Canonical Allele Identifier: CA010554

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 91744
• ClinVar RCV Id: RCV000077652 ; RCV000129127 ; RCV000160262 ; RCV000458506 ; RCV000985459
• dbSNP Id: rs80358405
• ExAC: 13:32972890 A / G
• gnomAD v2: 13-32972890-A-G
• gnomAD v3: 13-32398753-A-G
• gnomAD v4: 13-32398753-A-G
• MyVariant Identifiers: chr13:g.32972890A>G (hg19) ; chr13:g.32398753A>G (hg38)
• PubMed: PMID:24372583 ; PMID:27211102

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398753A>G , CM000675.2:g.32398753A>G	GRCh38
NC_000013.10:g.32972890A>G , CM000675.1:g.32972890A>G	GRCh37
NC_000013.9:g.31870890A>G	NCBI36
NG_012772.3:g.88274A>G , LRG_293:g.88274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*763A>G	ENSP00000434898.2:n.*763A>G
ENST00000528762.2:c.*1607A>G	ENSP00000433168.2:n.*1607A>G
ENST00000530893.7:c.9871A>G	ENSP00000499438.2:p.Thr3291Ala
ENST00000665585.2:c.*1802A>G	ENSP00000499570.2:n.*1802A>G
ENST00000700202.2:c.10189A>G	ENSP00000514856.2:p.Thr3397Ala
ENST00000700202.1:c.2656A>G	ENSP00000514856.1:p.Thr886Ala
ENST00000700203.1:n.2367A>G
ENST00000380152.8:c.10240A>G MANE Select	ENSP00000369497.3:p.Thr3414Ala
ENST00000544455.6:c.10240A>G	ENSP00000439902.1:p.Thr3414Ala
ENST00000614259.2:c.10248A>G	ENSP00000506251.1:n.10248A>G
ENST00000680887.1:c.10240A>G	ENSP00000505508.1:p.Thr3414Ala
ENST00000380152.7:c.10240A>G	ENSP00000369497.3:p.Thr3414Ala
ENST00000544455.5:c.10240A>G	ENSP00000439902.1:p.Thr3414Ala
NM_000059.3:c.10240A>G , LRG_293t1:c.10240A>G	NP_000050.2:p.Thr3414Ala
XM_011535203.1:c.10240A>G	XP_011533505.1:p.Thr3414Ala
XM_011535204.1:c.10144A>G	XP_011533506.1:p.Thr3382Ala
NM_000059.4:c.10240A>G MANE Select	NP_000050.3:p.Thr3414Ala