Canonical Allele Identifier: CA483440047

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1768123
• ClinVar RCV Id: RCV002387136
• dbSNP Id: rs2137663659
• MyVariant Identifiers: chr13:g.32972418G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398281G>A , CM000675.2:g.32398281G>A	GRCh38
NC_000013.10:g.32972418G>A , CM000675.1:g.32972418G>A	GRCh37
NC_000013.9:g.31870418G>A	NCBI36
NG_012772.3:g.87802G>A , LRG_293:g.87802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*291G>A	ENSP00000434898.2:n.*291G>A
ENST00000528762.2:c.*1135G>A	ENSP00000433168.2:n.*1135G>A
ENST00000530893.7:c.9399G>A	ENSP00000499438.2:p.Glu3133=
ENST00000665585.2:c.*1330G>A	ENSP00000499570.2:n.*1330G>A
ENST00000700202.2:c.9717G>A	ENSP00000514856.2:p.Glu3239=
ENST00000700202.1:c.2184G>A	ENSP00000514856.1:p.Glu728=
ENST00000700203.1:n.1895G>A
ENST00000380152.8:c.9768G>A MANE Select	ENSP00000369497.3:p.Glu3256=
ENST00000544455.6:c.9768G>A	ENSP00000439902.1:p.Glu3256=
ENST00000614259.2:c.9776G>A	ENSP00000506251.1:n.9776G>A
ENST00000680887.1:c.9768G>A	ENSP00000505508.1:p.Glu3256=
ENST00000380152.7:c.9768G>A	ENSP00000369497.3:p.Glu3256=
ENST00000533776.1:n.356G>A
ENST00000544455.5:c.9768G>A	ENSP00000439902.1:p.Glu3256=
NM_000059.3:c.9768G>A , LRG_293t1:c.9768G>A	NP_000050.2:p.Glu3256=
XM_011535203.1:c.9768G>A	XP_011533505.1:p.Glu3256=
XM_011535204.1:c.9672G>A	XP_011533506.1:p.Glu3224=
NM_000059.4:c.9768G>A MANE Select	NP_000050.3:p.Glu3256=