Canonical Allele Identifier: CA026107

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394770T>C , CM000675.2:g.32394770T>C	GRCh38
NC_000013.10:g.32968907T>C , CM000675.1:g.32968907T>C	GRCh37
NC_000013.9:g.31866907T>C	NCBI36
NG_012772.3:g.84291T>C , LRG_293:g.84291T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9338T>C MANE Select	NP_000050.3:p.Ile3113Thr
ENST00000380152.8:c.9338T>C MANE Select	ENSP00000369497.3:p.Ile3113Thr
NM_000059.3:c.9338T>C , LRG_293t1:c.9338T>C	NP_000050.2:p.Ile3113Thr
ENST00000380152.7:c.9338T>C	ENSP00000369497.3:p.Ile3113Thr
ENST00000470094.1:c.295T>C
ENST00000470094.2:c.9338T>C	ENSP00000434898.2:p.Ile3113Thr
ENST00000528762.2:c.*705T>C	ENSP00000433168.2:n.*705T>C
ENST00000530893.7:c.8969T>C	ENSP00000499438.2:p.Ile2990Thr
ENST00000544455.5:c.9338T>C	ENSP00000439902.1:p.Ile3113Thr
ENST00000544455.6:c.9338T>C	ENSP00000439902.1:p.Ile3113Thr
ENST00000614259.2:c.9346T>C	ENSP00000506251.1:n.9346T>C
ENST00000665585.1:c.2216T>C
ENST00000665585.2:c.*900T>C	ENSP00000499570.2:n.*900T>C
ENST00000666593.1:c.360T>C	ENSP00000499256.1:n.360T>C
ENST00000666593.2:c.*183T>C	ENSP00000499256.2:n.*183T>C
ENST00000680887.1:c.9338T>C	ENSP00000505508.1:p.Ile3113Thr
ENST00000700202.1:c.1754T>C	ENSP00000514856.1:p.Ile585Thr
ENST00000700202.2:c.9287T>C	ENSP00000514856.2:p.Ile3096Thr
ENST00000700203.1:n.1465T>C
XM_011535203.1:c.9338T>C	XP_011533505.1:p.Ile3113Thr
XM_011535204.1:c.9242T>C	XP_011533506.1:p.Ile3081Thr