Canonical Allele Identifier: CA025754

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 186963
• ClinVar RCV Id: RCV000166633 ; RCV000223363 ; RCV000637779
• dbSNP Id: rs786203358
• gnomAD v4: 13-32376670-A-G
• MyVariant Identifiers: chr13:g.32950807A>G (hg19) ; chr13:g.32376670A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376670A>G , CM000675.2:g.32376670A>G	GRCh38
NC_000013.10:g.32950807A>G , CM000675.1:g.32950807A>G	GRCh37
NC_000013.9:g.31848807A>G	NCBI36
NG_012772.3:g.66191A>G , LRG_293:g.66191A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8633A>G	ENSP00000434898.2:p.Glu2878Gly
ENST00000528762.2:c.8697A>G	ENSP00000433168.2:p.Ter2899Trp
ENST00000530893.7:c.8264A>G	ENSP00000499438.2:p.Glu2755Gly
ENST00000665585.2:c.*195A>G	ENSP00000499570.2:n.*195A>G
ENST00000666593.2:c.8633A>G	ENSP00000499256.2:p.Glu2878Gly
ENST00000700202.2:c.8633A>G	ENSP00000514856.2:p.Glu2878Gly
ENST00000700202.1:c.1100A>G	ENSP00000514856.1:p.Glu367Gly
ENST00000700203.1:n.760A>G
ENST00000380152.8:c.8633A>G MANE Select	ENSP00000369497.3:p.Glu2878Gly
ENST00000544455.6:c.8633A>G	ENSP00000439902.1:p.Glu2878Gly
ENST00000614259.2:c.8641A>G	ENSP00000506251.1:n.8641A>G
ENST00000665585.1:c.1511A>G
ENST00000680887.1:c.8633A>G	ENSP00000505508.1:p.Glu2878Gly
ENST00000380152.7:c.8633A>G	ENSP00000369497.3:p.Glu2878Gly
ENST00000528762.1:c.195A>G	ENSP00000433168.1:p.Ter65Trp
ENST00000544455.5:c.8633A>G	ENSP00000439902.1:p.Glu2878Gly
NM_000059.3:c.8633A>G , LRG_293t1:c.8633A>G	NP_000050.2:p.Glu2878Gly
XM_011535203.1:c.8633A>G	XP_011533505.1:p.Glu2878Gly
XM_011535204.1:c.8537A>G	XP_011533506.1:p.Glu2846Gly
XM_011535205.1:c.8633A>G	XP_011533507.1:p.Glu2878Gly
NM_000059.4:c.8633A>G MANE Select	NP_000050.3:p.Glu2878Gly