Canonical Allele Identifier: CA025941

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141104
• ClinVar RCV Id: RCV000129464 ; RCV000214548 ; RCV000533812 ; RCV000989081 ; RCV002307400
• dbSNP Id: rs587781497
• gnomAD v2: 13-32953976-A-G
• gnomAD v4: 13-32379839-A-G
• MyVariant Identifiers: chr13:g.32953976A>G (hg19) ; chr13:g.32379839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379839A>G , CM000675.2:g.32379839A>G	GRCh38
NC_000013.10:g.32953976A>G , CM000675.1:g.32953976A>G	GRCh37
NC_000013.9:g.31851976A>G	NCBI36
NG_012772.3:g.69360A>G , LRG_293:g.69360A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9043A>G	ENSP00000434898.2:p.Lys3015Glu
ENST00000528762.2:c.*410A>G	ENSP00000433168.2:n.*410A>G
ENST00000530893.7:c.8674A>G	ENSP00000499438.2:p.Lys2892Glu
ENST00000665585.2:c.*605A>G	ENSP00000499570.2:n.*605A>G
ENST00000666593.2:c.9043A>G	ENSP00000499256.2:p.Lys3015Glu
ENST00000700202.2:c.8992A>G	ENSP00000514856.2:p.Lys2998Glu
ENST00000700202.1:c.1459A>G	ENSP00000514856.1:p.Lys487Glu
ENST00000700203.1:n.1170A>G
ENST00000380152.8:c.9043A>G MANE Select	ENSP00000369497.3:p.Lys3015Glu
ENST00000544455.6:c.9043A>G	ENSP00000439902.1:p.Lys3015Glu
ENST00000614259.2:c.9051A>G	ENSP00000506251.1:n.9051A>G
ENST00000665585.1:c.1921A>G
ENST00000680887.1:c.9043A>G	ENSP00000505508.1:p.Lys3015Glu
ENST00000380152.7:c.9043A>G	ENSP00000369497.3:p.Lys3015Glu
ENST00000544455.5:c.9043A>G	ENSP00000439902.1:p.Lys3015Glu
NM_000059.3:c.9043A>G , LRG_293t1:c.9043A>G	NP_000050.2:p.Lys3015Glu
XM_011535203.1:c.9043A>G	XP_011533505.1:p.Lys3015Glu
XM_011535204.1:c.8947A>G	XP_011533506.1:p.Lys2983Glu
XM_011535205.1:c.*81A>G	XP_011533507.1:n.*81A>G
NM_000059.4:c.9043A>G MANE Select	NP_000050.3:p.Lys3015Glu