Canonical Allele Identifier: CA026017

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380066A>C , CM000675.2:g.32380066A>C	GRCh38
NC_000013.10:g.32954203A>C , CM000675.1:g.32954203A>C	GRCh37
NC_000013.9:g.31852203A>C	NCBI36
NG_012772.3:g.69587A>C , LRG_293:g.69587A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9177A>C MANE Select	NP_000050.3:p.Lys3059Asn
ENST00000380152.8:c.9177A>C MANE Select	ENSP00000369497.3:p.Lys3059Asn
NM_000059.3:c.9177A>C , LRG_293t1:c.9177A>C	NP_000050.2:p.Lys3059Asn
ENST00000380152.7:c.9177A>C	ENSP00000369497.3:p.Lys3059Asn
ENST00000470094.1:c.134A>C
ENST00000470094.2:c.9177A>C	ENSP00000434898.2:p.Lys3059Asn
ENST00000528762.2:c.*544A>C	ENSP00000433168.2:n.*544A>C
ENST00000530893.7:c.8808A>C	ENSP00000499438.2:p.Lys2936Asn
ENST00000544455.5:c.9177A>C	ENSP00000439902.1:p.Lys3059Asn
ENST00000544455.6:c.9177A>C	ENSP00000439902.1:p.Lys3059Asn
ENST00000614259.2:c.9185A>C	ENSP00000506251.1:n.9185A>C
ENST00000665585.1:c.2055A>C
ENST00000665585.2:c.*739A>C	ENSP00000499570.2:n.*739A>C
ENST00000666593.1:c.60A>C	ENSP00000499256.1:p.Lys20Asn
ENST00000666593.2:c.9177A>C	ENSP00000499256.2:p.Lys3059Asn
ENST00000680887.1:c.9177A>C	ENSP00000505508.1:p.Lys3059Asn
ENST00000700202.1:c.1593A>C	ENSP00000514856.1:p.Lys531Asn
ENST00000700202.2:c.9126A>C	ENSP00000514856.2:p.Lys3042Asn
ENST00000700203.1:n.1304A>C
XM_011535203.1:c.9177A>C	XP_011533505.1:p.Lys3059Asn
XM_011535204.1:c.9081A>C	XP_011533506.1:p.Lys3027Asn