Canonical Allele Identifier: CA010501

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51056
• ClinVar RCV Id: RCV000043728 ; RCV000112851 ; RCV000131732 ; RCV000212295 ; RCV000759573
• dbSNP Id: rs80358402
• ExAC: 13:32972872 A / T
• gnomAD v2: 13-32972872-A-T
• gnomAD v3: 13-32398735-A-T
• gnomAD v4: 13-32398735-A-T
• MyVariant Identifiers: chr13:g.32972872A>T (hg19) ; chr13:g.32398735A>T (hg38)
• PubMed: PMID:10923033 ; PMID:20104584

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398735A>T , CM000675.2:g.32398735A>T	GRCh38
NC_000013.10:g.32972872A>T , CM000675.1:g.32972872A>T	GRCh37
NC_000013.9:g.31870872A>T	NCBI36
NG_012772.3:g.88256A>T , LRG_293:g.88256A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*745A>T	ENSP00000434898.2:n.*745A>T
ENST00000528762.2:c.*1589A>T	ENSP00000433168.2:n.*1589A>T
ENST00000530893.7:c.9853A>T	ENSP00000499438.2:p.Lys3285Ter
ENST00000665585.2:c.*1784A>T	ENSP00000499570.2:n.*1784A>T
ENST00000700202.2:c.10171A>T	ENSP00000514856.2:p.Lys3391Ter
ENST00000700202.1:c.2638A>T	ENSP00000514856.1:p.Lys880Ter
ENST00000700203.1:n.2349A>T
ENST00000380152.8:c.10222A>T MANE Select	ENSP00000369497.3:p.Lys3408Ter
ENST00000544455.6:c.10222A>T	ENSP00000439902.1:p.Lys3408Ter
ENST00000614259.2:c.10230A>T	ENSP00000506251.1:n.10230A>T
ENST00000680887.1:c.10222A>T	ENSP00000505508.1:p.Lys3408Ter
ENST00000380152.7:c.10222A>T	ENSP00000369497.3:p.Lys3408Ter
ENST00000544455.5:c.10222A>T	ENSP00000439902.1:p.Lys3408Ter
NM_000059.3:c.10222A>T , LRG_293t1:c.10222A>T	NP_000050.2:p.Lys3408Ter
XM_011535203.1:c.10222A>T	XP_011533505.1:p.Lys3408Ter
XM_011535204.1:c.10126A>T	XP_011533506.1:p.Lys3376Ter
NM_000059.4:c.10222A>T MANE Select	NP_000050.3:p.Lys3408Ter