Canonical Allele Identifier: CA025903

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126195
• ClinVar RCV Id: RCV000114025 ; RCV000131050 ; RCV000425086 ; RCV000637796 ; RCV003474704
• dbSNP Id: rs80359148
• MyVariant Identifiers: chr13:g.32953902G>A (hg19) ; chr13:g.32379765G>A (hg38)
• PubMed: PMID:17899372 ; PMID:20104584 ; PMID:22632462 ; PMID:25382762 ; PMID:26287763 ; PMID:26296701

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379765G>A , CM000675.2:g.32379765G>A	GRCh38
NC_000013.10:g.32953902G>A , CM000675.1:g.32953902G>A	GRCh37
NC_000013.9:g.31851902G>A	NCBI36
NG_012772.3:g.69286G>A , LRG_293:g.69286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8969G>A	ENSP00000434898.2:p.Trp2990Ter
ENST00000528762.2:c.*336G>A	ENSP00000433168.2:n.*336G>A
ENST00000530893.7:c.8600G>A	ENSP00000499438.2:p.Trp2867Ter
ENST00000665585.2:c.*531G>A	ENSP00000499570.2:n.*531G>A
ENST00000666593.2:c.8969G>A	ENSP00000499256.2:p.Trp2990Ter
ENST00000700202.2:c.8954-36G>A	ENSP00000514856.2:n.8954-36G>A
ENST00000700202.1:c.1421-36G>A	ENSP00000514856.1:n.1421-36G>A
ENST00000700203.1:n.1096G>A
ENST00000380152.8:c.8969G>A MANE Select	ENSP00000369497.3:p.Trp2990Ter
ENST00000544455.6:c.8969G>A	ENSP00000439902.1:p.Trp2990Ter
ENST00000614259.2:c.8977G>A	ENSP00000506251.1:n.8977G>A
ENST00000665585.1:c.1847G>A
ENST00000680887.1:c.8969G>A	ENSP00000505508.1:p.Trp2990Ter
ENST00000380152.7:c.8969G>A	ENSP00000369497.3:p.Trp2990Ter
ENST00000544455.5:c.8969G>A	ENSP00000439902.1:p.Trp2990Ter
NM_000059.3:c.8969G>A , LRG_293t1:c.8969G>A	NP_000050.2:p.Trp2990Ter
XM_011535203.1:c.8969G>A	XP_011533505.1:p.Trp2990Ter
XM_011535204.1:c.8873G>A	XP_011533506.1:p.Trp2958Ter
XM_011535205.1:c.*7G>A	XP_011533507.1:n.*7G>A
NM_000059.4:c.8969G>A MANE Select	NP_000050.3:p.Trp2990Ter