Canonical Allele Identifier: CA609454021

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566260131
• gnomAD v2: 13-32971078-AT-A
• gnomAD v4: 13-32396941-AT-A
• MyVariant Identifiers: chr13:g.32971079del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396942del , CM000675.2:g.32396942del	GRCh38
NC_000013.10:g.32971079del , CM000675.1:g.32971079del	GRCh37
NC_000013.9:g.31869079del	NCBI36
NG_012772.3:g.86463del , LRG_293:g.86463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*69del	ENSP00000434898.2:n.*69del
ENST00000528762.2:c.*913del	ENSP00000433168.2:n.*913del
ENST00000530893.7:c.9177del	ENSP00000499438.2:p.His3059GlnfsTer?
ENST00000665585.2:c.*1108del	ENSP00000499570.2:n.*1108del
ENST00000700202.2:c.9495del	ENSP00000514856.2:p.His3165GlnfsTer?
ENST00000700202.1:c.1962del	ENSP00000514856.1:p.His654GlnfsTer?
ENST00000700203.1:n.1673del
ENST00000380152.8:c.9546del MANE Select	ENSP00000369497.3:p.His3182GlnfsTer?
ENST00000544455.6:c.9546del	ENSP00000439902.1:p.His3182GlnfsTer?
ENST00000614259.2:c.9554del	ENSP00000506251.1:n.9554del
ENST00000665585.1:c.2424del
ENST00000680887.1:c.9546del	ENSP00000505508.1:p.His3182GlnfsTer?
ENST00000380152.7:c.9546del	ENSP00000369497.3:p.His3182GlnfsTer?
ENST00000470094.1:c.629del
ENST00000533776.1:n.134del
ENST00000544455.5:c.9546del	ENSP00000439902.1:p.His3182GlnfsTer?
NM_000059.3:c.9546del , LRG_293t1:c.9546del	NP_000050.2:p.His3182GlnfsTer?
XM_011535203.1:c.9546del	XP_011533505.1:p.His3182GlnfsTer?
XM_011535204.1:c.9450del	XP_011533506.1:p.His3150GlnfsTer?
NM_000059.4:c.9546del MANE Select	NP_000050.3:p.His3182GlnfsTer?