Canonical Allele Identifier: CA483440073

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137667958
• MyVariant Identifiers: chr13:g.32972886T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398749T>A , CM000675.2:g.32398749T>A	GRCh38
NC_000013.10:g.32972886T>A , CM000675.1:g.32972886T>A	GRCh37
NC_000013.9:g.31870886T>A	NCBI36
NG_012772.3:g.88270T>A , LRG_293:g.88270T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*759T>A	ENSP00000434898.2:n.*759T>A
ENST00000528762.2:c.*1603T>A	ENSP00000433168.2:n.*1603T>A
ENST00000530893.7:c.9867T>A	ENSP00000499438.2:p.Ile3289=
ENST00000665585.2:c.*1798T>A	ENSP00000499570.2:n.*1798T>A
ENST00000700202.2:c.10185T>A	ENSP00000514856.2:p.Ile3395=
ENST00000700202.1:c.2652T>A	ENSP00000514856.1:p.Ile884=
ENST00000700203.1:n.2363T>A
ENST00000380152.8:c.10236T>A MANE Select	ENSP00000369497.3:p.Ile3412=
ENST00000544455.6:c.10236T>A	ENSP00000439902.1:p.Ile3412=
ENST00000614259.2:c.10244T>A	ENSP00000506251.1:n.10244T>A
ENST00000680887.1:c.10236T>A	ENSP00000505508.1:p.Ile3412=
ENST00000380152.7:c.10236T>A	ENSP00000369497.3:p.Ile3412=
ENST00000544455.5:c.10236T>A	ENSP00000439902.1:p.Ile3412=
NM_000059.3:c.10236T>A , LRG_293t1:c.10236T>A	NP_000050.2:p.Ile3412=
XM_011535203.1:c.10236T>A	XP_011533505.1:p.Ile3412=
XM_011535204.1:c.10140T>A	XP_011533506.1:p.Ile3380=
NM_000059.4:c.10236T>A MANE Select	NP_000050.3:p.Ile3412=