Canonical Allele Identifier: CA025930

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52728
• ClinVar RCV Id: RCV000114031 ; RCV000131053 ; RCV000587546
• dbSNP Id: rs80359154
• COSMIC: COSM5575420 ; COSM5575421
• MyVariant Identifiers: chr13:g.32953951C>A (hg19) ; chr13:g.32379814C>A (hg38)
• PubMed: PMID:12955716 ; PMID:17899372 ; PMID:18176857 ; PMID:20033483

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379814C>A , CM000675.2:g.32379814C>A	GRCh38
NC_000013.10:g.32953951C>A , CM000675.1:g.32953951C>A	GRCh37
NC_000013.9:g.31851951C>A	NCBI36
NG_012772.3:g.69335C>A , LRG_293:g.69335C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9018C>A	ENSP00000434898.2:p.Tyr3006Ter
ENST00000528762.2:c.*385C>A	ENSP00000433168.2:n.*385C>A
ENST00000530893.7:c.8649C>A	ENSP00000499438.2:p.Tyr2883Ter
ENST00000665585.2:c.*580C>A	ENSP00000499570.2:n.*580C>A
ENST00000666593.2:c.9018C>A	ENSP00000499256.2:p.Tyr3006Ter
ENST00000700202.2:c.8967C>A	ENSP00000514856.2:p.Tyr2989Ter
ENST00000700202.1:c.1434C>A	ENSP00000514856.1:p.Tyr478Ter
ENST00000700203.1:n.1145C>A
ENST00000380152.8:c.9018C>A MANE Select	ENSP00000369497.3:p.Tyr3006Ter
ENST00000544455.6:c.9018C>A	ENSP00000439902.1:p.Tyr3006Ter
ENST00000614259.2:c.9026C>A	ENSP00000506251.1:n.9026C>A
ENST00000665585.1:c.1896C>A
ENST00000680887.1:c.9018C>A	ENSP00000505508.1:p.Tyr3006Ter
ENST00000380152.7:c.9018C>A	ENSP00000369497.3:p.Tyr3006Ter
ENST00000544455.5:c.9018C>A	ENSP00000439902.1:p.Tyr3006Ter
NM_000059.3:c.9018C>A , LRG_293t1:c.9018C>A	NP_000050.2:p.Tyr3006Ter
XM_011535203.1:c.9018C>A	XP_011533505.1:p.Tyr3006Ter
XM_011535204.1:c.8922C>A	XP_011533506.1:p.Tyr2974Ter
XM_011535205.1:c.*56C>A	XP_011533507.1:n.*56C>A
NM_000059.4:c.9018C>A MANE Select	NP_000050.3:p.Tyr3006Ter