Canonical Allele Identifier: CA2499222340

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376766del , CM000675.2:g.32376766del	GRCh38
NC_000013.10:g.32950903del , CM000675.1:g.32950903del	GRCh37
NC_000013.9:g.31848903del	NCBI36
NG_012772.3:g.66287del , LRG_293:g.66287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8729del	ENSP00000434898.2:p.Asn2910MetfsTer17
ENST00000528762.2:c.*96del	ENSP00000433168.2:n.*96del
ENST00000530893.7:c.8360del	ENSP00000499438.2:p.Asn2787MetfsTer17
ENST00000665585.2:c.*291del	ENSP00000499570.2:n.*291del
ENST00000666593.2:c.8729del	ENSP00000499256.2:p.Asn2910MetfsTer17
ENST00000700202.2:c.8729del	ENSP00000514856.2:p.Asn2910MetfsTer17
ENST00000700202.1:c.1196del	ENSP00000514856.1:p.Asn399MetfsTer17
ENST00000700203.1:n.856del
ENST00000380152.8:c.8729del MANE Select	ENSP00000369497.3:p.Asn2910MetfsTer17
ENST00000544455.6:c.8729del	ENSP00000439902.1:p.Asn2910MetfsTer17
ENST00000614259.2:c.8737del	ENSP00000506251.1:n.8737del
ENST00000665585.1:c.1607del
ENST00000680887.1:c.8729del	ENSP00000505508.1:p.Asn2910MetfsTer17
ENST00000380152.7:c.8729del	ENSP00000369497.3:p.Asn2910MetfsTer17
ENST00000528762.1:c.291del	ENSP00000433168.1:n.291del
ENST00000544455.5:c.8729del	ENSP00000439902.1:p.Asn2910MetfsTer17
NM_000059.3:c.8729del , LRG_293t1:c.8729del	NP_000050.2:p.Asn2910MetfsTer17
XM_011535203.1:c.8729del	XP_011533505.1:p.Asn2910MetfsTer17
XM_011535204.1:c.8633del	XP_011533506.1:p.Asn2878MetfsTer17
XM_011535205.1:c.8729del	XP_011533507.1:p.Asn2910MetfsTer?
NM_000059.4:c.8729del MANE Select	NP_000050.3:p.Asn2910MetfsTer17