Canonical Allele Identifier: CA1139770833

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379328_32379329del , CM000675.2:g.32379328_32379329del	GRCh38
NC_000013.10:g.32953465_32953466del , CM000675.1:g.32953465_32953466del	GRCh37
NC_000013.9:g.31851465_31851466del	NCBI36
NG_012772.3:g.68849_68850del , LRG_293:g.68849_68850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8766_8767del	ENSP00000434898.2:p.Ser2922ArgfsTer9
ENST00000528762.2:c.*133_*134del	ENSP00000433168.2:n.*133_*134del
ENST00000530893.7:c.8397_8398del	ENSP00000499438.2:p.Ser2799ArgfsTer9
ENST00000665585.2:c.*328_*329del	ENSP00000499570.2:n.*328_*329del
ENST00000666593.2:c.8766_8767del	ENSP00000499256.2:p.Ser2922ArgfsTer9
ENST00000700202.2:c.8766_8767del	ENSP00000514856.2:p.Ser2922ArgfsTer9
ENST00000700202.1:c.1233_1234del	ENSP00000514856.1:p.Ser411ArgfsTer9
ENST00000700203.1:n.893_894del
ENST00000380152.8:c.8766_8767del MANE Select	ENSP00000369497.3:p.Ser2922ArgfsTer9
ENST00000544455.6:c.8766_8767del	ENSP00000439902.1:p.Ser2922ArgfsTer9
ENST00000614259.2:c.8774_8775del	ENSP00000506251.1:n.8774_8775del
ENST00000665585.1:c.1644_1645del
ENST00000680887.1:c.8766_8767del	ENSP00000505508.1:p.Ser2922ArgfsTer9
ENST00000380152.7:c.8766_8767del	ENSP00000369497.3:p.Ser2922ArgfsTer9
ENST00000528762.1:c.328_329del	ENSP00000433168.1:n.328_329del
ENST00000544455.5:c.8766_8767del	ENSP00000439902.1:p.Ser2922ArgfsTer9
NM_000059.3:c.8766_8767del , LRG_293t1:c.8766_8767del	NP_000050.2:p.Ser2922ArgfsTer9
XM_011535203.1:c.8766_8767del	XP_011533505.1:p.Ser2922ArgfsTer9
XM_011535204.1:c.8670_8671del	XP_011533506.1:p.Ser2890ArgfsTer9
XM_011535205.1:c.8755-422_8755-421del	XP_011533507.1:n.8755-422_8755-421del
NM_000059.4:c.8766_8767del MANE Select	NP_000050.3:p.Ser2922ArgfsTer9