Canonical Allele Identifier: CA10579853

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 232519
• ClinVar RCV Id: RCV000213129 ; RCV000495752 ; RCV001490412
• dbSNP Id: rs876659817
• MyVariant Identifiers: chr13:g.32972679A>G (hg19) ; chr13:g.32398542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398542A>G , CM000675.2:g.32398542A>G	GRCh38
NC_000013.10:g.32972679A>G , CM000675.1:g.32972679A>G	GRCh37
NC_000013.9:g.31870679A>G	NCBI36
NG_012772.3:g.88063A>G , LRG_293:g.88063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*552A>G	ENSP00000434898.2:n.*552A>G
ENST00000528762.2:c.*1396A>G	ENSP00000433168.2:n.*1396A>G
ENST00000530893.7:c.9660A>G	ENSP00000499438.2:p.Glu3220=
ENST00000665585.2:c.*1591A>G	ENSP00000499570.2:n.*1591A>G
ENST00000700202.2:c.9978A>G	ENSP00000514856.2:p.Glu3326=
ENST00000700202.1:c.2445A>G	ENSP00000514856.1:p.Glu815=
ENST00000700203.1:n.2156A>G
ENST00000380152.8:c.10029A>G MANE Select	ENSP00000369497.3:p.Glu3343=
ENST00000544455.6:c.10029A>G	ENSP00000439902.1:p.Glu3343=
ENST00000614259.2:c.10037A>G	ENSP00000506251.1:n.10037A>G
ENST00000680887.1:c.10029A>G	ENSP00000505508.1:p.Glu3343=
ENST00000380152.7:c.10029A>G	ENSP00000369497.3:p.Glu3343=
ENST00000544455.5:c.10029A>G	ENSP00000439902.1:p.Glu3343=
NM_000059.3:c.10029A>G , LRG_293t1:c.10029A>G	NP_000050.2:p.Glu3343=
XM_011535203.1:c.10029A>G	XP_011533505.1:p.Glu3343=
XM_011535204.1:c.9933A>G	XP_011533506.1:p.Glu3311=
NM_000059.4:c.10029A>G MANE Select	NP_000050.3:p.Glu3343=