Canonical Allele Identifier: CA010089

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 142308
• ClinVar RCV Id: RCV000131359 ; RCV000816199
• dbSNP Id: rs587782373
• gnomAD v3: 13-32398553-T-C
• gnomAD v4: 13-32398553-T-C
• MyVariant Identifiers: chr13:g.32972690T>C (hg19) ; chr13:g.32398553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398553T>C , CM000675.2:g.32398553T>C	GRCh38
NC_000013.10:g.32972690T>C , CM000675.1:g.32972690T>C	GRCh37
NC_000013.9:g.31870690T>C	NCBI36
NG_012772.3:g.88074T>C , LRG_293:g.88074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*563T>C	ENSP00000434898.2:n.*563T>C
ENST00000528762.2:c.*1407T>C	ENSP00000433168.2:n.*1407T>C
ENST00000530893.7:c.9671T>C	ENSP00000499438.2:p.Ile3224Thr
ENST00000665585.2:c.*1602T>C	ENSP00000499570.2:n.*1602T>C
ENST00000700202.2:c.9989T>C	ENSP00000514856.2:p.Ile3330Thr
ENST00000700202.1:c.2456T>C	ENSP00000514856.1:p.Ile819Thr
ENST00000700203.1:n.2167T>C
ENST00000380152.8:c.10040T>C MANE Select	ENSP00000369497.3:p.Ile3347Thr
ENST00000544455.6:c.10040T>C	ENSP00000439902.1:p.Ile3347Thr
ENST00000614259.2:c.10048T>C	ENSP00000506251.1:n.10048T>C
ENST00000680887.1:c.10040T>C	ENSP00000505508.1:p.Ile3347Thr
ENST00000380152.7:c.10040T>C	ENSP00000369497.3:p.Ile3347Thr
ENST00000544455.5:c.10040T>C	ENSP00000439902.1:p.Ile3347Thr
NM_000059.3:c.10040T>C , LRG_293t1:c.10040T>C	NP_000050.2:p.Ile3347Thr
XM_011535203.1:c.10040T>C	XP_011533505.1:p.Ile3347Thr
XM_011535204.1:c.9944T>C	XP_011533506.1:p.Ile3315Thr
NM_000059.4:c.10040T>C MANE Select	NP_000050.3:p.Ile3347Thr