gnomAD v3: 13-32380142-A-C
• gnomAD v4: 13-32380142-A-C
• MyVariant Identifiers: chr13:g.32954279A>C (hg19) ; chr13:g.32380142A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380142A>C , CM000675.2:g.32380142A>C	GRCh38
NC_000013.10:g.32954279A>C , CM000675.1:g.32954279A>C	GRCh37
NC_000013.9:g.31852279A>C	NCBI36
NG_012772.3:g.69663A>C , LRG_293:g.69663A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9253A>C	ENSP00000434898.2:p.Thr3085Pro
ENST00000528762.2:c.*620A>C	ENSP00000433168.2:n.*620A>C
ENST00000530893.7:c.8884A>C	ENSP00000499438.2:p.Thr2962Pro
ENST00000665585.2:c.*815A>C	ENSP00000499570.2:n.*815A>C
ENST00000666593.2:c.9253A>C	ENSP00000499256.2:p.Thr3085Pro
ENST00000700202.2:c.9202A>C	ENSP00000514856.2:p.Thr3068Pro
ENST00000700202.1:c.1669A>C	ENSP00000514856.1:p.Thr557Pro
ENST00000700203.1:n.1380A>C
ENST00000380152.8:c.9253A>C MANE Select	ENSP00000369497.3:p.Thr3085Pro
ENST00000544455.6:c.9253A>C	ENSP00000439902.1:p.Thr3085Pro
ENST00000614259.2:c.9261A>C	ENSP00000506251.1:n.9261A>C
ENST00000665585.1:c.2131A>C
ENST00000666593.1:c.136A>C	ENSP00000499256.1:p.Thr46Pro
ENST00000680887.1:c.9253A>C	ENSP00000505508.1:p.Thr3085Pro
ENST00000380152.7:c.9253A>C	ENSP00000369497.3:p.Thr3085Pro
ENST00000470094.1:c.210A>C
ENST00000544455.5:c.9253A>C	ENSP00000439902.1:p.Thr3085Pro
NM_000059.3:c.9253A>C , LRG_293t1:c.9253A>C	NP_000050.2:p.Thr3085Pro
XM_011535203.1:c.9253A>C	XP_011533505.1:p.Thr3085Pro
XM_011535204.1:c.9157A>C	XP_011533506.1:p.Thr3053Pro
NM_000059.4:c.9253A>C MANE Select	NP_000050.3:p.Thr3085Pro