Canonical Allele Identifier: CA387761469

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394853G>C , CM000675.2:g.32394853G>C	GRCh38
NC_000013.10:g.32968990G>C , CM000675.1:g.32968990G>C	GRCh37
NC_000013.9:g.31866990G>C	NCBI36
NG_012772.3:g.84374G>C , LRG_293:g.84374G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9421G>C MANE Select	NP_000050.3:p.Gly3141Arg
ENST00000380152.8:c.9421G>C MANE Select	ENSP00000369497.3:p.Gly3141Arg
NM_000059.3:c.9421G>C , LRG_293t1:c.9421G>C	NP_000050.2:p.Gly3141Arg
ENST00000380152.7:c.9421G>C	ENSP00000369497.3:p.Gly3141Arg
ENST00000470094.1:c.378G>C
ENST00000470094.2:c.9421G>C	ENSP00000434898.2:p.Gly3141Arg
ENST00000528762.2:c.*788G>C	ENSP00000433168.2:n.*788G>C
ENST00000530893.7:c.9052G>C	ENSP00000499438.2:p.Gly3018Arg
ENST00000544455.5:c.9421G>C	ENSP00000439902.1:p.Gly3141Arg
ENST00000544455.6:c.9421G>C	ENSP00000439902.1:p.Gly3141Arg
ENST00000614259.2:c.9429G>C	ENSP00000506251.1:n.9429G>C
ENST00000665585.1:c.2299G>C
ENST00000665585.2:c.*983G>C	ENSP00000499570.2:n.*983G>C
ENST00000666593.1:c.443G>C	ENSP00000499256.1:n.443G>C
ENST00000666593.2:c.*266G>C	ENSP00000499256.2:n.*266G>C
ENST00000680887.1:c.9421G>C	ENSP00000505508.1:p.Gly3141Arg
ENST00000700202.1:c.1837G>C	ENSP00000514856.1:p.Gly613Arg
ENST00000700202.2:c.9370G>C	ENSP00000514856.2:p.Gly3124Arg
ENST00000700203.1:n.1548G>C
XM_011535203.1:c.9421G>C	XP_011533505.1:p.Gly3141Arg
XM_011535204.1:c.9325G>C	XP_011533506.1:p.Gly3109Arg