Canonical Allele Identifier: CA387765762

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 948398
• ClinVar RCV Id: RCV001219645
• dbSNP Id: rs2073050661
• MyVariant Identifiers: chr13:g.32972414G>A (hg19) ; chr13:g.32398277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398277G>A , CM000675.2:g.32398277G>A	GRCh38
NC_000013.10:g.32972414G>A , CM000675.1:g.32972414G>A	GRCh37
NC_000013.9:g.31870414G>A	NCBI36
NG_012772.3:g.87798G>A , LRG_293:g.87798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*287G>A	ENSP00000434898.2:n.*287G>A
ENST00000528762.2:c.*1131G>A	ENSP00000433168.2:n.*1131G>A
ENST00000530893.7:c.9395G>A	ENSP00000499438.2:p.Gly3132Glu
ENST00000665585.2:c.*1326G>A	ENSP00000499570.2:n.*1326G>A
ENST00000700202.2:c.9713G>A	ENSP00000514856.2:p.Gly3238Glu
ENST00000700202.1:c.2180G>A	ENSP00000514856.1:p.Gly727Glu
ENST00000700203.1:n.1891G>A
ENST00000380152.8:c.9764G>A MANE Select	ENSP00000369497.3:p.Gly3255Glu
ENST00000544455.6:c.9764G>A	ENSP00000439902.1:p.Gly3255Glu
ENST00000614259.2:c.9772G>A	ENSP00000506251.1:n.9772G>A
ENST00000680887.1:c.9764G>A	ENSP00000505508.1:p.Gly3255Glu
ENST00000380152.7:c.9764G>A	ENSP00000369497.3:p.Gly3255Glu
ENST00000533776.1:n.352G>A
ENST00000544455.5:c.9764G>A	ENSP00000439902.1:p.Gly3255Glu
NM_000059.3:c.9764G>A , LRG_293t1:c.9764G>A	NP_000050.2:p.Gly3255Glu
XM_011535203.1:c.9764G>A	XP_011533505.1:p.Gly3255Glu
XM_011535204.1:c.9668G>A	XP_011533506.1:p.Gly3223Glu
NM_000059.4:c.9764G>A MANE Select	NP_000050.3:p.Gly3255Glu