Canonical Allele Identifier: CA025641

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52584
• ClinVar RCV Id: RCV000113930 ; RCV000129757 ; RCV000484281 ; RCV000657058 ; RCV001170975 ; RCV001314399
• dbSNP Id: rs80359089
• ExAC: 13:32944635 A / G
• gnomAD v3: 13-32370498-A-G
• gnomAD v4: 13-32370498-A-G
• COSMIC: COSM5757638
• MyVariant Identifiers: chr13:g.32944635A>G (hg19) ; chr13:g.32370498A>G (hg38)
• PubMed: PMID:19043619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370498A>G , CM000675.2:g.32370498A>G	GRCh38
NC_000013.10:g.32944635A>G , CM000675.1:g.32944635A>G	GRCh37
NC_000013.9:g.31842635A>G	NCBI36
NG_012772.3:g.60019A>G , LRG_293:g.60019A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8428A>G	ENSP00000434898.2:p.Ser2810Gly
ENST00000528762.2:c.8428A>G	ENSP00000433168.2:p.Ser2810Gly
ENST00000530893.7:c.8059A>G	ENSP00000499438.2:p.Ser2687Gly
ENST00000665585.2:c.8428A>G	ENSP00000499570.2:p.Ser2810Gly
ENST00000666593.2:c.8428A>G	ENSP00000499256.2:p.Ser2810Gly
ENST00000700202.2:c.8428A>G	ENSP00000514856.2:p.Ser2810Gly
ENST00000700202.1:c.895A>G	ENSP00000514856.1:p.Ser299Gly
ENST00000380152.8:c.8428A>G MANE Select	ENSP00000369497.3:p.Ser2810Gly
ENST00000544455.6:c.8428A>G	ENSP00000439902.1:p.Ser2810Gly
ENST00000614259.2:c.8436A>G	ENSP00000506251.1:n.8436A>G
ENST00000665585.1:c.993A>G
ENST00000680887.1:c.8428A>G	ENSP00000505508.1:p.Ser2810Gly
ENST00000380152.7:c.8428A>G	ENSP00000369497.3:p.Ser2810Gly
ENST00000544455.5:c.8428A>G	ENSP00000439902.1:p.Ser2810Gly
NM_000059.3:c.8428A>G , LRG_293t1:c.8428A>G	NP_000050.2:p.Ser2810Gly
XM_011535203.1:c.8428A>G	XP_011533505.1:p.Ser2810Gly
XM_011535204.1:c.8332A>G	XP_011533506.1:p.Ser2778Gly
XM_011535205.1:c.8428A>G	XP_011533507.1:p.Ser2810Gly
NM_000059.4:c.8428A>G MANE Select	NP_000050.3:p.Ser2810Gly