Canonical Allele Identifier: CA024334

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52160
• ClinVar RCV Id: RCV000077381 ; RCV000218090 ; RCV000496390 ; RCV000510076 ; RCV003332101 ; RCV003162384
• dbSNP Id: rs81002796
• MyVariant Identifiers: chr13:g.32890665G>A (hg19) ; chr13:g.32316528G>A (hg38)
• PubMed: PMID:12938098 ; PMID:17011978 ; PMID:21063910

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316528G>A , CM000675.2:g.32316528G>A	GRCh38
NC_000013.10:g.32890665G>A , CM000675.1:g.32890665G>A	GRCh37
NC_000013.9:g.31788665G>A	NCBI36
NG_012772.3:g.6049G>A , LRG_293:g.6049G>A
NG_017006.1:g.427C>T
NG_017006.2:g.3836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.67+1G>A	ENSP00000434898.2:n.67+1G>A
ENST00000528762.2:c.67+1G>A	ENSP00000433168.2:n.67+1G>A
ENST00000530893.7:c.-303+5G>A	ENSP00000499438.2:n.-303+5G>A
ENST00000665585.2:c.67+1G>A	ENSP00000499570.2:n.67+1G>A
ENST00000666593.2:c.67+1G>A	ENSP00000499256.2:n.67+1G>A
ENST00000700202.2:c.67+1G>A	ENSP00000514856.2:n.67+1G>A
ENST00000700199.1:n.192G>A
ENST00000700200.1:n.191+1G>A
ENST00000700201.1:c.67+1G>A	ENSP00000514855.1:n.67+1G>A
ENST00000380152.8:c.67+1G>A MANE Select	ENSP00000369497.3:n.67+1G>A
ENST00000544455.6:c.67+1G>A	ENSP00000439902.1:n.67+1G>A
ENST00000614259.2:c.67+1G>A	ENSP00000506251.1:n.67+1G>A
ENST00000680887.1:c.67+1G>A	ENSP00000505508.1:n.67+1G>A
ENST00000380152.7:c.67+1G>A	ENSP00000369497.3:n.67+1G>A
ENST00000530893.6:n.265+5G>A
ENST00000544455.5:c.67+1G>A	ENSP00000439902.1:n.67+1G>A
ENST00000614259.1:n.67+1G>A
NM_000059.3:c.67+1G>A , LRG_293t1:c.67+1G>A	NP_000050.2:n.67+1G>A
XM_011535203.1:c.67+1G>A	XP_011533505.1:n.67+1G>A
XM_011535204.1:c.67+1G>A	XP_011533506.1:n.67+1G>A
XM_011535205.1:c.67+1G>A	XP_011533507.1:n.67+1G>A
NM_000059.4:c.67+1G>A MANE Select	NP_000050.3:n.67+1G>A