Canonical Allele Identifier: CA483440018

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359255
• MyVariant Identifiers: chr13:g.32972586A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398449A>T , CM000675.2:g.32398449A>T	GRCh38
NC_000013.10:g.32972586A>T , CM000675.1:g.32972586A>T	GRCh37
NC_000013.9:g.31870586A>T	NCBI36
NG_012772.3:g.87970A>T , LRG_293:g.87970A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*459A>T	ENSP00000434898.2:n.*459A>T
ENST00000528762.2:c.*1303A>T	ENSP00000433168.2:n.*1303A>T
ENST00000530893.7:c.9567A>T	ENSP00000499438.2:p.Ile3189=
ENST00000665585.2:c.*1498A>T	ENSP00000499570.2:n.*1498A>T
ENST00000700202.2:c.9885A>T	ENSP00000514856.2:p.Ile3295=
ENST00000700202.1:c.2352A>T	ENSP00000514856.1:p.Ile784=
ENST00000700203.1:n.2063A>T
ENST00000380152.8:c.9936A>T MANE Select	ENSP00000369497.3:p.Ile3312=
ENST00000544455.6:c.9936A>T	ENSP00000439902.1:p.Ile3312=
ENST00000614259.2:c.9944A>T	ENSP00000506251.1:n.9944A>T
ENST00000680887.1:c.9936A>T	ENSP00000505508.1:p.Ile3312=
ENST00000380152.7:c.9936A>T	ENSP00000369497.3:p.Ile3312=
ENST00000544455.5:c.9936A>T	ENSP00000439902.1:p.Ile3312=
NM_000059.3:c.9936A>T , LRG_293t1:c.9936A>T	NP_000050.2:p.Ile3312=
XM_011535203.1:c.9936A>T	XP_011533505.1:p.Ile3312=
XM_011535204.1:c.9840A>T	XP_011533506.1:p.Ile3280=
NM_000059.4:c.9936A>T MANE Select	NP_000050.3:p.Ile3312=