Canonical Allele Identifier: CA2825002163

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 3148685
• ClinVar RCV Id: RCV004442579

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379383del , CM000675.2:g.32379383del	GRCh38
NC_000013.10:g.32953520del , CM000675.1:g.32953520del	GRCh37
NC_000013.9:g.31851520del	NCBI36
NG_012772.3:g.68904del , LRG_293:g.68904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8821del	ENSP00000434898.2:p.Gln2941LysfsTer?
ENST00000528762.2:c.*188del	ENSP00000433168.2:n.*188del
ENST00000530893.7:c.8452del	ENSP00000499438.2:p.Gln2818LysfsTer?
ENST00000665585.2:c.*383del	ENSP00000499570.2:n.*383del
ENST00000666593.2:c.8821del	ENSP00000499256.2:p.Gln2941LysfsTer?
ENST00000700202.2:c.8821del	ENSP00000514856.2:p.Gln2941LysfsTer?
ENST00000700202.1:c.1288del	ENSP00000514856.1:p.Gln430LysfsTer?
ENST00000700203.1:n.948del
ENST00000380152.8:c.8821del MANE Select	ENSP00000369497.3:p.Gln2941LysfsTer?
ENST00000544455.6:c.8821del	ENSP00000439902.1:p.Gln2941LysfsTer?
ENST00000614259.2:c.8829del	ENSP00000506251.1:n.8829del
ENST00000665585.1:c.1699del
ENST00000680887.1:c.8821del	ENSP00000505508.1:p.Gln2941LysfsTer?
ENST00000380152.7:c.8821del	ENSP00000369497.3:p.Gln2941LysfsTer?
ENST00000528762.1:c.383del	ENSP00000433168.1:n.383del
ENST00000544455.5:c.8821del	ENSP00000439902.1:p.Gln2941LysfsTer?
NM_000059.3:c.8821del , LRG_293t1:c.8821del	NP_000050.2:p.Gln2941LysfsTer?
XM_011535203.1:c.8821del	XP_011533505.1:p.Gln2941LysfsTer?
XM_011535204.1:c.8725del	XP_011533506.1:p.Gln2909LysfsTer?
XM_011535205.1:c.8755-367del	XP_011533507.1:n.8755-367del
NM_000059.4:c.8821del MANE Select	NP_000050.3:p.Gln2941LysfsTer?