Canonical Allele Identifier: CA2825002165

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 3229471
• ClinVar RCV Id: RCV004525049

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379417del , CM000675.2:g.32379417del	GRCh38
NC_000013.10:g.32953554del , CM000675.1:g.32953554del	GRCh37
NC_000013.9:g.31851554del	NCBI36
NG_012772.3:g.68938del , LRG_293:g.68938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8855del	ENSP00000434898.2:p.Met2952ArgfsTer24
ENST00000528762.2:c.*222del	ENSP00000433168.2:n.*222del
ENST00000530893.7:c.8486del	ENSP00000499438.2:p.Met2829ArgfsTer24
ENST00000665585.2:c.*417del	ENSP00000499570.2:n.*417del
ENST00000666593.2:c.8855del	ENSP00000499256.2:p.Met2952ArgfsTer24
ENST00000700202.2:c.8855del	ENSP00000514856.2:p.Met2952ArgfsTer24
ENST00000700202.1:c.1322del	ENSP00000514856.1:p.Met441ArgfsTer24
ENST00000700203.1:n.982del
ENST00000380152.8:c.8855del MANE Select	ENSP00000369497.3:p.Met2952ArgfsTer24
ENST00000544455.6:c.8855del	ENSP00000439902.1:p.Met2952ArgfsTer24
ENST00000614259.2:c.8863del	ENSP00000506251.1:n.8863del
ENST00000665585.1:c.1733del
ENST00000680887.1:c.8855del	ENSP00000505508.1:p.Met2952ArgfsTer24
ENST00000380152.7:c.8855del	ENSP00000369497.3:p.Met2952ArgfsTer24
ENST00000528762.1:c.417del	ENSP00000433168.1:n.417del
ENST00000544455.5:c.8855del	ENSP00000439902.1:p.Met2952ArgfsTer24
NM_000059.3:c.8855del , LRG_293t1:c.8855del	NP_000050.2:p.Met2952ArgfsTer24
XM_011535203.1:c.8855del	XP_011533505.1:p.Met2952ArgfsTer24
XM_011535204.1:c.8759del	XP_011533506.1:p.Met2920ArgfsTer24
XM_011535205.1:c.8755-333del	XP_011533507.1:n.8755-333del
NM_000059.4:c.8855del MANE Select	NP_000050.3:p.Met2952ArgfsTer24