Canonical Allele Identifier: CA10575935

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 224448
• ClinVar RCV Id: RCV000240700 ; RCV000526753 ; RCV000256794 ; RCV001180870 ; RCV003221863
• dbSNP Id: rs771203198
• MyVariant Identifiers: chr13:g.32968887G>A (hg19) ; chr13:g.32394750G>A (hg38)
• PubMed: PMID:27257965

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394750G>A , CM000675.2:g.32394750G>A	GRCh38
NC_000013.10:g.32968887G>A , CM000675.1:g.32968887G>A	GRCh37
NC_000013.9:g.31866887G>A	NCBI36
NG_012772.3:g.84271G>A , LRG_293:g.84271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9318G>A	ENSP00000434898.2:p.Trp3106Ter
ENST00000528762.2:c.*685G>A	ENSP00000433168.2:n.*685G>A
ENST00000530893.7:c.8949G>A	ENSP00000499438.2:p.Trp2983Ter
ENST00000665585.2:c.*880G>A	ENSP00000499570.2:n.*880G>A
ENST00000666593.2:c.*163G>A	ENSP00000499256.2:n.*163G>A
ENST00000700202.2:c.9267G>A	ENSP00000514856.2:p.Trp3089Ter
ENST00000700202.1:c.1734G>A	ENSP00000514856.1:p.Trp578Ter
ENST00000700203.1:n.1445G>A
ENST00000380152.8:c.9318G>A MANE Select	ENSP00000369497.3:p.Trp3106Ter
ENST00000544455.6:c.9318G>A	ENSP00000439902.1:p.Trp3106Ter
ENST00000614259.2:c.9326G>A	ENSP00000506251.1:n.9326G>A
ENST00000665585.1:c.2196G>A
ENST00000666593.1:c.340G>A	ENSP00000499256.1:n.340G>A
ENST00000680887.1:c.9318G>A	ENSP00000505508.1:p.Trp3106Ter
ENST00000380152.7:c.9318G>A	ENSP00000369497.3:p.Trp3106Ter
ENST00000470094.1:c.275G>A
ENST00000544455.5:c.9318G>A	ENSP00000439902.1:p.Trp3106Ter
NM_000059.3:c.9318G>A , LRG_293t1:c.9318G>A	NP_000050.2:p.Trp3106Ter
XM_011535203.1:c.9318G>A	XP_011533505.1:p.Trp3106Ter
XM_011535204.1:c.9222G>A	XP_011533506.1:p.Trp3074Ter
NM_000059.4:c.9318G>A MANE Select	NP_000050.3:p.Trp3106Ter