Canonical Allele Identifier: CA387767656

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 441460
• ClinVar RCV Id: RCV000509922 ; RCV002527394 ; RCV003464100 ; RCV004003580
• dbSNP Id: rs1555290016
• COSMIC: COSM4573172 ; COSM4573173
• MyVariant Identifiers: chr13:g.32972648T>C (hg19) ; chr13:g.32398511T>C (hg38)
• PubMed: PMID:25303977 ; PMID:25451944

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398511T>C , CM000675.2:g.32398511T>C	GRCh38
NC_000013.10:g.32972648T>C , CM000675.1:g.32972648T>C	GRCh37
NC_000013.9:g.31870648T>C	NCBI36
NG_012772.3:g.88032T>C , LRG_293:g.88032T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*521T>C	ENSP00000434898.2:n.*521T>C
ENST00000528762.2:c.*1365T>C	ENSP00000433168.2:n.*1365T>C
ENST00000530893.7:c.9629T>C	ENSP00000499438.2:p.Leu3210Pro
ENST00000665585.2:c.*1560T>C	ENSP00000499570.2:n.*1560T>C
ENST00000700202.2:c.9947T>C	ENSP00000514856.2:p.Leu3316Pro
ENST00000700202.1:c.2414T>C	ENSP00000514856.1:p.Leu805Pro
ENST00000700203.1:n.2125T>C
ENST00000380152.8:c.9998T>C MANE Select	ENSP00000369497.3:p.Leu3333Pro
ENST00000544455.6:c.9998T>C	ENSP00000439902.1:p.Leu3333Pro
ENST00000614259.2:c.10006T>C	ENSP00000506251.1:n.10006T>C
ENST00000680887.1:c.9998T>C	ENSP00000505508.1:p.Leu3333Pro
ENST00000380152.7:c.9998T>C	ENSP00000369497.3:p.Leu3333Pro
ENST00000544455.5:c.9998T>C	ENSP00000439902.1:p.Leu3333Pro
NM_000059.3:c.9998T>C , LRG_293t1:c.9998T>C	NP_000050.2:p.Leu3333Pro
XM_011535203.1:c.9998T>C	XP_011533505.1:p.Leu3333Pro
XM_011535204.1:c.9902T>C	XP_011533506.1:p.Leu3301Pro
NM_000059.4:c.9998T>C MANE Select	NP_000050.3:p.Leu3333Pro