Canonical Allele Identifier: CA483440450

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972721A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398584A>C , CM000675.2:g.32398584A>C	GRCh38
NC_000013.10:g.32972721A>C , CM000675.1:g.32972721A>C	GRCh37
NC_000013.9:g.31870721A>C	NCBI36
NG_012772.3:g.88105A>C , LRG_293:g.88105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*594A>C	ENSP00000434898.2:n.*594A>C
ENST00000528762.2:c.*1438A>C	ENSP00000433168.2:n.*1438A>C
ENST00000530893.7:c.9702A>C	ENSP00000499438.2:p.Thr3234=
ENST00000665585.2:c.*1633A>C	ENSP00000499570.2:n.*1633A>C
ENST00000700202.2:c.10020A>C	ENSP00000514856.2:p.Thr3340=
ENST00000700202.1:c.2487A>C	ENSP00000514856.1:p.Thr829=
ENST00000700203.1:n.2198A>C
ENST00000380152.8:c.10071A>C MANE Select	ENSP00000369497.3:p.Thr3357=
ENST00000544455.6:c.10071A>C	ENSP00000439902.1:p.Thr3357=
ENST00000614259.2:c.10079A>C	ENSP00000506251.1:n.10079A>C
ENST00000680887.1:c.10071A>C	ENSP00000505508.1:p.Thr3357=
ENST00000380152.7:c.10071A>C	ENSP00000369497.3:p.Thr3357=
ENST00000544455.5:c.10071A>C	ENSP00000439902.1:p.Thr3357=
NM_000059.3:c.10071A>C , LRG_293t1:c.10071A>C	NP_000050.2:p.Thr3357=
XM_011535203.1:c.10071A>C	XP_011533505.1:p.Thr3357=
XM_011535204.1:c.9975A>C	XP_011533506.1:p.Thr3325=
NM_000059.4:c.10071A>C MANE Select	NP_000050.3:p.Thr3357=