Canonical Allele Identifier: CA387766576

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2451480
• ClinVar RCV Id: RCV003182496
• dbSNP Id: rs2137664467
• MyVariant Identifiers: chr13:g.32972510G>A (hg19) ; chr13:g.32398373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398373G>A , CM000675.2:g.32398373G>A	GRCh38
NC_000013.10:g.32972510G>A , CM000675.1:g.32972510G>A	GRCh37
NC_000013.9:g.31870510G>A	NCBI36
NG_012772.3:g.87894G>A , LRG_293:g.87894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*383G>A	ENSP00000434898.2:n.*383G>A
ENST00000528762.2:c.*1227G>A	ENSP00000433168.2:n.*1227G>A
ENST00000530893.7:c.9491G>A	ENSP00000499438.2:p.Cys3164Tyr
ENST00000665585.2:c.*1422G>A	ENSP00000499570.2:n.*1422G>A
ENST00000700202.2:c.9809G>A	ENSP00000514856.2:p.Cys3270Tyr
ENST00000700202.1:c.2276G>A	ENSP00000514856.1:p.Cys759Tyr
ENST00000700203.1:n.1987G>A
ENST00000380152.8:c.9860G>A MANE Select	ENSP00000369497.3:p.Cys3287Tyr
ENST00000544455.6:c.9860G>A	ENSP00000439902.1:p.Cys3287Tyr
ENST00000614259.2:c.9868G>A	ENSP00000506251.1:n.9868G>A
ENST00000680887.1:c.9860G>A	ENSP00000505508.1:p.Cys3287Tyr
ENST00000380152.7:c.9860G>A	ENSP00000369497.3:p.Cys3287Tyr
ENST00000533776.1:n.448G>A
ENST00000544455.5:c.9860G>A	ENSP00000439902.1:p.Cys3287Tyr
NM_000059.3:c.9860G>A , LRG_293t1:c.9860G>A	NP_000050.2:p.Cys3287Tyr
XM_011535203.1:c.9860G>A	XP_011533505.1:p.Cys3287Tyr
XM_011535204.1:c.9764G>A	XP_011533506.1:p.Cys3255Tyr
NM_000059.4:c.9860G>A MANE Select	NP_000050.3:p.Cys3287Tyr