Canonical Allele Identifier: CA025921

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52725
• ClinVar RCV Id: RCV000045686 ; RCV000074558 ; RCV000083151 ; RCV000129004 ; RCV000656809
• dbSNP Id: rs80359153
• gnomAD v4: 13-32379802-A-T
• MyVariant Identifiers: chr13:g.32953939A>T (hg19) ; chr13:g.32379802A>T (hg38)
• PubMed: PMID:10923033 ; PMID:19043619 ; PMID:22632462 ; PMID:22771033 ; PMID:23108138 ; PMID:25382762 ; PMID:25583476 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379802A>T , CM000675.2:g.32379802A>T	GRCh38
NC_000013.10:g.32953939A>T , CM000675.1:g.32953939A>T	GRCh37
NC_000013.9:g.31851939A>T	NCBI36
NG_012772.3:g.69323A>T , LRG_293:g.69323A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9006A>T	ENSP00000434898.2:p.Glu3002Asp
ENST00000528762.2:c.*373A>T	ENSP00000433168.2:n.*373A>T
ENST00000530893.7:c.8637A>T	ENSP00000499438.2:p.Glu2879Asp
ENST00000665585.2:c.*568A>T	ENSP00000499570.2:n.*568A>T
ENST00000666593.2:c.9006A>T	ENSP00000499256.2:p.Glu3002Asp
ENST00000700202.2:c.8955A>T	ENSP00000514856.2:p.Glu2985Asp
ENST00000700202.1:c.1422A>T	ENSP00000514856.1:p.Glu474Asp
ENST00000700203.1:n.1133A>T
ENST00000380152.8:c.9006A>T MANE Select	ENSP00000369497.3:p.Glu3002Asp
ENST00000544455.6:c.9006A>T	ENSP00000439902.1:p.Glu3002Asp
ENST00000614259.2:c.9014A>T	ENSP00000506251.1:n.9014A>T
ENST00000665585.1:c.1884A>T
ENST00000680887.1:c.9006A>T	ENSP00000505508.1:p.Glu3002Asp
ENST00000380152.7:c.9006A>T	ENSP00000369497.3:p.Glu3002Asp
ENST00000544455.5:c.9006A>T	ENSP00000439902.1:p.Glu3002Asp
NM_000059.3:c.9006A>T , LRG_293t1:c.9006A>T	NP_000050.2:p.Glu3002Asp
XM_011535203.1:c.9006A>T	XP_011533505.1:p.Glu3002Asp
XM_011535204.1:c.8910A>T	XP_011533506.1:p.Glu2970Asp
XM_011535205.1:c.*44A>T	XP_011533507.1:n.*44A>T
NM_000059.4:c.9006A>T MANE Select	NP_000050.3:p.Glu3002Asp