Canonical Allele Identifier: CA387766929

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 483056
• ClinVar RCV Id: RCV000563400 ; RCV001309306
• dbSNP Id: rs1555289999
• MyVariant Identifiers: chr13:g.32972552C>G (hg19) ; chr13:g.32398415C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398415C>G , CM000675.2:g.32398415C>G	GRCh38
NC_000013.10:g.32972552C>G , CM000675.1:g.32972552C>G	GRCh37
NC_000013.9:g.31870552C>G	NCBI36
NG_012772.3:g.87936C>G , LRG_293:g.87936C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*425C>G	ENSP00000434898.2:n.*425C>G
ENST00000528762.2:c.*1269C>G	ENSP00000433168.2:n.*1269C>G
ENST00000530893.7:c.9533C>G	ENSP00000499438.2:p.Pro3178Arg
ENST00000665585.2:c.*1464C>G	ENSP00000499570.2:n.*1464C>G
ENST00000700202.2:c.9851C>G	ENSP00000514856.2:p.Pro3284Arg
ENST00000700202.1:c.2318C>G	ENSP00000514856.1:p.Pro773Arg
ENST00000700203.1:n.2029C>G
ENST00000380152.8:c.9902C>G MANE Select	ENSP00000369497.3:p.Pro3301Arg
ENST00000544455.6:c.9902C>G	ENSP00000439902.1:p.Pro3301Arg
ENST00000614259.2:c.9910C>G	ENSP00000506251.1:n.9910C>G
ENST00000680887.1:c.9902C>G	ENSP00000505508.1:p.Pro3301Arg
ENST00000380152.7:c.9902C>G	ENSP00000369497.3:p.Pro3301Arg
ENST00000533776.1:n.490C>G
ENST00000544455.5:c.9902C>G	ENSP00000439902.1:p.Pro3301Arg
NM_000059.3:c.9902C>G , LRG_293t1:c.9902C>G	NP_000050.2:p.Pro3301Arg
XM_011535203.1:c.9902C>G	XP_011533505.1:p.Pro3301Arg
XM_011535204.1:c.9806C>G	XP_011533506.1:p.Pro3269Arg
NM_000059.4:c.9902C>G MANE Select	NP_000050.3:p.Pro3301Arg