Canonical Allele Identifier: CA026314

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 133740
• ClinVar RCV Id: RCV000120376 ; RCV001854599
• dbSNP Id: rs587778127
• MyVariant Identifiers: chr13:g.32972503C>A (hg19) ; chr13:g.32398366C>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398366C>A , CM000675.2:g.32398366C>A	GRCh38
NC_000013.10:g.32972503C>A , CM000675.1:g.32972503C>A	GRCh37
NC_000013.9:g.31870503C>A	NCBI36
NG_012772.3:g.87887C>A , LRG_293:g.87887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*376C>A	ENSP00000434898.2:n.*376C>A
ENST00000528762.2:c.*1220C>A	ENSP00000433168.2:n.*1220C>A
ENST00000530893.7:c.9484C>A	ENSP00000499438.2:p.Pro3162Thr
ENST00000665585.2:c.*1415C>A	ENSP00000499570.2:n.*1415C>A
ENST00000700202.2:c.9802C>A	ENSP00000514856.2:p.Pro3268Thr
ENST00000700202.1:c.2269C>A	ENSP00000514856.1:p.Pro757Thr
ENST00000700203.1:n.1980C>A
ENST00000380152.8:c.9853C>A MANE Select	ENSP00000369497.3:p.Pro3285Thr
ENST00000544455.6:c.9853C>A	ENSP00000439902.1:p.Pro3285Thr
ENST00000614259.2:c.9861C>A	ENSP00000506251.1:n.9861C>A
ENST00000680887.1:c.9853C>A	ENSP00000505508.1:p.Pro3285Thr
ENST00000380152.7:c.9853C>A	ENSP00000369497.3:p.Pro3285Thr
ENST00000533776.1:n.441C>A
ENST00000544455.5:c.9853C>A	ENSP00000439902.1:p.Pro3285Thr
NM_000059.3:c.9853C>A , LRG_293t1:c.9853C>A	NP_000050.2:p.Pro3285Thr
XM_011535203.1:c.9853C>A	XP_011533505.1:p.Pro3285Thr
XM_011535204.1:c.9757C>A	XP_011533506.1:p.Pro3253Thr
NM_000059.4:c.9853C>A MANE Select	NP_000050.3:p.Pro3285Thr