Canonical Allele Identifier: CA010167

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 184484
• ClinVar RCV Id: RCV000163747 ; RCV001464763 ; RCV000495804
• dbSNP Id: rs786201493
• gnomAD v4: 13-32398593-A-G
• MyVariant Identifiers: chr13:g.32972730A>G (hg19) ; chr13:g.32398593A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398593A>G , CM000675.2:g.32398593A>G	GRCh38
NC_000013.10:g.32972730A>G , CM000675.1:g.32972730A>G	GRCh37
NC_000013.9:g.31870730A>G	NCBI36
NG_012772.3:g.88114A>G , LRG_293:g.88114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*603A>G	ENSP00000434898.2:n.*603A>G
ENST00000528762.2:c.*1447A>G	ENSP00000433168.2:n.*1447A>G
ENST00000530893.7:c.9711A>G	ENSP00000499438.2:p.Lys3237=
ENST00000665585.2:c.*1642A>G	ENSP00000499570.2:n.*1642A>G
ENST00000700202.2:c.10029A>G	ENSP00000514856.2:p.Lys3343=
ENST00000700202.1:c.2496A>G	ENSP00000514856.1:p.Lys832=
ENST00000700203.1:n.2207A>G
ENST00000380152.8:c.10080A>G MANE Select	ENSP00000369497.3:p.Lys3360=
ENST00000544455.6:c.10080A>G	ENSP00000439902.1:p.Lys3360=
ENST00000614259.2:c.10088A>G	ENSP00000506251.1:n.10088A>G
ENST00000680887.1:c.10080A>G	ENSP00000505508.1:p.Lys3360=
ENST00000380152.7:c.10080A>G	ENSP00000369497.3:p.Lys3360=
ENST00000544455.5:c.10080A>G	ENSP00000439902.1:p.Lys3360=
NM_000059.3:c.10080A>G , LRG_293t1:c.10080A>G	NP_000050.2:p.Lys3360=
XM_011535203.1:c.10080A>G	XP_011533505.1:p.Lys3360=
XM_011535204.1:c.9984A>G	XP_011533506.1:p.Lys3328=
NM_000059.4:c.10080A>G MANE Select	NP_000050.3:p.Lys3360=