Canonical Allele Identifier: CA2082834494

Gene: BRCA2

Linked Data

• dbSNP Id: rs2073050038

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398238del , CM000675.2:g.32398238del	GRCh38
NC_000013.10:g.32972375del , CM000675.1:g.32972375del	GRCh37
NC_000013.9:g.31870375del	NCBI36
NG_012772.3:g.87759del , LRG_293:g.87759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*248del	ENSP00000434898.2:n.*248del
ENST00000528762.2:c.*1092del	ENSP00000433168.2:n.*1092del
ENST00000530893.7:c.9356del	ENSP00000499438.2:p.Thr3119AsnfsTer7
ENST00000665585.2:c.*1287del	ENSP00000499570.2:n.*1287del
ENST00000700202.2:c.9674del	ENSP00000514856.2:p.Thr3225AsnfsTer7
ENST00000700202.1:c.2141del	ENSP00000514856.1:p.Thr714AsnfsTer7
ENST00000700203.1:n.1852del
ENST00000380152.8:c.9725del MANE Select	ENSP00000369497.3:p.Thr3242AsnfsTer7
ENST00000544455.6:c.9725del	ENSP00000439902.1:p.Thr3242AsnfsTer7
ENST00000614259.2:c.9733del	ENSP00000506251.1:n.9733del
ENST00000680887.1:c.9725del	ENSP00000505508.1:p.Thr3242AsnfsTer7
ENST00000380152.7:c.9725del	ENSP00000369497.3:p.Thr3242AsnfsTer7
ENST00000470094.1:c.808del
ENST00000533776.1:n.313del
ENST00000544455.5:c.9725del	ENSP00000439902.1:p.Thr3242AsnfsTer7
NM_000059.3:c.9725del , LRG_293t1:c.9725del	NP_000050.2:p.Thr3242AsnfsTer7
XM_011535203.1:c.9725del	XP_011533505.1:p.Thr3242AsnfsTer7
XM_011535204.1:c.9629del	XP_011533506.1:p.Thr3210AsnfsTer7
NM_000059.4:c.9725del MANE Select	NP_000050.3:p.Thr3242AsnfsTer7