Canonical Allele Identifier: CA026248

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182265
• ClinVar RCV Id: RCV000160176 ; RCV000239346 ; RCV000817530 ; RCV002381526 ; RCV003474824
• dbSNP Id: rs730881573
• gnomAD v3: 13-32397045-G-C
• gnomAD v4: 13-32397045-G-C
• MyVariant Identifiers: chr13:g.32971182G>C (hg19) ; chr13:g.32397045G>C (hg38)
• PubMed: PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32397045G>C , CM000675.2:g.32397045G>C	GRCh38
NC_000013.10:g.32971182G>C , CM000675.1:g.32971182G>C	GRCh37
NC_000013.9:g.31869182G>C	NCBI36
NG_012772.3:g.86566G>C , LRG_293:g.86566G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*171+1G>C	ENSP00000434898.2:n.*171+1G>C
ENST00000528762.2:c.*1015+1G>C	ENSP00000433168.2:n.*1015+1G>C
ENST00000530893.7:c.9279+1G>C	ENSP00000499438.2:n.9279+1G>C
ENST00000665585.2:c.*1210+1G>C	ENSP00000499570.2:n.*1210+1G>C
ENST00000700202.2:c.9597+1G>C	ENSP00000514856.2:n.9597+1G>C
ENST00000700202.1:c.2064+1G>C	ENSP00000514856.1:n.2064+1G>C
ENST00000700203.1:n.1775+1G>C
ENST00000380152.8:c.9648+1G>C MANE Select	ENSP00000369497.3:n.9648+1G>C
ENST00000544455.6:c.9648+1G>C	ENSP00000439902.1:n.9648+1G>C
ENST00000614259.2:c.9656+1G>C	ENSP00000506251.1:n.9656+1G>C
ENST00000665585.1:c.2526+1G>C
ENST00000680887.1:c.9648+1G>C	ENSP00000505508.1:n.9648+1G>C
ENST00000380152.7:c.9648+1G>C	ENSP00000369497.3:n.9648+1G>C
ENST00000470094.1:c.731+1G>C
ENST00000533776.1:n.236+1G>C
ENST00000544455.5:c.9648+1G>C	ENSP00000439902.1:n.9648+1G>C
NM_000059.3:c.9648+1G>C , LRG_293t1:c.9648+1G>C	NP_000050.2:n.9648+1G>C
XM_011535203.1:c.9648+1G>C	XP_011533505.1:n.9648+1G>C
XM_011535204.1:c.9552+1G>C	XP_011533506.1:n.9552+1G>C
NM_000059.4:c.9648+1G>C MANE Select	NP_000050.3:n.9648+1G>C