Canonical Allele Identifier: CA025924

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 142866
• ClinVar RCV Id: RCV000132316 ; RCV000160162 ; RCV000530210 ; RCV000656810 ; RCV003492630
• dbSNP Id: rs587782779
• gnomAD v4: 13-32379807-A-G
• MyVariant Identifiers: chr13:g.32953944A>G (hg19) ; chr13:g.32379807A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379807A>G , CM000675.2:g.32379807A>G	GRCh38
NC_000013.10:g.32953944A>G , CM000675.1:g.32953944A>G	GRCh37
NC_000013.9:g.31851944A>G	NCBI36
NG_012772.3:g.69328A>G , LRG_293:g.69328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9011A>G	ENSP00000434898.2:p.Lys3004Arg
ENST00000528762.2:c.*378A>G	ENSP00000433168.2:n.*378A>G
ENST00000530893.7:c.8642A>G	ENSP00000499438.2:p.Lys2881Arg
ENST00000665585.2:c.*573A>G	ENSP00000499570.2:n.*573A>G
ENST00000666593.2:c.9011A>G	ENSP00000499256.2:p.Lys3004Arg
ENST00000700202.2:c.8960A>G	ENSP00000514856.2:p.Lys2987Arg
ENST00000700202.1:c.1427A>G	ENSP00000514856.1:p.Lys476Arg
ENST00000700203.1:n.1138A>G
ENST00000380152.8:c.9011A>G MANE Select	ENSP00000369497.3:p.Lys3004Arg
ENST00000544455.6:c.9011A>G	ENSP00000439902.1:p.Lys3004Arg
ENST00000614259.2:c.9019A>G	ENSP00000506251.1:n.9019A>G
ENST00000665585.1:c.1889A>G
ENST00000680887.1:c.9011A>G	ENSP00000505508.1:p.Lys3004Arg
ENST00000380152.7:c.9011A>G	ENSP00000369497.3:p.Lys3004Arg
ENST00000544455.5:c.9011A>G	ENSP00000439902.1:p.Lys3004Arg
NM_000059.3:c.9011A>G , LRG_293t1:c.9011A>G	NP_000050.2:p.Lys3004Arg
XM_011535203.1:c.9011A>G	XP_011533505.1:p.Lys3004Arg
XM_011535204.1:c.8915A>G	XP_011533506.1:p.Lys2972Arg
XM_011535205.1:c.*49A>G	XP_011533507.1:n.*49A>G
NM_000059.4:c.9011A>G MANE Select	NP_000050.3:p.Lys3004Arg