Canonical Allele Identifier: CA387767747

Gene: BRCA2

Linked Data

• dbSNP Id: rs28897761
• MyVariant Identifiers: chr13:g.32972674G>C (hg19) ; chr13:g.32398537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398537G>C , CM000675.2:g.32398537G>C	GRCh38
NC_000013.10:g.32972674G>C , CM000675.1:g.32972674G>C	GRCh37
NC_000013.9:g.31870674G>C	NCBI36
NG_012772.3:g.88058G>C , LRG_293:g.88058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*547G>C	ENSP00000434898.2:n.*547G>C
ENST00000528762.2:c.*1391G>C	ENSP00000433168.2:n.*1391G>C
ENST00000530893.7:c.9655G>C	ENSP00000499438.2:p.Glu3219Gln
ENST00000665585.2:c.*1586G>C	ENSP00000499570.2:n.*1586G>C
ENST00000700202.2:c.9973G>C	ENSP00000514856.2:p.Glu3325Gln
ENST00000700202.1:c.2440G>C	ENSP00000514856.1:p.Glu814Gln
ENST00000700203.1:n.2151G>C
ENST00000380152.8:c.10024G>C MANE Select	ENSP00000369497.3:p.Glu3342Gln
ENST00000544455.6:c.10024G>C	ENSP00000439902.1:p.Glu3342Gln
ENST00000614259.2:c.10032G>C	ENSP00000506251.1:n.10032G>C
ENST00000680887.1:c.10024G>C	ENSP00000505508.1:p.Glu3342Gln
ENST00000380152.7:c.10024G>C	ENSP00000369497.3:p.Glu3342Gln
ENST00000544455.5:c.10024G>C	ENSP00000439902.1:p.Glu3342Gln
NM_000059.3:c.10024G>C , LRG_293t1:c.10024G>C	NP_000050.2:p.Glu3342Gln
XM_011535203.1:c.10024G>C	XP_011533505.1:p.Glu3342Gln
XM_011535204.1:c.9928G>C	XP_011533506.1:p.Glu3310Gln
NM_000059.4:c.10024G>C MANE Select	NP_000050.3:p.Glu3342Gln