Canonical Allele Identifier: CA387763366

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481513
• ClinVar RCV Id: RCV003645037 ; RCV000570986
• dbSNP Id: rs398122617
• gnomAD v4: 13-32396969-G-C
• MyVariant Identifiers: chr13:g.32971106G>C (hg19) ; chr13:g.32396969G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396969G>C , CM000675.2:g.32396969G>C	GRCh38
NC_000013.10:g.32971106G>C , CM000675.1:g.32971106G>C	GRCh37
NC_000013.9:g.31869106G>C	NCBI36
NG_012772.3:g.86490G>C , LRG_293:g.86490G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*96G>C	ENSP00000434898.2:n.*96G>C
ENST00000528762.2:c.*940G>C	ENSP00000433168.2:n.*940G>C
ENST00000530893.7:c.9204G>C	ENSP00000499438.2:p.Trp3068Cys
ENST00000665585.2:c.*1135G>C	ENSP00000499570.2:n.*1135G>C
ENST00000700202.2:c.9522G>C	ENSP00000514856.2:p.Trp3174Cys
ENST00000700202.1:c.1989G>C	ENSP00000514856.1:p.Trp663Cys
ENST00000700203.1:n.1700G>C
ENST00000380152.8:c.9573G>C MANE Select	ENSP00000369497.3:p.Trp3191Cys
ENST00000544455.6:c.9573G>C	ENSP00000439902.1:p.Trp3191Cys
ENST00000614259.2:c.9581G>C	ENSP00000506251.1:n.9581G>C
ENST00000665585.1:c.2451G>C
ENST00000680887.1:c.9573G>C	ENSP00000505508.1:p.Trp3191Cys
ENST00000380152.7:c.9573G>C	ENSP00000369497.3:p.Trp3191Cys
ENST00000470094.1:c.656G>C
ENST00000533776.1:n.161G>C
ENST00000544455.5:c.9573G>C	ENSP00000439902.1:p.Trp3191Cys
NM_000059.3:c.9573G>C , LRG_293t1:c.9573G>C	NP_000050.2:p.Trp3191Cys
XM_011535203.1:c.9573G>C	XP_011533505.1:p.Trp3191Cys
XM_011535204.1:c.9477G>C	XP_011533506.1:p.Trp3159Cys
NM_000059.4:c.9573G>C MANE Select	NP_000050.3:p.Trp3191Cys