Canonical Allele Identifier: CA10589521

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267112
• ClinVar RCV Id: RCV000257414
• dbSNP Id: rs886040797
• MyVariant Identifiers: chr13:g.32953586del (hg19) ; chr13:g.32379449del (hg38)
• PubMed: PMID:24156927

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379449del , CM000675.2:g.32379449del	GRCh38
NC_000013.10:g.32953586del , CM000675.1:g.32953586del	GRCh37
NC_000013.9:g.31851586del	NCBI36
NG_012772.3:g.68970del , LRG_293:g.68970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8887del	ENSP00000434898.2:p.Ser2963GlnfsTer13
ENST00000528762.2:c.*254del	ENSP00000433168.2:n.*254del
ENST00000530893.7:c.8518del	ENSP00000499438.2:p.Ser2840GlnfsTer13
ENST00000665585.2:c.*449del	ENSP00000499570.2:n.*449del
ENST00000666593.2:c.8887del	ENSP00000499256.2:p.Ser2963GlnfsTer13
ENST00000700202.2:c.8887del	ENSP00000514856.2:p.Ser2963GlnfsTer13
ENST00000700202.1:c.1354del	ENSP00000514856.1:p.Ser452GlnfsTer13
ENST00000700203.1:n.1014del
ENST00000380152.8:c.8887del MANE Select	ENSP00000369497.3:p.Ser2963GlnfsTer13
ENST00000544455.6:c.8887del	ENSP00000439902.1:p.Ser2963GlnfsTer13
ENST00000614259.2:c.8895del	ENSP00000506251.1:n.8895del
ENST00000665585.1:c.1765del
ENST00000680887.1:c.8887del	ENSP00000505508.1:p.Ser2963GlnfsTer13
ENST00000380152.7:c.8887del	ENSP00000369497.3:p.Ser2963GlnfsTer13
ENST00000528762.1:c.449del	ENSP00000433168.1:n.449del
ENST00000544455.5:c.8887del	ENSP00000439902.1:p.Ser2963GlnfsTer13
NM_000059.3:c.8887del , LRG_293t1:c.8887del	NP_000050.2:p.Ser2963GlnfsTer13
XM_011535203.1:c.8887del	XP_011533505.1:p.Ser2963GlnfsTer13
XM_011535204.1:c.8791del	XP_011533506.1:p.Ser2931GlnfsTer13
XM_011535205.1:c.8755-301del	XP_011533507.1:n.8755-301del
NM_000059.4:c.8887del MANE Select	NP_000050.3:p.Ser2963GlnfsTer13