Canonical Allele Identifier: CA026090

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182261
• ClinVar RCV Id: RCV002288678 ; RCV002372041
• dbSNP Id: rs730881570
• MyVariant Identifiers: chr13:g.32968859G>A (hg19) ; chr13:g.32394722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394722G>A , CM000675.2:g.32394722G>A	GRCh38
NC_000013.10:g.32968859G>A , CM000675.1:g.32968859G>A	GRCh37
NC_000013.9:g.31866859G>A	NCBI36
NG_012772.3:g.84243G>A , LRG_293:g.84243G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9290G>A	ENSP00000434898.2:p.Cys3097Tyr
ENST00000528762.2:c.*657G>A	ENSP00000433168.2:n.*657G>A
ENST00000530893.7:c.8921G>A	ENSP00000499438.2:p.Cys2974Tyr
ENST00000665585.2:c.*852G>A	ENSP00000499570.2:n.*852G>A
ENST00000666593.2:c.*135G>A	ENSP00000499256.2:n.*135G>A
ENST00000700202.2:c.9239G>A	ENSP00000514856.2:p.Cys3080Tyr
ENST00000700202.1:c.1706G>A	ENSP00000514856.1:p.Cys569Tyr
ENST00000700203.1:n.1417G>A
ENST00000380152.8:c.9290G>A MANE Select	ENSP00000369497.3:p.Cys3097Tyr
ENST00000544455.6:c.9290G>A	ENSP00000439902.1:p.Cys3097Tyr
ENST00000614259.2:c.9298G>A	ENSP00000506251.1:n.9298G>A
ENST00000665585.1:c.2168G>A
ENST00000666593.1:c.312G>A	ENSP00000499256.1:n.312G>A
ENST00000680887.1:c.9290G>A	ENSP00000505508.1:p.Cys3097Tyr
ENST00000380152.7:c.9290G>A	ENSP00000369497.3:p.Cys3097Tyr
ENST00000470094.1:c.247G>A
ENST00000544455.5:c.9290G>A	ENSP00000439902.1:p.Cys3097Tyr
NM_000059.3:c.9290G>A , LRG_293t1:c.9290G>A	NP_000050.2:p.Cys3097Tyr
XM_011535203.1:c.9290G>A	XP_011533505.1:p.Cys3097Tyr
XM_011535204.1:c.9194G>A	XP_011533506.1:p.Cys3065Tyr
NM_000059.4:c.9290G>A MANE Select	NP_000050.3:p.Cys3097Tyr