Canonical Allele Identifier: CA10589248

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266798
• ClinVar RCV Id: RCV000257429
• dbSNP Id: rs886040517
• MyVariant Identifiers: chr13:g.32912756_32912762del (hg19) ; chr13:g.32338619_32338625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338619_32338625del , CM000675.2:g.32338619_32338625del	GRCh38
NC_000013.10:g.32912756_32912762del , CM000675.1:g.32912756_32912762del	GRCh37
NC_000013.9:g.31810756_31810762del	NCBI36
NG_012772.3:g.28140_28146del , LRG_293:g.28140_28146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4264_4270del	ENSP00000434898.2:p.Glu1422LeufsTer24
ENST00000528762.2:c.4264_4270del	ENSP00000433168.2:p.Glu1422LeufsTer24
ENST00000530893.7:c.3895_3901del	ENSP00000499438.2:p.Glu1299LeufsTer24
ENST00000665585.2:c.4264_4270del	ENSP00000499570.2:p.Glu1422LeufsTer24
ENST00000666593.2:c.4264_4270del	ENSP00000499256.2:p.Glu1422LeufsTer24
ENST00000700202.2:c.4264_4270del	ENSP00000514856.2:p.Glu1422LeufsTer24
ENST00000380152.8:c.4264_4270del MANE Select	ENSP00000369497.3:p.Glu1422LeufsTer24
ENST00000544455.6:c.4264_4270del	ENSP00000439902.1:p.Glu1422LeufsTer24
ENST00000614259.2:c.4264_4270del	ENSP00000506251.1:p.Glu1422LeufsTer24
ENST00000680887.1:c.4264_4270del	ENSP00000505508.1:p.Glu1422LeufsTer24
ENST00000380152.7:c.4264_4270del	ENSP00000369497.3:p.Glu1422LeufsTer24
ENST00000544455.5:c.4264_4270del	ENSP00000439902.1:p.Glu1422LeufsTer24
ENST00000614259.1:n.4264_4270del
NM_000059.3:c.4264_4270del , LRG_293t1:c.4264_4270del	NP_000050.2:p.Glu1422LeufsTer24
XM_011535203.1:c.4264_4270del	XP_011533505.1:p.Glu1422LeufsTer24
XM_011535204.1:c.4264_4270del	XP_011533506.1:p.Glu1422LeufsTer24
XM_011535205.1:c.4264_4270del	XP_011533507.1:p.Glu1422LeufsTer24
NM_000059.4:c.4264_4270del MANE Select	NP_000050.3:p.Glu1422LeufsTer24