Canonical Allele Identifier: CA387757527

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379840A>T , CM000675.2:g.32379840A>T	GRCh38
NC_000013.10:g.32953977A>T , CM000675.1:g.32953977A>T	GRCh37
NC_000013.9:g.31851977A>T	NCBI36
NG_012772.3:g.69361A>T , LRG_293:g.69361A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9044A>T MANE Select	NP_000050.3:p.Lys3015Ile
ENST00000380152.8:c.9044A>T MANE Select	ENSP00000369497.3:p.Lys3015Ile
NM_000059.3:c.9044A>T , LRG_293t1:c.9044A>T	NP_000050.2:p.Lys3015Ile
ENST00000380152.7:c.9044A>T	ENSP00000369497.3:p.Lys3015Ile
ENST00000470094.1:c.1A>T
ENST00000470094.2:c.9044A>T	ENSP00000434898.2:p.Lys3015Ile
ENST00000528762.2:c.*411A>T	ENSP00000433168.2:n.*411A>T
ENST00000530893.7:c.8675A>T	ENSP00000499438.2:p.Lys2892Ile
ENST00000544455.5:c.9044A>T	ENSP00000439902.1:p.Lys3015Ile
ENST00000544455.6:c.9044A>T	ENSP00000439902.1:p.Lys3015Ile
ENST00000614259.2:c.9052A>T	ENSP00000506251.1:n.9052A>T
ENST00000665585.1:c.1922A>T
ENST00000665585.2:c.*606A>T	ENSP00000499570.2:n.*606A>T
ENST00000666593.2:c.9044A>T	ENSP00000499256.2:p.Lys3015Ile
ENST00000680887.1:c.9044A>T	ENSP00000505508.1:p.Lys3015Ile
ENST00000700202.1:c.1460A>T	ENSP00000514856.1:p.Lys487Ile
ENST00000700202.2:c.8993A>T	ENSP00000514856.2:p.Lys2998Ile
ENST00000700203.1:n.1171A>T
XM_011535203.1:c.9044A>T	XP_011533505.1:p.Lys3015Ile
XM_011535204.1:c.8948A>T	XP_011533506.1:p.Lys2983Ile
XM_011535205.1:c.*82A>T	XP_011533507.1:n.*82A>T