Canonical Allele Identifier: CA026103

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52814
• ClinVar RCV Id: RCV000114090 ; RCV000496936 ; RCV001019163 ; RCV000585639 ; RCV001646927
• dbSNP Id: rs80359205
• MyVariant Identifiers: chr13:g.32968886G>A (hg19) ; chr13:g.32394749G>A (hg38)
• PubMed: PMID:21702907

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394749G>A , CM000675.2:g.32394749G>A	GRCh38
NC_000013.10:g.32968886G>A , CM000675.1:g.32968886G>A	GRCh37
NC_000013.9:g.31866886G>A	NCBI36
NG_012772.3:g.84270G>A , LRG_293:g.84270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9317G>A	ENSP00000434898.2:p.Trp3106Ter
ENST00000528762.2:c.*684G>A	ENSP00000433168.2:n.*684G>A
ENST00000530893.7:c.8948G>A	ENSP00000499438.2:p.Trp2983Ter
ENST00000665585.2:c.*879G>A	ENSP00000499570.2:n.*879G>A
ENST00000666593.2:c.*162G>A	ENSP00000499256.2:n.*162G>A
ENST00000700202.2:c.9266G>A	ENSP00000514856.2:p.Trp3089Ter
ENST00000700202.1:c.1733G>A	ENSP00000514856.1:p.Trp578Ter
ENST00000700203.1:n.1444G>A
ENST00000380152.8:c.9317G>A MANE Select	ENSP00000369497.3:p.Trp3106Ter
ENST00000544455.6:c.9317G>A	ENSP00000439902.1:p.Trp3106Ter
ENST00000614259.2:c.9325G>A	ENSP00000506251.1:n.9325G>A
ENST00000665585.1:c.2195G>A
ENST00000666593.1:c.339G>A	ENSP00000499256.1:n.339G>A
ENST00000680887.1:c.9317G>A	ENSP00000505508.1:p.Trp3106Ter
ENST00000380152.7:c.9317G>A	ENSP00000369497.3:p.Trp3106Ter
ENST00000470094.1:c.274G>A
ENST00000544455.5:c.9317G>A	ENSP00000439902.1:p.Trp3106Ter
NM_000059.3:c.9317G>A , LRG_293t1:c.9317G>A	NP_000050.2:p.Trp3106Ter
XM_011535203.1:c.9317G>A	XP_011533505.1:p.Trp3106Ter
XM_011535204.1:c.9221G>A	XP_011533506.1:p.Trp3074Ter
NM_000059.4:c.9317G>A MANE Select	NP_000050.3:p.Trp3106Ter