Canonical Allele Identifier: CA2695217949

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379415del , CM000675.2:g.32379415del	GRCh38
NC_000013.10:g.32953552del , CM000675.1:g.32953552del	GRCh37
NC_000013.9:g.31851552del	NCBI36
NG_012772.3:g.68936del , LRG_293:g.68936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8853del	ENSP00000434898.2:p.Met2952TrpfsTer24
ENST00000528762.2:c.*220del	ENSP00000433168.2:n.*220del
ENST00000530893.7:c.8484del	ENSP00000499438.2:p.Met2829TrpfsTer24
ENST00000665585.2:c.*415del	ENSP00000499570.2:n.*415del
ENST00000666593.2:c.8853del	ENSP00000499256.2:p.Met2952TrpfsTer24
ENST00000700202.2:c.8853del	ENSP00000514856.2:p.Met2952TrpfsTer24
ENST00000700202.1:c.1320del	ENSP00000514856.1:p.Met441TrpfsTer24
ENST00000700203.1:n.980del
ENST00000380152.8:c.8853del MANE Select	ENSP00000369497.3:p.Met2952TrpfsTer24
ENST00000544455.6:c.8853del	ENSP00000439902.1:p.Met2952TrpfsTer24
ENST00000614259.2:c.8861del	ENSP00000506251.1:n.8861del
ENST00000665585.1:c.1731del
ENST00000680887.1:c.8853del	ENSP00000505508.1:p.Met2952TrpfsTer24
ENST00000380152.7:c.8853del	ENSP00000369497.3:p.Met2952TrpfsTer24
ENST00000528762.1:c.415del	ENSP00000433168.1:n.415del
ENST00000544455.5:c.8853del	ENSP00000439902.1:p.Met2952TrpfsTer24
NM_000059.3:c.8853del , LRG_293t1:c.8853del	NP_000050.2:p.Met2952TrpfsTer24
XM_011535203.1:c.8853del	XP_011533505.1:p.Met2952TrpfsTer24
XM_011535204.1:c.8757del	XP_011533506.1:p.Met2920TrpfsTer24
XM_011535205.1:c.8755-335del	XP_011533507.1:n.8755-335del
NM_000059.4:c.8853del MANE Select	NP_000050.3:p.Met2952TrpfsTer24