Canonical Allele Identifier: CA919242750

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566221387

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330966_32330967del , CM000675.2:g.32330966_32330967del	GRCh38
NC_000013.10:g.32905103_32905104del , CM000675.1:g.32905103_32905104del	GRCh37
NC_000013.9:g.31803103_31803104del	NCBI36
NG_012772.3:g.20487_20488del , LRG_293:g.20487_20488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.729_730del	ENSP00000434898.2:p.Asn243LysfsTer2
ENST00000528762.2:c.729_730del	ENSP00000433168.2:p.Asn243LysfsTer2
ENST00000530893.7:c.360_361del	ENSP00000499438.2:p.Asn120LysfsTer2
ENST00000665585.2:c.729_730del	ENSP00000499570.2:p.Asn243LysfsTer2
ENST00000666593.2:c.729_730del	ENSP00000499256.2:p.Asn243LysfsTer2
ENST00000700202.2:c.729_730del	ENSP00000514856.2:p.Asn243LysfsTer2
ENST00000700201.1:c.*508_*509del	ENSP00000514855.1:n.*508_*509del
ENST00000380152.8:c.729_730del MANE Select	ENSP00000369497.3:p.Asn243LysfsTer2
ENST00000544455.6:c.729_730del	ENSP00000439902.1:p.Asn243LysfsTer2
ENST00000614259.2:c.729_730del	ENSP00000506251.1:p.Asn243LysfsTer2
ENST00000680887.1:c.729_730del	ENSP00000505508.1:p.Asn243LysfsTer2
ENST00000380152.7:c.729_730del	ENSP00000369497.3:p.Asn243LysfsTer2
ENST00000530893.6:n.927_928del
ENST00000544455.5:c.729_730del	ENSP00000439902.1:p.Asn243LysfsTer2
ENST00000614259.1:n.729_730del
NM_000059.3:c.729_730del , LRG_293t1:c.729_730del	NP_000050.2:p.Asn243LysfsTer2
XM_011535203.1:c.729_730del	XP_011533505.1:p.Asn243LysfsTer2
XM_011535204.1:c.729_730del	XP_011533506.1:p.Asn243LysfsTer2
XM_011535205.1:c.729_730del	XP_011533507.1:p.Asn243LysfsTer2
NM_000059.4:c.729_730del MANE Select	NP_000050.3:p.Asn243LysfsTer2