Canonical Allele Identifier: CA025898

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52713
• ClinVar RCV Id: RCV000577546 ; RCV000661725 ; RCV001852962 ; RCV000771469
• dbSNP Id: rs397508024
• gnomAD v4: 13-32379751-T-TA
• MyVariant Identifiers: chr13:g.32953889dupA (hg19) ; chr13:g.32379752dupA (hg38)
• PubMed: PMID:16683254

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379752dup , CM000675.2:g.32379752dup	GRCh38
NC_000013.10:g.32953889dup , CM000675.1:g.32953889dup	GRCh37
NC_000013.9:g.31851889dup	NCBI36
NG_012772.3:g.69273dup , LRG_293:g.69273dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8956dup	ENSP00000434898.2:p.Ile2986AsnfsTer?
ENST00000528762.2:c.*323dup	ENSP00000433168.2:n.*323dup
ENST00000530893.7:c.8587dup	ENSP00000499438.2:p.Ile2863AsnfsTer?
ENST00000665585.2:c.*518dup	ENSP00000499570.2:n.*518dup
ENST00000666593.2:c.8956dup	ENSP00000499256.2:p.Ile2986AsnfsTer?
ENST00000700202.2:c.8954-49dup	ENSP00000514856.2:n.8954-49dup
ENST00000700202.1:c.1421-49dup	ENSP00000514856.1:n.1421-49dup
ENST00000700203.1:n.1083dup
ENST00000380152.8:c.8956dup MANE Select	ENSP00000369497.3:p.Ile2986AsnfsTer?
ENST00000544455.6:c.8956dup	ENSP00000439902.1:p.Ile2986AsnfsTer?
ENST00000614259.2:c.8964dup	ENSP00000506251.1:n.8964dup
ENST00000665585.1:c.1834dup
ENST00000680887.1:c.8956dup	ENSP00000505508.1:p.Ile2986AsnfsTer?
ENST00000380152.7:c.8956dup	ENSP00000369497.3:p.Ile2986AsnfsTer?
ENST00000544455.5:c.8956dup	ENSP00000439902.1:p.Ile2986AsnfsTer?
NM_000059.3:c.8956dup , LRG_293t1:c.8956dup	NP_000050.2:p.Ile2986AsnfsTer?
XM_011535203.1:c.8956dup	XP_011533505.1:p.Ile2986AsnfsTer?
XM_011535204.1:c.8860dup	XP_011533506.1:p.Ile2954AsnfsTer?
XM_011535205.1:c.8757dup	XP_011533507.1:p.Tyr2920IlefsTer?
NM_000059.4:c.8956dup MANE Select	NP_000050.3:p.Ile2986AsnfsTer?