Canonical Allele Identifier: CA026108

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52817
• ClinVar RCV Id: RCV000045795 ; RCV000114092 ; RCV000223579 ; RCV000985625 ; RCV001171420
• dbSNP Id: rs276174923
• ExAC: 13:32968913 A / G
• gnomAD v2: 13-32968913-A-G
• gnomAD v3: 13-32394776-A-G
• gnomAD v4: 13-32394776-A-G
• MyVariant Identifiers: chr13:g.32968913A>G (hg19) ; chr13:g.32394776A>G (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394776A>G , CM000675.2:g.32394776A>G	GRCh38
NC_000013.10:g.32968913A>G , CM000675.1:g.32968913A>G	GRCh37
NC_000013.9:g.31866913A>G	NCBI36
NG_012772.3:g.84297A>G , LRG_293:g.84297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9344A>G	ENSP00000434898.2:p.Lys3115Arg
ENST00000528762.2:c.*711A>G	ENSP00000433168.2:n.*711A>G
ENST00000530893.7:c.8975A>G	ENSP00000499438.2:p.Lys2992Arg
ENST00000665585.2:c.*906A>G	ENSP00000499570.2:n.*906A>G
ENST00000666593.2:c.*189A>G	ENSP00000499256.2:n.*189A>G
ENST00000700202.2:c.9293A>G	ENSP00000514856.2:p.Lys3098Arg
ENST00000700202.1:c.1760A>G	ENSP00000514856.1:p.Lys587Arg
ENST00000700203.1:n.1471A>G
ENST00000380152.8:c.9344A>G MANE Select	ENSP00000369497.3:p.Lys3115Arg
ENST00000544455.6:c.9344A>G	ENSP00000439902.1:p.Lys3115Arg
ENST00000614259.2:c.9352A>G	ENSP00000506251.1:n.9352A>G
ENST00000665585.1:c.2222A>G
ENST00000666593.1:c.366A>G	ENSP00000499256.1:n.366A>G
ENST00000680887.1:c.9344A>G	ENSP00000505508.1:p.Lys3115Arg
ENST00000380152.7:c.9344A>G	ENSP00000369497.3:p.Lys3115Arg
ENST00000470094.1:c.301A>G
ENST00000544455.5:c.9344A>G	ENSP00000439902.1:p.Lys3115Arg
NM_000059.3:c.9344A>G , LRG_293t1:c.9344A>G	NP_000050.2:p.Lys3115Arg
XM_011535203.1:c.9344A>G	XP_011533505.1:p.Lys3115Arg
XM_011535204.1:c.9248A>G	XP_011533506.1:p.Lys3083Arg
NM_000059.4:c.9344A>G MANE Select	NP_000050.3:p.Lys3115Arg