Canonical Allele Identifier: CA2727926669

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137663198

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398236del , CM000675.2:g.32398236del	GRCh38
NC_000013.10:g.32972373del , CM000675.1:g.32972373del	GRCh37
NC_000013.9:g.31870373del	NCBI36
NG_012772.3:g.87757del , LRG_293:g.87757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*246del	ENSP00000434898.2:n.*246del
ENST00000528762.2:c.*1090del	ENSP00000433168.2:n.*1090del
ENST00000530893.7:c.9354del	ENSP00000499438.2:p.Thr3119HisfsTer7
ENST00000665585.2:c.*1285del	ENSP00000499570.2:n.*1285del
ENST00000700202.2:c.9672del	ENSP00000514856.2:p.Thr3225HisfsTer7
ENST00000700202.1:c.2139del	ENSP00000514856.1:p.Thr714HisfsTer7
ENST00000700203.1:n.1850del
ENST00000380152.8:c.9723del MANE Select	ENSP00000369497.3:p.Thr3242HisfsTer7
ENST00000544455.6:c.9723del	ENSP00000439902.1:p.Thr3242HisfsTer7
ENST00000614259.2:c.9731del	ENSP00000506251.1:n.9731del
ENST00000680887.1:c.9723del	ENSP00000505508.1:p.Thr3242HisfsTer7
ENST00000380152.7:c.9723del	ENSP00000369497.3:p.Thr3242HisfsTer7
ENST00000470094.1:c.806del
ENST00000533776.1:n.311del
ENST00000544455.5:c.9723del	ENSP00000439902.1:p.Thr3242HisfsTer7
NM_000059.3:c.9723del , LRG_293t1:c.9723del	NP_000050.2:p.Thr3242HisfsTer7
XM_011535203.1:c.9723del	XP_011533505.1:p.Thr3242HisfsTer7
XM_011535204.1:c.9627del	XP_011533506.1:p.Thr3210HisfsTer7
NM_000059.4:c.9723del MANE Select	NP_000050.3:p.Thr3242HisfsTer7