Canonical Allele Identifier: CA387761330

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394826A>C , CM000675.2:g.32394826A>C	GRCh38
NC_000013.10:g.32968963A>C , CM000675.1:g.32968963A>C	GRCh37
NC_000013.9:g.31866963A>C	NCBI36
NG_012772.3:g.84347A>C , LRG_293:g.84347A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9394A>C MANE Select	NP_000050.3:p.Lys3132Gln
ENST00000380152.8:c.9394A>C MANE Select	ENSP00000369497.3:p.Lys3132Gln
NM_000059.3:c.9394A>C , LRG_293t1:c.9394A>C	NP_000050.2:p.Lys3132Gln
ENST00000380152.7:c.9394A>C	ENSP00000369497.3:p.Lys3132Gln
ENST00000470094.1:c.351A>C
ENST00000470094.2:c.9394A>C	ENSP00000434898.2:p.Lys3132Gln
ENST00000528762.2:c.*761A>C	ENSP00000433168.2:n.*761A>C
ENST00000530893.7:c.9025A>C	ENSP00000499438.2:p.Lys3009Gln
ENST00000544455.5:c.9394A>C	ENSP00000439902.1:p.Lys3132Gln
ENST00000544455.6:c.9394A>C	ENSP00000439902.1:p.Lys3132Gln
ENST00000614259.2:c.9402A>C	ENSP00000506251.1:n.9402A>C
ENST00000665585.1:c.2272A>C
ENST00000665585.2:c.*956A>C	ENSP00000499570.2:n.*956A>C
ENST00000666593.1:c.416A>C	ENSP00000499256.1:n.416A>C
ENST00000666593.2:c.*239A>C	ENSP00000499256.2:n.*239A>C
ENST00000680887.1:c.9394A>C	ENSP00000505508.1:p.Lys3132Gln
ENST00000700202.1:c.1810A>C	ENSP00000514856.1:p.Lys604Gln
ENST00000700202.2:c.9343A>C	ENSP00000514856.2:p.Lys3115Gln
ENST00000700203.1:n.1521A>C
XM_011535203.1:c.9394A>C	XP_011533505.1:p.Lys3132Gln
XM_011535204.1:c.9298A>C	XP_011533506.1:p.Lys3100Gln