Canonical Allele Identifier: CA387761387

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394838C>G , CM000675.2:g.32394838C>G	GRCh38
NC_000013.10:g.32968975C>G , CM000675.1:g.32968975C>G	GRCh37
NC_000013.9:g.31866975C>G	NCBI36
NG_012772.3:g.84359C>G , LRG_293:g.84359C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9406C>G MANE Select	NP_000050.3:p.Leu3136Val
ENST00000380152.8:c.9406C>G MANE Select	ENSP00000369497.3:p.Leu3136Val
NM_000059.3:c.9406C>G , LRG_293t1:c.9406C>G	NP_000050.2:p.Leu3136Val
ENST00000380152.7:c.9406C>G	ENSP00000369497.3:p.Leu3136Val
ENST00000470094.1:c.363C>G
ENST00000470094.2:c.9406C>G	ENSP00000434898.2:p.Leu3136Val
ENST00000528762.2:c.*773C>G	ENSP00000433168.2:n.*773C>G
ENST00000530893.7:c.9037C>G	ENSP00000499438.2:p.Leu3013Val
ENST00000544455.5:c.9406C>G	ENSP00000439902.1:p.Leu3136Val
ENST00000544455.6:c.9406C>G	ENSP00000439902.1:p.Leu3136Val
ENST00000614259.2:c.9414C>G	ENSP00000506251.1:n.9414C>G
ENST00000665585.1:c.2284C>G
ENST00000665585.2:c.*968C>G	ENSP00000499570.2:n.*968C>G
ENST00000666593.1:c.428C>G	ENSP00000499256.1:n.428C>G
ENST00000666593.2:c.*251C>G	ENSP00000499256.2:n.*251C>G
ENST00000680887.1:c.9406C>G	ENSP00000505508.1:p.Leu3136Val
ENST00000700202.1:c.1822C>G	ENSP00000514856.1:p.Leu608Val
ENST00000700202.2:c.9355C>G	ENSP00000514856.2:p.Leu3119Val
ENST00000700203.1:n.1533C>G
XM_011535203.1:c.9406C>G	XP_011533505.1:p.Leu3136Val
XM_011535204.1:c.9310C>G	XP_011533506.1:p.Leu3104Val