Canonical Allele Identifier: CA025825

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379344G>T , CM000675.2:g.32379344G>T	GRCh38
NC_000013.10:g.32953481G>T , CM000675.1:g.32953481G>T	GRCh37
NC_000013.9:g.31851481G>T	NCBI36
NG_012772.3:g.68865G>T , LRG_293:g.68865G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.8782G>T MANE Select	NP_000050.3:p.Ala2928Ser
ENST00000380152.8:c.8782G>T MANE Select	ENSP00000369497.3:p.Ala2928Ser
NM_000059.3:c.8782G>T , LRG_293t1:c.8782G>T	NP_000050.2:p.Ala2928Ser
ENST00000380152.7:c.8782G>T	ENSP00000369497.3:p.Ala2928Ser
ENST00000470094.2:c.8782G>T	ENSP00000434898.2:p.Ala2928Ser
ENST00000528762.1:c.344G>T	ENSP00000433168.1:n.344G>T
ENST00000528762.2:c.*149G>T	ENSP00000433168.2:n.*149G>T
ENST00000530893.7:c.8413G>T	ENSP00000499438.2:p.Ala2805Ser
ENST00000544455.5:c.8782G>T	ENSP00000439902.1:p.Ala2928Ser
ENST00000544455.6:c.8782G>T	ENSP00000439902.1:p.Ala2928Ser
ENST00000614259.2:c.8790G>T	ENSP00000506251.1:n.8790G>T
ENST00000665585.1:c.1660G>T
ENST00000665585.2:c.*344G>T	ENSP00000499570.2:n.*344G>T
ENST00000666593.2:c.8782G>T	ENSP00000499256.2:p.Ala2928Ser
ENST00000680887.1:c.8782G>T	ENSP00000505508.1:p.Ala2928Ser
ENST00000700202.1:c.1249G>T	ENSP00000514856.1:p.Ala417Ser
ENST00000700202.2:c.8782G>T	ENSP00000514856.2:p.Ala2928Ser
ENST00000700203.1:n.909G>T
XM_011535203.1:c.8782G>T	XP_011533505.1:p.Ala2928Ser
XM_011535204.1:c.8686G>T	XP_011533506.1:p.Ala2896Ser
XM_011535205.1:c.8755-406G>T	XP_011533507.1:n.8755-406G>T