Canonical Allele Identifier: CA025541

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52538
• ClinVar RCV Id: RCV000045463 ; RCV000113898 ; RCV000130435 ; RCV001582544
• dbSNP Id: rs80359072
• gnomAD v4: 13-32363456-A-T
• COSMIC: COSM5575339 ; COSM5575340
• MyVariant Identifiers: chr13:g.32937593A>T (hg19) ; chr13:g.32363456A>T (hg38)
• PubMed: PMID:10923033 ; PMID:19043619 ; PMID:21232165 ; PMID:22366370

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363456A>T , CM000675.2:g.32363456A>T	GRCh38
NC_000013.10:g.32937593A>T , CM000675.1:g.32937593A>T	GRCh37
NC_000013.9:g.31835593A>T	NCBI36
NG_012772.3:g.52977A>T , LRG_293:g.52977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8254A>T	ENSP00000434898.2:p.Ile2752Phe
ENST00000528762.2:c.8254A>T	ENSP00000433168.2:p.Ile2752Phe
ENST00000530893.7:c.7885A>T	ENSP00000499438.2:p.Ile2629Phe
ENST00000665585.2:c.8254A>T	ENSP00000499570.2:p.Ile2752Phe
ENST00000666593.2:c.8254A>T	ENSP00000499256.2:p.Ile2752Phe
ENST00000700202.2:c.8254A>T	ENSP00000514856.2:p.Ile2752Phe
ENST00000700202.1:c.721A>T	ENSP00000514856.1:p.Ile241Phe
ENST00000380152.8:c.8254A>T MANE Select	ENSP00000369497.3:p.Ile2752Phe
ENST00000544455.6:c.8254A>T	ENSP00000439902.1:p.Ile2752Phe
ENST00000614259.2:c.8262A>T	ENSP00000506251.1:n.8262A>T
ENST00000665585.1:c.819A>T
ENST00000680887.1:c.8254A>T	ENSP00000505508.1:p.Ile2752Phe
ENST00000380152.7:c.8254A>T	ENSP00000369497.3:p.Ile2752Phe
ENST00000544455.5:c.8254A>T	ENSP00000439902.1:p.Ile2752Phe
NM_000059.3:c.8254A>T , LRG_293t1:c.8254A>T	NP_000050.2:p.Ile2752Phe
XM_011535203.1:c.8254A>T	XP_011533505.1:p.Ile2752Phe
XM_011535204.1:c.8158A>T	XP_011533506.1:p.Ile2720Phe
XM_011535205.1:c.8254A>T	XP_011533507.1:p.Ile2752Phe
NM_000059.4:c.8254A>T MANE Select	NP_000050.3:p.Ile2752Phe