Canonical Allele Identifier: CA025322

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52431
• ClinVar RCV Id: RCV000225658 ; RCV000496429
• dbSNP Id: rs397507943
• gnomAD v4: 13-32362600-T-TA
• MyVariant Identifiers: chr13:g.32936738dupA (hg19) ; chr13:g.32362601dupA (hg38)
• PubMed: PMID:21702907

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362601dup , CM000675.2:g.32362601dup	GRCh38
NC_000013.10:g.32936738dup , CM000675.1:g.32936738dup	GRCh37
NC_000013.9:g.31834738dup	NCBI36
NG_012772.3:g.52122dup , LRG_293:g.52122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7884dup	ENSP00000434898.2:p.Trp2629MetfsTer12
ENST00000528762.2:c.7884dup	ENSP00000433168.2:p.Trp2629MetfsTer12
ENST00000530893.7:c.7515dup	ENSP00000499438.2:p.Trp2506MetfsTer12
ENST00000665585.2:c.7884dup	ENSP00000499570.2:p.Trp2629MetfsTer12
ENST00000666593.2:c.7884dup	ENSP00000499256.2:p.Trp2629MetfsTer12
ENST00000700202.2:c.7884dup	ENSP00000514856.2:p.Trp2629MetfsTer12
ENST00000700202.1:c.351dup	ENSP00000514856.1:p.Trp118MetfsTer12
ENST00000380152.8:c.7884dup MANE Select	ENSP00000369497.3:p.Trp2629MetfsTer12
ENST00000544455.6:c.7884dup	ENSP00000439902.1:p.Trp2629MetfsTer12
ENST00000614259.2:c.7892dup	ENSP00000506251.1:p.Tyr2631Ter
ENST00000665585.1:c.449dup
ENST00000680887.1:c.7884dup	ENSP00000505508.1:p.Trp2629MetfsTer12
ENST00000380152.7:c.7884dup	ENSP00000369497.3:p.Trp2629MetfsTer12
ENST00000544455.5:c.7884dup	ENSP00000439902.1:p.Trp2629MetfsTer12
ENST00000614259.1:n.7892dup
NM_000059.3:c.7884dup , LRG_293t1:c.7884dup	NP_000050.2:p.Trp2629MetfsTer12
XM_011535203.1:c.7884dup	XP_011533505.1:p.Trp2629MetfsTer12
XM_011535204.1:c.7788dup	XP_011533506.1:p.Trp2597MetfsTer12
XM_011535205.1:c.7884dup	XP_011533507.1:p.Trp2629MetfsTer12
NM_000059.4:c.7884dup MANE Select	NP_000050.3:p.Trp2629MetfsTer12