Canonical Allele Identifier: CA021479

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51786
• ClinVar RCV Id: RCV000258397 ; RCV000563773 ; RCV000586303 ; RCV000478432
• dbSNP Id: rs397507762
• MyVariant Identifiers: chr13:g.32900420G>A (hg19) ; chr13:g.32326283G>A (hg38)
• PubMed: PMID:12759930 ; PMID:22798144

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326283G>A , CM000675.2:g.32326283G>A	GRCh38
NC_000013.10:g.32900420G>A , CM000675.1:g.32900420G>A	GRCh37
NC_000013.9:g.31798420G>A	NCBI36
NG_012772.3:g.15804G>A , LRG_293:g.15804G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.516+1G>A	ENSP00000434898.2:n.516+1G>A
ENST00000528762.2:c.516+1G>A	ENSP00000433168.2:n.516+1G>A
ENST00000530893.7:c.147+1G>A	ENSP00000499438.2:n.147+1G>A
ENST00000665585.2:c.516+1G>A	ENSP00000499570.2:n.516+1G>A
ENST00000666593.2:c.516+1G>A	ENSP00000499256.2:n.516+1G>A
ENST00000700202.2:c.516+1G>A	ENSP00000514856.2:n.516+1G>A
ENST00000700200.1:n.387+1G>A
ENST00000700201.1:c.*295+1G>A	ENSP00000514855.1:n.*295+1G>A
ENST00000380152.8:c.516+1G>A MANE Select	ENSP00000369497.3:n.516+1G>A
ENST00000544455.6:c.516+1G>A	ENSP00000439902.1:n.516+1G>A
ENST00000614259.2:c.516+1G>A	ENSP00000506251.1:n.516+1G>A
ENST00000680887.1:c.516+1G>A	ENSP00000505508.1:n.516+1G>A
ENST00000380152.7:c.516+1G>A	ENSP00000369497.3:n.516+1G>A
ENST00000530893.6:n.714+1G>A
ENST00000544455.5:c.516+1G>A	ENSP00000439902.1:n.516+1G>A
ENST00000614259.1:n.516+1G>A
NM_000059.3:c.516+1G>A , LRG_293t1:c.516+1G>A	NP_000050.2:n.516+1G>A
XM_011535203.1:c.516+1G>A	XP_011533505.1:n.516+1G>A
XM_011535204.1:c.516+1G>A	XP_011533506.1:n.516+1G>A
XM_011535205.1:c.516+1G>A	XP_011533507.1:n.516+1G>A
NM_000059.4:c.516+1G>A MANE Select	NP_000050.3:n.516+1G>A