Canonical Allele Identifier: CA387766885

Gene: BRCA2

Linked Data

• dbSNP Id: rs398122625
• MyVariant Identifiers: chr13:g.32972546A>G (hg19) ; chr13:g.32398409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398409A>G , CM000675.2:g.32398409A>G	GRCh38
NC_000013.10:g.32972546A>G , CM000675.1:g.32972546A>G	GRCh37
NC_000013.9:g.31870546A>G	NCBI36
NG_012772.3:g.87930A>G , LRG_293:g.87930A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*419A>G	ENSP00000434898.2:n.*419A>G
ENST00000528762.2:c.*1263A>G	ENSP00000433168.2:n.*1263A>G
ENST00000530893.7:c.9527A>G	ENSP00000499438.2:p.Gln3176Arg
ENST00000665585.2:c.*1458A>G	ENSP00000499570.2:n.*1458A>G
ENST00000700202.2:c.9845A>G	ENSP00000514856.2:p.Gln3282Arg
ENST00000700202.1:c.2312A>G	ENSP00000514856.1:p.Gln771Arg
ENST00000700203.1:n.2023A>G
ENST00000380152.8:c.9896A>G MANE Select	ENSP00000369497.3:p.Gln3299Arg
ENST00000544455.6:c.9896A>G	ENSP00000439902.1:p.Gln3299Arg
ENST00000614259.2:c.9904A>G	ENSP00000506251.1:n.9904A>G
ENST00000680887.1:c.9896A>G	ENSP00000505508.1:p.Gln3299Arg
ENST00000380152.7:c.9896A>G	ENSP00000369497.3:p.Gln3299Arg
ENST00000533776.1:n.484A>G
ENST00000544455.5:c.9896A>G	ENSP00000439902.1:p.Gln3299Arg
NM_000059.3:c.9896A>G , LRG_293t1:c.9896A>G	NP_000050.2:p.Gln3299Arg
XM_011535203.1:c.9896A>G	XP_011533505.1:p.Gln3299Arg
XM_011535204.1:c.9800A>G	XP_011533506.1:p.Gln3267Arg
NM_000059.4:c.9896A>G MANE Select	NP_000050.3:p.Gln3299Arg