Canonical Allele Identifier: CA026311

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52906
• ClinVar RCV Id: RCV000045904 ; RCV000077477 ; RCV000130774 ; RCV000430520 ; RCV001703949 ; RCV001798244
• dbSNP Id: rs80359246
• ExAC: 13:32972489 C / A
• gnomAD v2: 13-32972489-C-A
• gnomAD v3: 13-32398352-C-A
• gnomAD v4: 13-32398352-C-A
• MyVariant Identifiers: chr13:g.32972489C>A (hg19) ; chr13:g.32398352C>A (hg38)
• PubMed: PMID:10923033 ; PMID:18593900 ; PMID:24323938 ; PMID:24817641 ; PMID:25348012

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398352C>A , CM000675.2:g.32398352C>A	GRCh38
NC_000013.10:g.32972489C>A , CM000675.1:g.32972489C>A	GRCh37
NC_000013.9:g.31870489C>A	NCBI36
NG_012772.3:g.87873C>A , LRG_293:g.87873C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*362C>A	ENSP00000434898.2:n.*362C>A
ENST00000528762.2:c.*1206C>A	ENSP00000433168.2:n.*1206C>A
ENST00000530893.7:c.9470C>A	ENSP00000499438.2:p.Pro3157His
ENST00000665585.2:c.*1401C>A	ENSP00000499570.2:n.*1401C>A
ENST00000700202.2:c.9788C>A	ENSP00000514856.2:p.Pro3263His
ENST00000700202.1:c.2255C>A	ENSP00000514856.1:p.Pro752His
ENST00000700203.1:n.1966C>A
ENST00000380152.8:c.9839C>A MANE Select	ENSP00000369497.3:p.Pro3280His
ENST00000544455.6:c.9839C>A	ENSP00000439902.1:p.Pro3280His
ENST00000614259.2:c.9847C>A	ENSP00000506251.1:n.9847C>A
ENST00000680887.1:c.9839C>A	ENSP00000505508.1:p.Pro3280His
ENST00000380152.7:c.9839C>A	ENSP00000369497.3:p.Pro3280His
ENST00000533776.1:n.427C>A
ENST00000544455.5:c.9839C>A	ENSP00000439902.1:p.Pro3280His
NM_000059.3:c.9839C>A , LRG_293t1:c.9839C>A	NP_000050.2:p.Pro3280His
XM_011535203.1:c.9839C>A	XP_011533505.1:p.Pro3280His
XM_011535204.1:c.9743C>A	XP_011533506.1:p.Pro3248His
NM_000059.4:c.9839C>A MANE Select	NP_000050.3:p.Pro3280His