Canonical Allele Identifier: CA010325

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398634C>T , CM000675.2:g.32398634C>T	GRCh38
NC_000013.10:g.32972771C>T , CM000675.1:g.32972771C>T	GRCh37
NC_000013.9:g.31870771C>T	NCBI36
NG_012772.3:g.88155C>T , LRG_293:g.88155C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10121C>T MANE Select	NP_000050.3:p.Thr3374Ile
ENST00000380152.8:c.10121C>T MANE Select	ENSP00000369497.3:p.Thr3374Ile
NM_000059.3:c.10121C>T , LRG_293t1:c.10121C>T	NP_000050.2:p.Thr3374Ile
ENST00000380152.7:c.10121C>T	ENSP00000369497.3:p.Thr3374Ile
ENST00000470094.2:c.*644C>T	ENSP00000434898.2:n.*644C>T
ENST00000528762.2:c.*1488C>T	ENSP00000433168.2:n.*1488C>T
ENST00000530893.7:c.9752C>T	ENSP00000499438.2:p.Thr3251Ile
ENST00000544455.5:c.10121C>T	ENSP00000439902.1:p.Thr3374Ile
ENST00000544455.6:c.10121C>T	ENSP00000439902.1:p.Thr3374Ile
ENST00000614259.2:c.10129C>T	ENSP00000506251.1:n.10129C>T
ENST00000665585.2:c.*1683C>T	ENSP00000499570.2:n.*1683C>T
ENST00000680887.1:c.10121C>T	ENSP00000505508.1:p.Thr3374Ile
ENST00000700202.1:c.2537C>T	ENSP00000514856.1:p.Thr846Ile
ENST00000700202.2:c.10070C>T	ENSP00000514856.2:p.Thr3357Ile
ENST00000700203.1:n.2248C>T
XM_011535203.1:c.10121C>T	XP_011533505.1:p.Thr3374Ile
XM_011535204.1:c.10025C>T	XP_011533506.1:p.Thr3342Ile