Canonical Allele Identifier: CA350802

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 219869
• ClinVar RCV Id: RCV000206805 ; RCV000495194 ; RCV001018232 ; RCV001293535
• dbSNP Id: rs864622287
• gnomAD v4: 13-32376755-A-G
• MyVariant Identifiers: chr13:g.32950892A>G (hg19) ; chr13:g.32376755A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376755A>G , CM000675.2:g.32376755A>G	GRCh38
NC_000013.10:g.32950892A>G , CM000675.1:g.32950892A>G	GRCh37
NC_000013.9:g.31848892A>G	NCBI36
NG_012772.3:g.66276A>G , LRG_293:g.66276A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8718A>G	ENSP00000434898.2:p.Glu2906=
ENST00000528762.2:c.*85A>G	ENSP00000433168.2:n.*85A>G
ENST00000530893.7:c.8349A>G	ENSP00000499438.2:p.Glu2783=
ENST00000665585.2:c.*280A>G	ENSP00000499570.2:n.*280A>G
ENST00000666593.2:c.8718A>G	ENSP00000499256.2:p.Glu2906=
ENST00000700202.2:c.8718A>G	ENSP00000514856.2:p.Glu2906=
ENST00000700202.1:c.1185A>G	ENSP00000514856.1:p.Glu395=
ENST00000700203.1:n.845A>G
ENST00000380152.8:c.8718A>G MANE Select	ENSP00000369497.3:p.Glu2906=
ENST00000544455.6:c.8718A>G	ENSP00000439902.1:p.Glu2906=
ENST00000614259.2:c.8726A>G	ENSP00000506251.1:n.8726A>G
ENST00000665585.1:c.1596A>G
ENST00000680887.1:c.8718A>G	ENSP00000505508.1:p.Glu2906=
ENST00000380152.7:c.8718A>G	ENSP00000369497.3:p.Glu2906=
ENST00000528762.1:c.280A>G	ENSP00000433168.1:n.280A>G
ENST00000544455.5:c.8718A>G	ENSP00000439902.1:p.Glu2906=
NM_000059.3:c.8718A>G , LRG_293t1:c.8718A>G	NP_000050.2:p.Glu2906=
XM_011535203.1:c.8718A>G	XP_011533505.1:p.Glu2906=
XM_011535204.1:c.8622A>G	XP_011533506.1:p.Glu2874=
XM_011535205.1:c.8718A>G	XP_011533507.1:p.Glu2906=
NM_000059.4:c.8718A>G MANE Select	NP_000050.3:p.Glu2906=