Canonical Allele Identifier: CA2838032555

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379752_32379756del , CM000675.2:g.32379752_32379756del	GRCh38
NC_000013.10:g.32953889_32953893del , CM000675.1:g.32953889_32953893del	GRCh37
NC_000013.9:g.31851889_31851893del	NCBI36
NG_012772.3:g.69273_69277del , LRG_293:g.69273_69277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8956_8960del	ENSP00000434898.2:p.Ile2986GlufsTer30
ENST00000528762.2:c.*323_*327del	ENSP00000433168.2:n.*323_*327del
ENST00000530893.7:c.8587_8591del	ENSP00000499438.2:p.Ile2863GlufsTer30
ENST00000665585.2:c.*518_*522del	ENSP00000499570.2:n.*518_*522del
ENST00000666593.2:c.8956_8960del	ENSP00000499256.2:p.Ile2986GlufsTer30
ENST00000700202.2:c.8954-49_8954-45del	ENSP00000514856.2:n.8954-49_8954-45del
ENST00000700202.1:c.1421-49_1421-45del	ENSP00000514856.1:n.1421-49_1421-45del
ENST00000700203.1:n.1083_1087del
ENST00000380152.8:c.8956_8960del MANE Select	ENSP00000369497.3:p.Ile2986GlufsTer30
ENST00000544455.6:c.8956_8960del	ENSP00000439902.1:p.Ile2986GlufsTer30
ENST00000614259.2:c.8964_8968del	ENSP00000506251.1:n.8964_8968del
ENST00000665585.1:c.1834_1838del
ENST00000680887.1:c.8956_8960del	ENSP00000505508.1:p.Ile2986GlufsTer30
ENST00000380152.7:c.8956_8960del	ENSP00000369497.3:p.Ile2986GlufsTer30
ENST00000544455.5:c.8956_8960del	ENSP00000439902.1:p.Ile2986GlufsTer30
NM_000059.3:c.8956_8960del , LRG_293t1:c.8956_8960del	NP_000050.2:p.Ile2986GlufsTer30
XM_011535203.1:c.8956_8960del	XP_011533505.1:p.Ile2986GlufsTer30
XM_011535204.1:c.8860_8864del	XP_011533506.1:p.Ile2954GlufsTer30
XM_011535205.1:c.8757_8761del	XP_011533507.1:p.Tyr2920SerfsTer?
NM_000059.4:c.8956_8960del MANE Select	NP_000050.3:p.Ile2986GlufsTer30