Canonical Allele Identifier: CA10589508

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267098
• ClinVar RCV Id: RCV000256824 ; RCV001222582
• dbSNP Id: rs886040783
• MyVariant Identifiers: chr13:g.32945171del (hg19) ; chr13:g.32371034del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371034del , CM000675.2:g.32371034del	GRCh38
NC_000013.10:g.32945171del , CM000675.1:g.32945171del	GRCh37
NC_000013.9:g.31843171del	NCBI36
NG_012772.3:g.60555del , LRG_293:g.60555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8566del	ENSP00000434898.2:p.Glu2856ArgfsTer7
ENST00000528762.2:c.8566del	ENSP00000433168.2:p.Glu2856ArgfsTer7
ENST00000530893.7:c.8197del	ENSP00000499438.2:p.Glu2733ArgfsTer7
ENST00000665585.2:c.8566del	ENSP00000499570.2:p.Glu2856ArgfsTer7
ENST00000666593.2:c.8566del	ENSP00000499256.2:p.Glu2856ArgfsTer7
ENST00000700202.2:c.8566del	ENSP00000514856.2:p.Glu2856ArgfsTer7
ENST00000700202.1:c.1033del	ENSP00000514856.1:p.Glu345ArgfsTer7
ENST00000380152.8:c.8566del MANE Select	ENSP00000369497.3:p.Glu2856ArgfsTer7
ENST00000544455.6:c.8566del	ENSP00000439902.1:p.Glu2856ArgfsTer7
ENST00000614259.2:c.8574del	ENSP00000506251.1:n.8574del
ENST00000665585.1:c.1131del
ENST00000680887.1:c.8566del	ENSP00000505508.1:p.Glu2856ArgfsTer7
ENST00000380152.7:c.8566del	ENSP00000369497.3:p.Glu2856ArgfsTer7
ENST00000528762.1:c.64del	ENSP00000433168.1:p.Glu22ArgfsTer7
ENST00000544455.5:c.8566del	ENSP00000439902.1:p.Glu2856ArgfsTer7
NM_000059.3:c.8566del , LRG_293t1:c.8566del	NP_000050.2:p.Glu2856ArgfsTer7
XM_011535203.1:c.8566del	XP_011533505.1:p.Glu2856ArgfsTer7
XM_011535204.1:c.8470del	XP_011533506.1:p.Glu2824ArgfsTer7
XM_011535205.1:c.8566del	XP_011533507.1:p.Glu2856ArgfsTer7
NM_000059.4:c.8566del MANE Select	NP_000050.3:p.Glu2856ArgfsTer7