Canonical Allele Identifier: CA6941375

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394736G>A , CM000675.2:g.32394736G>A	GRCh38
NC_000013.10:g.32968873G>A , CM000675.1:g.32968873G>A	GRCh37
NC_000013.9:g.31866873G>A	NCBI36
NG_012772.3:g.84257G>A , LRG_293:g.84257G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9304G>A MANE Select	NP_000050.3:p.Ala3102Thr
ENST00000380152.8:c.9304G>A MANE Select	ENSP00000369497.3:p.Ala3102Thr
NM_000059.3:c.9304G>A , LRG_293t1:c.9304G>A	NP_000050.2:p.Ala3102Thr
ENST00000380152.7:c.9304G>A	ENSP00000369497.3:p.Ala3102Thr
ENST00000470094.1:c.261G>A
ENST00000470094.2:c.9304G>A	ENSP00000434898.2:p.Ala3102Thr
ENST00000528762.2:c.*671G>A	ENSP00000433168.2:n.*671G>A
ENST00000530893.7:c.8935G>A	ENSP00000499438.2:p.Ala2979Thr
ENST00000544455.5:c.9304G>A	ENSP00000439902.1:p.Ala3102Thr
ENST00000544455.6:c.9304G>A	ENSP00000439902.1:p.Ala3102Thr
ENST00000614259.2:c.9312G>A	ENSP00000506251.1:n.9312G>A
ENST00000665585.1:c.2182G>A
ENST00000665585.2:c.*866G>A	ENSP00000499570.2:n.*866G>A
ENST00000666593.1:c.326G>A	ENSP00000499256.1:n.326G>A
ENST00000666593.2:c.*149G>A	ENSP00000499256.2:n.*149G>A
ENST00000680887.1:c.9304G>A	ENSP00000505508.1:p.Ala3102Thr
ENST00000700202.1:c.1720G>A	ENSP00000514856.1:p.Ala574Thr
ENST00000700202.2:c.9253G>A	ENSP00000514856.2:p.Ala3085Thr
ENST00000700203.1:n.1431G>A
XM_011535203.1:c.9304G>A	XP_011533505.1:p.Ala3102Thr
XM_011535204.1:c.9208G>A	XP_011533506.1:p.Ala3070Thr