Canonical Allele Identifier: CA024701

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52237
• ClinVar RCV Id: RCV000509748 ; RCV000258405 ; RCV001171443 ; RCV001386967
• dbSNP Id: rs397507891
• gnomAD v4: 13-32346897-G-C
• MyVariant Identifiers: chr13:g.32921034G>C (hg19) ; chr13:g.32346897G>C (hg38)
• PubMed: PMID:21394826 ; PMID:21990134 ; PMID:22505045

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32346897G>C , CM000675.2:g.32346897G>C	GRCh38
NC_000013.10:g.32921034G>C , CM000675.1:g.32921034G>C	GRCh37
NC_000013.9:g.31819034G>C	NCBI36
NG_012772.3:g.36418G>C , LRG_293:g.36418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7007+1G>C	ENSP00000434898.2:n.7007+1G>C
ENST00000528762.2:c.7007+1G>C	ENSP00000433168.2:n.7007+1G>C
ENST00000530893.7:c.6638+1G>C	ENSP00000499438.2:n.6638+1G>C
ENST00000665585.2:c.7007+1G>C	ENSP00000499570.2:n.7007+1G>C
ENST00000666593.2:c.7007+1G>C	ENSP00000499256.2:n.7007+1G>C
ENST00000700202.2:c.7007+1G>C	ENSP00000514856.2:n.7007+1G>C
ENST00000380152.8:c.7007+1G>C MANE Select	ENSP00000369497.3:n.7007+1G>C
ENST00000544455.6:c.7007+1G>C	ENSP00000439902.1:n.7007+1G>C
ENST00000614259.2:c.7007+1G>C	ENSP00000506251.1:n.7007+1G>C
ENST00000680887.1:c.7007+1G>C	ENSP00000505508.1:n.7007+1G>C
ENST00000380152.7:c.7007+1G>C	ENSP00000369497.3:n.7007+1G>C
ENST00000544455.5:c.7007+1G>C	ENSP00000439902.1:n.7007+1G>C
ENST00000614259.1:n.7007+1G>C
NM_000059.3:c.7007+1G>C , LRG_293t1:c.7007+1G>C	NP_000050.2:n.7007+1G>C
XM_011535203.1:c.7007+1G>C	XP_011533505.1:n.7007+1G>C
XM_011535204.1:c.6911+1G>C	XP_011533506.1:n.6911+1G>C
XM_011535205.1:c.7007+1G>C	XP_011533507.1:n.7007+1G>C
NM_000059.4:c.7007+1G>C MANE Select	NP_000050.3:n.7007+1G>C