Canonical Allele Identifier: CA387767687

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398519A>G , CM000675.2:g.32398519A>G	GRCh38
NC_000013.10:g.32972656A>G , CM000675.1:g.32972656A>G	GRCh37
NC_000013.9:g.31870656A>G	NCBI36
NG_012772.3:g.88040A>G , LRG_293:g.88040A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10006A>G MANE Select	NP_000050.3:p.Ser3336Gly
ENST00000380152.8:c.10006A>G MANE Select	ENSP00000369497.3:p.Ser3336Gly
NM_000059.3:c.10006A>G , LRG_293t1:c.10006A>G	NP_000050.2:p.Ser3336Gly
ENST00000380152.7:c.10006A>G	ENSP00000369497.3:p.Ser3336Gly
ENST00000470094.2:c.*529A>G	ENSP00000434898.2:n.*529A>G
ENST00000528762.2:c.*1373A>G	ENSP00000433168.2:n.*1373A>G
ENST00000530893.7:c.9637A>G	ENSP00000499438.2:p.Ser3213Gly
ENST00000544455.5:c.10006A>G	ENSP00000439902.1:p.Ser3336Gly
ENST00000544455.6:c.10006A>G	ENSP00000439902.1:p.Ser3336Gly
ENST00000614259.2:c.10014A>G	ENSP00000506251.1:n.10014A>G
ENST00000665585.2:c.*1568A>G	ENSP00000499570.2:n.*1568A>G
ENST00000680887.1:c.10006A>G	ENSP00000505508.1:p.Ser3336Gly
ENST00000700202.1:c.2422A>G	ENSP00000514856.1:p.Ser808Gly
ENST00000700202.2:c.9955A>G	ENSP00000514856.2:p.Ser3319Gly
ENST00000700203.1:n.2133A>G
XM_011535203.1:c.10006A>G	XP_011533505.1:p.Ser3336Gly
XM_011535204.1:c.9910A>G	XP_011533506.1:p.Ser3304Gly