Canonical Allele Identifier: CA387767673

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1318631
• ClinVar RCV Id: RCV001768255
• dbSNP Id: rs2137665680
• MyVariant Identifiers: chr13:g.32972653G>A (hg19) ; chr13:g.32398516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398516G>A , CM000675.2:g.32398516G>A	GRCh38
NC_000013.10:g.32972653G>A , CM000675.1:g.32972653G>A	GRCh37
NC_000013.9:g.31870653G>A	NCBI36
NG_012772.3:g.88037G>A , LRG_293:g.88037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*526G>A	ENSP00000434898.2:n.*526G>A
ENST00000528762.2:c.*1370G>A	ENSP00000433168.2:n.*1370G>A
ENST00000530893.7:c.9634G>A	ENSP00000499438.2:p.Glu3212Lys
ENST00000665585.2:c.*1565G>A	ENSP00000499570.2:n.*1565G>A
ENST00000700202.2:c.9952G>A	ENSP00000514856.2:p.Glu3318Lys
ENST00000700202.1:c.2419G>A	ENSP00000514856.1:p.Glu807Lys
ENST00000700203.1:n.2130G>A
ENST00000380152.8:c.10003G>A MANE Select	ENSP00000369497.3:p.Glu3335Lys
ENST00000544455.6:c.10003G>A	ENSP00000439902.1:p.Glu3335Lys
ENST00000614259.2:c.10011G>A	ENSP00000506251.1:n.10011G>A
ENST00000680887.1:c.10003G>A	ENSP00000505508.1:p.Glu3335Lys
ENST00000380152.7:c.10003G>A	ENSP00000369497.3:p.Glu3335Lys
ENST00000544455.5:c.10003G>A	ENSP00000439902.1:p.Glu3335Lys
NM_000059.3:c.10003G>A , LRG_293t1:c.10003G>A	NP_000050.2:p.Glu3335Lys
XM_011535203.1:c.10003G>A	XP_011533505.1:p.Glu3335Lys
XM_011535204.1:c.9907G>A	XP_011533506.1:p.Glu3303Lys
NM_000059.4:c.10003G>A MANE Select	NP_000050.3:p.Glu3335Lys