Canonical Allele Identifier: CA10602555

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267712
• ClinVar RCV Id: RCV000258499 ; RCV000461006 ; RCV000562165 ; RCV002250610 ; RCV003128237 ; RCV000985614
• dbSNP Id: rs886040949
• MyVariant Identifiers: chr13:g.32953882A>G (hg19) ; chr13:g.32379745A>G (hg38)
• PubMed: PMID:21735045 ; PMID:23479189 ; PMID:23893897 ; PMID:24123850 ; PMID:24607278 ; PMID:24916970 ; PMID:26187060

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379745A>G , CM000675.2:g.32379745A>G	GRCh38
NC_000013.10:g.32953882A>G , CM000675.1:g.32953882A>G	GRCh37
NC_000013.9:g.31851882A>G	NCBI36
NG_012772.3:g.69266A>G , LRG_293:g.69266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8954-5A>G	ENSP00000434898.2:n.8954-5A>G
ENST00000528762.2:c.*321-5A>G	ENSP00000433168.2:n.*321-5A>G
ENST00000530893.7:c.8585-5A>G	ENSP00000499438.2:n.8585-5A>G
ENST00000665585.2:c.*516-5A>G	ENSP00000499570.2:n.*516-5A>G
ENST00000666593.2:c.8954-5A>G	ENSP00000499256.2:n.8954-5A>G
ENST00000700202.2:c.8954-56A>G	ENSP00000514856.2:n.8954-56A>G
ENST00000700202.1:c.1421-56A>G	ENSP00000514856.1:n.1421-56A>G
ENST00000700203.1:n.1081-5A>G
ENST00000380152.8:c.8954-5A>G MANE Select	ENSP00000369497.3:n.8954-5A>G
ENST00000544455.6:c.8954-5A>G	ENSP00000439902.1:n.8954-5A>G
ENST00000614259.2:c.8962-5A>G	ENSP00000506251.1:n.8962-5A>G
ENST00000665585.1:c.1832-5A>G
ENST00000680887.1:c.8954-5A>G	ENSP00000505508.1:n.8954-5A>G
ENST00000380152.7:c.8954-5A>G	ENSP00000369497.3:n.8954-5A>G
ENST00000544455.5:c.8954-5A>G	ENSP00000439902.1:n.8954-5A>G
NM_000059.3:c.8954-5A>G , LRG_293t1:c.8954-5A>G	NP_000050.2:n.8954-5A>G
XM_011535203.1:c.8954-5A>G	XP_011533505.1:n.8954-5A>G
XM_011535204.1:c.8858-5A>G	XP_011533506.1:n.8858-5A>G
XM_011535205.1:c.8755-5A>G	XP_011533507.1:n.8755-5A>G
NM_000059.4:c.8954-5A>G MANE Select	NP_000050.3:n.8954-5A>G