Canonical Allele Identifier: CA387757536

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379845A>G , CM000675.2:g.32379845A>G	GRCh38
NC_000013.10:g.32953982A>G , CM000675.1:g.32953982A>G	GRCh37
NC_000013.9:g.31851982A>G	NCBI36
NG_012772.3:g.69366A>G , LRG_293:g.69366A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9049A>G MANE Select	NP_000050.3:p.Lys3017Glu
ENST00000380152.8:c.9049A>G MANE Select	ENSP00000369497.3:p.Lys3017Glu
NM_000059.3:c.9049A>G , LRG_293t1:c.9049A>G	NP_000050.2:p.Lys3017Glu
ENST00000380152.7:c.9049A>G	ENSP00000369497.3:p.Lys3017Glu
ENST00000470094.1:c.6A>G
ENST00000470094.2:c.9049A>G	ENSP00000434898.2:p.Lys3017Glu
ENST00000528762.2:c.*416A>G	ENSP00000433168.2:n.*416A>G
ENST00000530893.7:c.8680A>G	ENSP00000499438.2:p.Lys2894Glu
ENST00000544455.5:c.9049A>G	ENSP00000439902.1:p.Lys3017Glu
ENST00000544455.6:c.9049A>G	ENSP00000439902.1:p.Lys3017Glu
ENST00000614259.2:c.9057A>G	ENSP00000506251.1:n.9057A>G
ENST00000665585.1:c.1927A>G
ENST00000665585.2:c.*611A>G	ENSP00000499570.2:n.*611A>G
ENST00000666593.2:c.9049A>G	ENSP00000499256.2:p.Lys3017Glu
ENST00000680887.1:c.9049A>G	ENSP00000505508.1:p.Lys3017Glu
ENST00000700202.1:c.1465A>G	ENSP00000514856.1:p.Lys489Glu
ENST00000700202.2:c.8998A>G	ENSP00000514856.2:p.Lys3000Glu
ENST00000700203.1:n.1176A>G
XM_011535203.1:c.9049A>G	XP_011533505.1:p.Lys3017Glu
XM_011535204.1:c.8953A>G	XP_011533506.1:p.Lys2985Glu