Canonical Allele Identifier: CA913190902

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 125982
• ClinVar RCV Id: RCV000113047
• dbSNP Id: rs1566226797

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336831_32336836del , CM000675.2:g.32336831_32336836del	GRCh38
NC_000013.10:g.32910968_32910973del , CM000675.1:g.32910968_32910973del	GRCh37
NC_000013.9:g.31808968_31808973del	NCBI36
NG_012772.3:g.26352_26357del , LRG_293:g.26352_26357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2476_2481del	ENSP00000434898.2:p.Glu826_Asn827del
ENST00000528762.2:c.2476_2481del	ENSP00000433168.2:p.Glu826_Asn827del
ENST00000530893.7:c.2107_2112del	ENSP00000499438.2:p.Glu703_Asn704del
ENST00000665585.2:c.2476_2481del	ENSP00000499570.2:p.Glu826_Asn827del
ENST00000666593.2:c.2476_2481del	ENSP00000499256.2:p.Glu826_Asn827del
ENST00000700202.2:c.2476_2481del	ENSP00000514856.2:p.Glu826_Asn827del
ENST00000380152.8:c.2476_2481del MANE Select	ENSP00000369497.3:p.Glu826_Asn827del
ENST00000544455.6:c.2476_2481del	ENSP00000439902.1:p.Glu826_Asn827del
ENST00000614259.2:c.2476_2481del	ENSP00000506251.1:p.Glu826_Asn827del
ENST00000680887.1:c.2476_2481del	ENSP00000505508.1:p.Glu826_Asn827del
ENST00000380152.7:c.2476_2481del	ENSP00000369497.3:p.Glu826_Asn827del
ENST00000544455.5:c.2476_2481del	ENSP00000439902.1:p.Glu826_Asn827del
ENST00000614259.1:n.2476_2481del
NM_000059.3:c.2476_2481del , LRG_293t1:c.2476_2481del	NP_000050.2:p.Glu826_Asn827del
XM_011535203.1:c.2476_2481del	XP_011533505.1:p.Glu826_Asn827del
XM_011535204.1:c.2476_2481del	XP_011533506.1:p.Glu826_Asn827del
XM_011535205.1:c.2476_2481del	XP_011533507.1:p.Glu826_Asn827del
NM_000059.4:c.2476_2481del MANE Select	NP_000050.3:p.Glu826_Asn827del