Canonical Allele Identifier: CA025881

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 91738
• ClinVar RCV Id: RCV000077646 ; RCV000510052 ; RCV000586974 ; RCV001087133 ; RCV002469007 ; RCV003460733
• dbSNP Id: rs398122716
• ExAC: 13:32953641 A / G
• gnomAD v2: 13-32953641-A-G
• gnomAD v4: 13-32379504-A-G
• MyVariant Identifiers: chr13:g.32953641A>G (hg19) ; chr13:g.32379504A>G (hg38)
• PubMed: PMID:24916970

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379504A>G , CM000675.2:g.32379504A>G	GRCh38
NC_000013.10:g.32953641A>G , CM000675.1:g.32953641A>G	GRCh37
NC_000013.9:g.31851641A>G	NCBI36
NG_012772.3:g.69025A>G , LRG_293:g.69025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8942A>G	ENSP00000434898.2:p.Glu2981Gly
ENST00000528762.2:c.*309A>G	ENSP00000433168.2:n.*309A>G
ENST00000530893.7:c.8573A>G	ENSP00000499438.2:p.Glu2858Gly
ENST00000665585.2:c.*504A>G	ENSP00000499570.2:n.*504A>G
ENST00000666593.2:c.8942A>G	ENSP00000499256.2:p.Glu2981Gly
ENST00000700202.2:c.8942A>G	ENSP00000514856.2:p.Glu2981Gly
ENST00000700202.1:c.1409A>G	ENSP00000514856.1:p.Glu470Gly
ENST00000700203.1:n.1069A>G
ENST00000380152.8:c.8942A>G MANE Select	ENSP00000369497.3:p.Glu2981Gly
ENST00000544455.6:c.8942A>G	ENSP00000439902.1:p.Glu2981Gly
ENST00000614259.2:c.8950A>G	ENSP00000506251.1:n.8950A>G
ENST00000665585.1:c.1820A>G
ENST00000680887.1:c.8942A>G	ENSP00000505508.1:p.Glu2981Gly
ENST00000380152.7:c.8942A>G	ENSP00000369497.3:p.Glu2981Gly
ENST00000544455.5:c.8942A>G	ENSP00000439902.1:p.Glu2981Gly
NM_000059.3:c.8942A>G , LRG_293t1:c.8942A>G	NP_000050.2:p.Glu2981Gly
XM_011535203.1:c.8942A>G	XP_011533505.1:p.Glu2981Gly
XM_011535204.1:c.8846A>G	XP_011533506.1:p.Glu2949Gly
XM_011535205.1:c.8755-246A>G	XP_011533507.1:n.8755-246A>G
NM_000059.4:c.8942A>G MANE Select	NP_000050.3:p.Glu2981Gly