Canonical Allele Identifier: CA025338

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52436
• ClinVar RCV Id: RCV000045344 ; RCV000077416 ; RCV000129050 ; RCV002307382 ; RCV003492367 ; RCV001284588
• dbSNP Id: rs80359018
• ExAC: 13:32936782 C / G
• gnomAD v2: 13-32936782-C-G
• gnomAD v3: 13-32362645-C-G
• gnomAD v4: 13-32362645-C-G
• MyVariant Identifiers: chr13:g.32936782C>G (hg19) ; chr13:g.32362645C>G (hg38)
• PubMed: PMID:10923033 ; PMID:18451181 ; PMID:19043619 ; PMID:21673748 ; PMID:22476429 ; PMID:22505045

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362645C>G , CM000675.2:g.32362645C>G	GRCh38
NC_000013.10:g.32936782C>G , CM000675.1:g.32936782C>G	GRCh37
NC_000013.9:g.31834782C>G	NCBI36
NG_012772.3:g.52166C>G , LRG_293:g.52166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7928C>G	ENSP00000434898.2:p.Ala2643Gly
ENST00000528762.2:c.7928C>G	ENSP00000433168.2:p.Ala2643Gly
ENST00000530893.7:c.7559C>G	ENSP00000499438.2:p.Ala2520Gly
ENST00000665585.2:c.7928C>G	ENSP00000499570.2:p.Ala2643Gly
ENST00000666593.2:c.7928C>G	ENSP00000499256.2:p.Ala2643Gly
ENST00000700202.2:c.7928C>G	ENSP00000514856.2:p.Ala2643Gly
ENST00000700202.1:c.395C>G	ENSP00000514856.1:p.Ala132Gly
ENST00000380152.8:c.7928C>G MANE Select	ENSP00000369497.3:p.Ala2643Gly
ENST00000544455.6:c.7928C>G	ENSP00000439902.1:p.Ala2643Gly
ENST00000614259.2:c.7936C>G	ENSP00000506251.1:p.Leu2646Val
ENST00000665585.1:c.493C>G
ENST00000680887.1:c.7928C>G	ENSP00000505508.1:p.Ala2643Gly
ENST00000380152.7:c.7928C>G	ENSP00000369497.3:p.Ala2643Gly
ENST00000544455.5:c.7928C>G	ENSP00000439902.1:p.Ala2643Gly
ENST00000614259.1:n.7936C>G
NM_000059.3:c.7928C>G , LRG_293t1:c.7928C>G	NP_000050.2:p.Ala2643Gly
XM_011535203.1:c.7928C>G	XP_011533505.1:p.Ala2643Gly
XM_011535204.1:c.7832C>G	XP_011533506.1:p.Ala2611Gly
XM_011535205.1:c.7928C>G	XP_011533507.1:p.Ala2643Gly
NM_000059.4:c.7928C>G MANE Select	NP_000050.3:p.Ala2643Gly