Canonical Allele Identifier: CA026086

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52805
• ClinVar RCV Id: RCV000045779 ; RCV000077467 ; RCV000236007 ; RCV000223197 ; RCV003473431
• dbSNP Id: rs80359198
• gnomAD v2: 13-32968854-C-G
• gnomAD v4: 13-32394717-C-G
• MyVariant Identifiers: chr13:g.32968854C>G (hg19) ; chr13:g.32394717C>G (hg38)
• PubMed: PMID:8640235 ; PMID:16875939 ; PMID:17899372 ; PMID:17924331 ; PMID:18451181 ; PMID:18951446 ; PMID:18951461 ; PMID:19043619 ; PMID:21990134 ; PMID:21990165 ; PMID:22678057 ; PMID:23108138 ; PMID:24323938 ; PMID:25085752 ; PMID:25447315

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394717C>G , CM000675.2:g.32394717C>G	GRCh38
NC_000013.10:g.32968854C>G , CM000675.1:g.32968854C>G	GRCh37
NC_000013.9:g.31866854C>G	NCBI36
NG_012772.3:g.84238C>G , LRG_293:g.84238C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9285C>G	ENSP00000434898.2:p.Asp3095Glu
ENST00000528762.2:c.*652C>G	ENSP00000433168.2:n.*652C>G
ENST00000530893.7:c.8916C>G	ENSP00000499438.2:p.Asp2972Glu
ENST00000665585.2:c.*847C>G	ENSP00000499570.2:n.*847C>G
ENST00000666593.2:c.*130C>G	ENSP00000499256.2:n.*130C>G
ENST00000700202.2:c.9234C>G	ENSP00000514856.2:p.Asp3078Glu
ENST00000700202.1:c.1701C>G	ENSP00000514856.1:p.Asp567Glu
ENST00000700203.1:n.1412C>G
ENST00000380152.8:c.9285C>G MANE Select	ENSP00000369497.3:p.Asp3095Glu
ENST00000544455.6:c.9285C>G	ENSP00000439902.1:p.Asp3095Glu
ENST00000614259.2:c.9293C>G	ENSP00000506251.1:n.9293C>G
ENST00000665585.1:c.2163C>G
ENST00000666593.1:c.307C>G	ENSP00000499256.1:n.307C>G
ENST00000680887.1:c.9285C>G	ENSP00000505508.1:p.Asp3095Glu
ENST00000380152.7:c.9285C>G	ENSP00000369497.3:p.Asp3095Glu
ENST00000470094.1:c.242C>G
ENST00000544455.5:c.9285C>G	ENSP00000439902.1:p.Asp3095Glu
NM_000059.3:c.9285C>G , LRG_293t1:c.9285C>G	NP_000050.2:p.Asp3095Glu
XM_011535203.1:c.9285C>G	XP_011533505.1:p.Asp3095Glu
XM_011535204.1:c.9189C>G	XP_011533506.1:p.Asp3063Glu
NM_000059.4:c.9285C>G MANE Select	NP_000050.3:p.Asp3095Glu