Canonical Allele Identifier: CA026318

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 135821
• ClinVar RCV Id: RCV000122939 ; RCV000129292 ; RCV000480317 ; RCV002265612 ; RCV003493449
• dbSNP Id: rs200210279
• ExAC: 13:32972522 C / G
• gnomAD v2: 13-32972522-C-G
• gnomAD v3: 13-32398385-C-G
• gnomAD v4: 13-32398385-C-G
• MyVariant Identifiers: chr13:g.32972522C>G (hg19) ; chr13:g.32398385C>G (hg38)
• PubMed: PMID:25452441

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398385C>G , CM000675.2:g.32398385C>G	GRCh38
NC_000013.10:g.32972522C>G , CM000675.1:g.32972522C>G	GRCh37
NC_000013.9:g.31870522C>G	NCBI36
NG_012772.3:g.87906C>G , LRG_293:g.87906C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*395C>G	ENSP00000434898.2:n.*395C>G
ENST00000528762.2:c.*1239C>G	ENSP00000433168.2:n.*1239C>G
ENST00000530893.7:c.9503C>G	ENSP00000499438.2:p.Ser3168Cys
ENST00000665585.2:c.*1434C>G	ENSP00000499570.2:n.*1434C>G
ENST00000700202.2:c.9821C>G	ENSP00000514856.2:p.Ser3274Cys
ENST00000700202.1:c.2288C>G	ENSP00000514856.1:p.Ser763Cys
ENST00000700203.1:n.1999C>G
ENST00000380152.8:c.9872C>G MANE Select	ENSP00000369497.3:p.Ser3291Cys
ENST00000544455.6:c.9872C>G	ENSP00000439902.1:p.Ser3291Cys
ENST00000614259.2:c.9880C>G	ENSP00000506251.1:n.9880C>G
ENST00000680887.1:c.9872C>G	ENSP00000505508.1:p.Ser3291Cys
ENST00000380152.7:c.9872C>G	ENSP00000369497.3:p.Ser3291Cys
ENST00000533776.1:n.460C>G
ENST00000544455.5:c.9872C>G	ENSP00000439902.1:p.Ser3291Cys
NM_000059.3:c.9872C>G , LRG_293t1:c.9872C>G	NP_000050.2:p.Ser3291Cys
XM_011535203.1:c.9872C>G	XP_011533505.1:p.Ser3291Cys
XM_011535204.1:c.9776C>G	XP_011533506.1:p.Ser3259Cys
NM_000059.4:c.9872C>G MANE Select	NP_000050.3:p.Ser3291Cys