Canonical Allele Identifier: CA020757

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51709
• ClinVar RCV Id: RCV000044483 ; RCV000113645 ; RCV000162896 ; RCV000255387 ; RCV003460586 ; RCV004528244
• dbSNP Id: rs81002797
• gnomAD v4: 13-32326151-G-T
• MyVariant Identifiers: chr13:g.32900288G>T (hg19) ; chr13:g.32326151G>T (hg38)
• PubMed: PMID:10923033 ; PMID:18703817 ; PMID:21523855 ; PMID:23451180 ; PMID:24156927

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326151G>T , CM000675.2:g.32326151G>T	GRCh38
NC_000013.10:g.32900288G>T , CM000675.1:g.32900288G>T	GRCh37
NC_000013.9:g.31798288G>T	NCBI36
NG_012772.3:g.15672G>T , LRG_293:g.15672G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.475+1G>T	ENSP00000434898.2:n.475+1G>T
ENST00000528762.2:c.475+1G>T	ENSP00000433168.2:n.475+1G>T
ENST00000530893.7:c.106+1G>T	ENSP00000499438.2:n.106+1G>T
ENST00000665585.2:c.475+1G>T	ENSP00000499570.2:n.475+1G>T
ENST00000666593.2:c.475+1G>T	ENSP00000499256.2:n.475+1G>T
ENST00000700202.2:c.475+1G>T	ENSP00000514856.2:n.475+1G>T
ENST00000700200.1:n.346+1G>T
ENST00000700201.1:c.*254+1G>T	ENSP00000514855.1:n.*254+1G>T
ENST00000380152.8:c.475+1G>T MANE Select	ENSP00000369497.3:n.475+1G>T
ENST00000544455.6:c.475+1G>T	ENSP00000439902.1:n.475+1G>T
ENST00000614259.2:c.475+1G>T	ENSP00000506251.1:n.475+1G>T
ENST00000680887.1:c.475+1G>T	ENSP00000505508.1:n.475+1G>T
ENST00000380152.7:c.475+1G>T	ENSP00000369497.3:n.475+1G>T
ENST00000530893.6:n.673+1G>T
ENST00000544455.5:c.475+1G>T	ENSP00000439902.1:n.475+1G>T
ENST00000614259.1:n.475+1G>T
NM_000059.3:c.475+1G>T , LRG_293t1:c.475+1G>T	NP_000050.2:n.475+1G>T
XM_011535203.1:c.475+1G>T	XP_011533505.1:n.475+1G>T
XM_011535204.1:c.475+1G>T	XP_011533506.1:n.475+1G>T
XM_011535205.1:c.475+1G>T	XP_011533507.1:n.475+1G>T
NM_000059.4:c.475+1G>T MANE Select	NP_000050.3:n.475+1G>T