Canonical Allele Identifier: CA6941353

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380087G>C , CM000675.2:g.32380087G>C	GRCh38
NC_000013.10:g.32954224G>C , CM000675.1:g.32954224G>C	GRCh37
NC_000013.9:g.31852224G>C	NCBI36
NG_012772.3:g.69608G>C , LRG_293:g.69608G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9198G>C MANE Select	NP_000050.3:p.Gln3066His
ENST00000380152.8:c.9198G>C MANE Select	ENSP00000369497.3:p.Gln3066His
NM_000059.3:c.9198G>C , LRG_293t1:c.9198G>C	NP_000050.2:p.Gln3066His
ENST00000380152.7:c.9198G>C	ENSP00000369497.3:p.Gln3066His
ENST00000470094.1:c.155G>C
ENST00000470094.2:c.9198G>C	ENSP00000434898.2:p.Gln3066His
ENST00000528762.2:c.*565G>C	ENSP00000433168.2:n.*565G>C
ENST00000530893.7:c.8829G>C	ENSP00000499438.2:p.Gln2943His
ENST00000544455.5:c.9198G>C	ENSP00000439902.1:p.Gln3066His
ENST00000544455.6:c.9198G>C	ENSP00000439902.1:p.Gln3066His
ENST00000614259.2:c.9206G>C	ENSP00000506251.1:n.9206G>C
ENST00000665585.1:c.2076G>C
ENST00000665585.2:c.*760G>C	ENSP00000499570.2:n.*760G>C
ENST00000666593.1:c.81G>C	ENSP00000499256.1:p.Gln27His
ENST00000666593.2:c.9198G>C	ENSP00000499256.2:p.Gln3066His
ENST00000680887.1:c.9198G>C	ENSP00000505508.1:p.Gln3066His
ENST00000700202.1:c.1614G>C	ENSP00000514856.1:p.Gln538His
ENST00000700202.2:c.9147G>C	ENSP00000514856.2:p.Gln3049His
ENST00000700203.1:n.1325G>C
XM_011535203.1:c.9198G>C	XP_011533505.1:p.Gln3066His
XM_011535204.1:c.9102G>C	XP_011533506.1:p.Gln3034His