Canonical Allele Identifier: CA025141

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52352
• ClinVar RCV Id: RCV000241012
• dbSNP Id: rs397507920
• MyVariant Identifiers: chr13:g.32930673del (hg19) ; chr13:g.32356536del (hg38)
• PubMed: PMID:23034506

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356536del , CM000675.2:g.32356536del	GRCh38
NC_000013.10:g.32930673del , CM000675.1:g.32930673del	GRCh37
NC_000013.9:g.31828673del	NCBI36
NG_012772.3:g.46057del , LRG_293:g.46057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7544del	ENSP00000434898.2:p.Thr2515AsnfsTer9
ENST00000528762.2:c.7544del	ENSP00000433168.2:p.Thr2515AsnfsTer9
ENST00000530893.7:c.7175del	ENSP00000499438.2:p.Thr2392AsnfsTer9
ENST00000665585.2:c.7544del	ENSP00000499570.2:p.Thr2515AsnfsTer9
ENST00000666593.2:c.7544del	ENSP00000499256.2:p.Thr2515AsnfsTer9
ENST00000700202.2:c.7544del	ENSP00000514856.2:p.Thr2515AsnfsTer9
ENST00000700202.1:c.11del	ENSP00000514856.1:p.Thr4AsnfsTer9
ENST00000380152.8:c.7544del MANE Select	ENSP00000369497.3:p.Thr2515AsnfsTer9
ENST00000544455.6:c.7544del	ENSP00000439902.1:p.Thr2515AsnfsTer9
ENST00000614259.2:c.7544del	ENSP00000506251.1:p.Thr2515AsnfsTer9
ENST00000665585.1:c.109del
ENST00000680887.1:c.7544del	ENSP00000505508.1:p.Thr2515AsnfsTer9
ENST00000380152.7:c.7544del	ENSP00000369497.3:p.Thr2515AsnfsTer9
ENST00000544455.5:c.7544del	ENSP00000439902.1:p.Thr2515AsnfsTer9
ENST00000614259.1:n.7544del
NM_000059.3:c.7544del , LRG_293t1:c.7544del	NP_000050.2:p.Thr2515AsnfsTer9
XM_011535203.1:c.7544del	XP_011533505.1:p.Thr2515AsnfsTer9
XM_011535204.1:c.7448del	XP_011533506.1:p.Thr2483AsnfsTer9
XM_011535205.1:c.7544del	XP_011533507.1:p.Thr2515AsnfsTer9
NM_000059.4:c.7544del MANE Select	NP_000050.3:p.Thr2515AsnfsTer9