Canonical Allele Identifier: CA026313

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52908
• ClinVar RCV Id: RCV000045906 ; RCV000112817 ; RCV000163358 ; RCV000176715 ; RCV000476571 ; RCV001358433
• dbSNP Id: rs11571832
• ExAC: 13:32972493 A / G
• gnomAD v2: 13-32972493-A-G
• gnomAD v3: 13-32398356-A-G
• gnomAD v4: 13-32398356-A-G
• MyVariant Identifiers: chr13:g.32972493A>G (hg19) ; chr13:g.32398356A>G (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398356A>G , CM000675.2:g.32398356A>G	GRCh38
NC_000013.10:g.32972493A>G , CM000675.1:g.32972493A>G	GRCh37
NC_000013.9:g.31870493A>G	NCBI36
NG_012772.3:g.87877A>G , LRG_293:g.87877A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*366A>G	ENSP00000434898.2:n.*366A>G
ENST00000528762.2:c.*1210A>G	ENSP00000433168.2:n.*1210A>G
ENST00000530893.7:c.9474A>G	ENSP00000499438.2:p.Pro3158=
ENST00000665585.2:c.*1405A>G	ENSP00000499570.2:n.*1405A>G
ENST00000700202.2:c.9792A>G	ENSP00000514856.2:p.Pro3264=
ENST00000700202.1:c.2259A>G	ENSP00000514856.1:p.Pro753=
ENST00000700203.1:n.1970A>G
ENST00000380152.8:c.9843A>G MANE Select	ENSP00000369497.3:p.Pro3281=
ENST00000544455.6:c.9843A>G	ENSP00000439902.1:p.Pro3281=
ENST00000614259.2:c.9851A>G	ENSP00000506251.1:n.9851A>G
ENST00000680887.1:c.9843A>G	ENSP00000505508.1:p.Pro3281=
ENST00000380152.7:c.9843A>G	ENSP00000369497.3:p.Pro3281=
ENST00000533776.1:n.431A>G
ENST00000544455.5:c.9843A>G	ENSP00000439902.1:p.Pro3281=
NM_000059.3:c.9843A>G , LRG_293t1:c.9843A>G	NP_000050.2:p.Pro3281=
XM_011535203.1:c.9843A>G	XP_011533505.1:p.Pro3281=
XM_011535204.1:c.9747A>G	XP_011533506.1:p.Pro3249=
NM_000059.4:c.9843A>G MANE Select	NP_000050.3:p.Pro3281=