Canonical Allele Identifier: CA012794

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 96767
• ClinVar RCV Id: RCV003492433 ; RCV003945032
• dbSNP Id: rs11571587
• ExAC: 13:32893305 AAAC / A
• gnomAD v2: 13-32893305-AAAC-A
• gnomAD v3: 13-32319168-AAAC-A
• gnomAD v4: 13-32319168-AAAC-A
• MyVariant Identifiers: chr13:g.32893311_32893313del (hg19) ; chr13:g.32893306_32893308del (hg19) ; chr13:g.32319174_32319176del (hg38) ; chr13:g.32319169_32319171del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319174_32319176del , CM000675.2:g.32319174_32319176del	GRCh38
NC_000013.10:g.32893311_32893313del , CM000675.1:g.32893311_32893313del	GRCh37
NC_000013.9:g.31791311_31791313del	NCBI36
NG_012772.3:g.8695_8697del , LRG_293:g.8695_8697del
NG_017006.2:g.1193_1195del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.165_167del	ENSP00000434898.2:p.Asn56del
ENST00000528762.2:c.165_167del	ENSP00000433168.2:p.Asn56del
ENST00000530893.7:c.-205_-203del	ENSP00000499438.2:n.-205_-203del
ENST00000665585.2:c.165_167del	ENSP00000499570.2:p.Asn56del
ENST00000666593.2:c.165_167del	ENSP00000499256.2:p.Asn56del
ENST00000700202.2:c.165_167del	ENSP00000514856.2:p.Asn56del
ENST00000700200.1:n.191+2647_191+2649del
ENST00000700201.1:c.165_167del	ENSP00000514855.1:p.Asn56del
ENST00000380152.8:c.165_167del MANE Select	ENSP00000369497.3:p.Asn56del
ENST00000544455.6:c.165_167del	ENSP00000439902.1:p.Asn56del
ENST00000614259.2:c.165_167del	ENSP00000506251.1:p.Asn56del
ENST00000680887.1:c.165_167del	ENSP00000505508.1:p.Asn56del
ENST00000380152.7:c.165_167del	ENSP00000369497.3:p.Asn56del
ENST00000530893.6:n.363_365del
ENST00000544455.5:c.165_167del	ENSP00000439902.1:p.Asn56del
ENST00000614259.1:n.165_167del
NM_000059.3:c.165_167del , LRG_293t1:c.165_167del	NP_000050.2:p.Asn56del
XM_011535203.1:c.165_167del	XP_011533505.1:p.Asn56del
XM_011535204.1:c.165_167del	XP_011533506.1:p.Asn56del
XM_011535205.1:c.165_167del	XP_011533507.1:p.Asn56del
NM_000059.4:c.165_167del MANE Select	NP_000050.3:p.Asn56del