Canonical Allele Identifier: CA6941376

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394750G>C , CM000675.2:g.32394750G>C	GRCh38
NC_000013.10:g.32968887G>C , CM000675.1:g.32968887G>C	GRCh37
NC_000013.9:g.31866887G>C	NCBI36
NG_012772.3:g.84271G>C , LRG_293:g.84271G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9318G>C MANE Select	NP_000050.3:p.Trp3106Cys
ENST00000380152.8:c.9318G>C MANE Select	ENSP00000369497.3:p.Trp3106Cys
NM_000059.3:c.9318G>C , LRG_293t1:c.9318G>C	NP_000050.2:p.Trp3106Cys
ENST00000380152.7:c.9318G>C	ENSP00000369497.3:p.Trp3106Cys
ENST00000470094.1:c.275G>C
ENST00000470094.2:c.9318G>C	ENSP00000434898.2:p.Trp3106Cys
ENST00000528762.2:c.*685G>C	ENSP00000433168.2:n.*685G>C
ENST00000530893.7:c.8949G>C	ENSP00000499438.2:p.Trp2983Cys
ENST00000544455.5:c.9318G>C	ENSP00000439902.1:p.Trp3106Cys
ENST00000544455.6:c.9318G>C	ENSP00000439902.1:p.Trp3106Cys
ENST00000614259.2:c.9326G>C	ENSP00000506251.1:n.9326G>C
ENST00000665585.1:c.2196G>C
ENST00000665585.2:c.*880G>C	ENSP00000499570.2:n.*880G>C
ENST00000666593.1:c.340G>C	ENSP00000499256.1:n.340G>C
ENST00000666593.2:c.*163G>C	ENSP00000499256.2:n.*163G>C
ENST00000680887.1:c.9318G>C	ENSP00000505508.1:p.Trp3106Cys
ENST00000700202.1:c.1734G>C	ENSP00000514856.1:p.Trp578Cys
ENST00000700202.2:c.9267G>C	ENSP00000514856.2:p.Trp3089Cys
ENST00000700203.1:n.1445G>C
XM_011535203.1:c.9318G>C	XP_011533505.1:p.Trp3106Cys
XM_011535204.1:c.9222G>C	XP_011533506.1:p.Trp3074Cys