Canonical Allele Identifier: CA026014

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380060C>G , CM000675.2:g.32380060C>G	GRCh38
NC_000013.10:g.32954197C>G , CM000675.1:g.32954197C>G	GRCh37
NC_000013.9:g.31852197C>G	NCBI36
NG_012772.3:g.69581C>G , LRG_293:g.69581C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9171C>G MANE Select	NP_000050.3:p.Phe3057Leu
ENST00000380152.8:c.9171C>G MANE Select	ENSP00000369497.3:p.Phe3057Leu
NM_000059.3:c.9171C>G , LRG_293t1:c.9171C>G	NP_000050.2:p.Phe3057Leu
ENST00000380152.7:c.9171C>G	ENSP00000369497.3:p.Phe3057Leu
ENST00000470094.1:c.128C>G
ENST00000470094.2:c.9171C>G	ENSP00000434898.2:p.Phe3057Leu
ENST00000528762.2:c.*538C>G	ENSP00000433168.2:n.*538C>G
ENST00000530893.7:c.8802C>G	ENSP00000499438.2:p.Phe2934Leu
ENST00000544455.5:c.9171C>G	ENSP00000439902.1:p.Phe3057Leu
ENST00000544455.6:c.9171C>G	ENSP00000439902.1:p.Phe3057Leu
ENST00000614259.2:c.9179C>G	ENSP00000506251.1:n.9179C>G
ENST00000665585.1:c.2049C>G
ENST00000665585.2:c.*733C>G	ENSP00000499570.2:n.*733C>G
ENST00000666593.1:c.54C>G	ENSP00000499256.1:p.Phe18Leu
ENST00000666593.2:c.9171C>G	ENSP00000499256.2:p.Phe3057Leu
ENST00000680887.1:c.9171C>G	ENSP00000505508.1:p.Phe3057Leu
ENST00000700202.1:c.1587C>G	ENSP00000514856.1:p.Phe529Leu
ENST00000700202.2:c.9120C>G	ENSP00000514856.2:p.Phe3040Leu
ENST00000700203.1:n.1298C>G
XM_011535203.1:c.9171C>G	XP_011533505.1:p.Phe3057Leu
XM_011535204.1:c.9075C>G	XP_011533506.1:p.Phe3025Leu