Canonical Allele Identifier: CA1164705380

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319205del , CM000675.2:g.32319205del	GRCh38
NC_000013.10:g.32893342del , CM000675.1:g.32893342del	GRCh37
NC_000013.9:g.31791342del	NCBI36
NG_012772.3:g.8726del , LRG_293:g.8726del
NG_017006.2:g.1159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.196del	ENSP00000434898.2:p.Gln66LysfsTer14
ENST00000528762.2:c.196del	ENSP00000433168.2:p.Gln66LysfsTer14
ENST00000530893.7:c.-174del	ENSP00000499438.2:n.-174del
ENST00000665585.2:c.196del	ENSP00000499570.2:p.Gln66LysfsTer14
ENST00000666593.2:c.196del	ENSP00000499256.2:p.Gln66LysfsTer14
ENST00000700202.2:c.196del	ENSP00000514856.2:p.Gln66LysfsTer14
ENST00000700200.1:n.191+2678del
ENST00000700201.1:c.196del	ENSP00000514855.1:p.Gln66LysfsTer14
ENST00000380152.8:c.196del MANE Select	ENSP00000369497.3:p.Gln66LysfsTer14
ENST00000544455.6:c.196del	ENSP00000439902.1:p.Gln66LysfsTer14
ENST00000614259.2:c.196del	ENSP00000506251.1:p.Gln66LysfsTer14
ENST00000680887.1:c.196del	ENSP00000505508.1:p.Gln66LysfsTer14
ENST00000380152.7:c.196del	ENSP00000369497.3:p.Gln66LysfsTer14
ENST00000530893.6:n.394del
ENST00000544455.5:c.196del	ENSP00000439902.1:p.Gln66LysfsTer14
ENST00000614259.1:n.196del
NM_000059.3:c.196del , LRG_293t1:c.196del	NP_000050.2:p.Gln66LysfsTer14
XM_011535203.1:c.196del	XP_011533505.1:p.Gln66LysfsTer14
XM_011535204.1:c.196del	XP_011533506.1:p.Gln66LysfsTer14
XM_011535205.1:c.196del	XP_011533507.1:p.Gln66LysfsTer14
NM_000059.4:c.196del MANE Select	NP_000050.3:p.Gln66LysfsTer14