Canonical Allele Identifier: CA915946913

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 719336
• ClinVar RCV Id: RCV000892454
• dbSNP Id: rs1593879808

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315651del , CM000675.2:g.32315651del	GRCh38
NC_000013.10:g.32889788del , CM000675.1:g.32889788del	GRCh37
NC_000013.9:g.31787788del	NCBI36
NG_012772.3:g.5172del , LRG_293:g.5172del
NG_017006.1:g.1304del
NG_017006.2:g.4713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-56del	ENSP00000434898.2:n.-56del
ENST00000528762.2:c.-56del	ENSP00000433168.2:n.-56del
ENST00000530893.7:c.-421del	ENSP00000499438.2:n.-421del
ENST00000665585.2:c.-56del	ENSP00000499570.2:n.-56del
ENST00000666593.2:c.-56del	ENSP00000499256.2:n.-56del
ENST00000700202.2:c.-56del	ENSP00000514856.2:n.-56del
ENST00000700199.1:n.69del
ENST00000700200.1:n.69del
ENST00000700201.1:c.-56del	ENSP00000514855.1:n.-56del
ENST00000380152.8:c.-56del MANE Select	ENSP00000369497.3:n.-56del
ENST00000544455.6:c.-40+506del	ENSP00000439902.1:n.-40+506del
ENST00000380152.7:c.-56del	ENSP00000369497.3:n.-56del
ENST00000530893.6:n.147del
ENST00000544455.5:c.-56del	ENSP00000439902.1:n.-56del
NM_000059.3:c.-56del , LRG_293t1:c.-56del	NP_000050.2:n.-56del
XM_011535203.1:c.-40+506del	XP_011533505.1:n.-40+506del
XM_011535204.1:c.-56del	XP_011533506.1:n.-56del
XM_011535205.1:c.-56del	XP_011533507.1:n.-56del
NM_000059.4:c.-56del MANE Select	NP_000050.3:n.-56del