Canonical Allele Identifier: CA483439966

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2468735
• ClinVar RCV Id: RCV003207227
• dbSNP Id: rs2137667130
• MyVariant Identifiers: chr13:g.32972799A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398662A>G , CM000675.2:g.32398662A>G	GRCh38
NC_000013.10:g.32972799A>G , CM000675.1:g.32972799A>G	GRCh37
NC_000013.9:g.31870799A>G	NCBI36
NG_012772.3:g.88183A>G , LRG_293:g.88183A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*672A>G	ENSP00000434898.2:n.*672A>G
ENST00000528762.2:c.*1516A>G	ENSP00000433168.2:n.*1516A>G
ENST00000530893.7:c.9780A>G	ENSP00000499438.2:p.Lys3260=
ENST00000665585.2:c.*1711A>G	ENSP00000499570.2:n.*1711A>G
ENST00000700202.2:c.10098A>G	ENSP00000514856.2:p.Lys3366=
ENST00000700202.1:c.2565A>G	ENSP00000514856.1:p.Lys855=
ENST00000700203.1:n.2276A>G
ENST00000380152.8:c.10149A>G MANE Select	ENSP00000369497.3:p.Lys3383=
ENST00000544455.6:c.10149A>G	ENSP00000439902.1:p.Lys3383=
ENST00000614259.2:c.10157A>G	ENSP00000506251.1:n.10157A>G
ENST00000680887.1:c.10149A>G	ENSP00000505508.1:p.Lys3383=
ENST00000380152.7:c.10149A>G	ENSP00000369497.3:p.Lys3383=
ENST00000544455.5:c.10149A>G	ENSP00000439902.1:p.Lys3383=
NM_000059.3:c.10149A>G , LRG_293t1:c.10149A>G	NP_000050.2:p.Lys3383=
XM_011535203.1:c.10149A>G	XP_011533505.1:p.Lys3383=
XM_011535204.1:c.10053A>G	XP_011533506.1:p.Lys3351=
NM_000059.4:c.10149A>G MANE Select	NP_000050.3:p.Lys3383=