Canonical Allele Identifier: CA10577495

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380057C>G , CM000675.2:g.32380057C>G	GRCh38
NC_000013.10:g.32954194C>G , CM000675.1:g.32954194C>G	GRCh37
NC_000013.9:g.31852194C>G	NCBI36
NG_012772.3:g.69578C>G , LRG_293:g.69578C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9168C>G MANE Select	NP_000050.3:p.His3056Gln
ENST00000380152.8:c.9168C>G MANE Select	ENSP00000369497.3:p.His3056Gln
NM_000059.3:c.9168C>G , LRG_293t1:c.9168C>G	NP_000050.2:p.His3056Gln
ENST00000380152.7:c.9168C>G	ENSP00000369497.3:p.His3056Gln
ENST00000470094.1:c.125C>G
ENST00000470094.2:c.9168C>G	ENSP00000434898.2:p.His3056Gln
ENST00000528762.2:c.*535C>G	ENSP00000433168.2:n.*535C>G
ENST00000530893.7:c.8799C>G	ENSP00000499438.2:p.His2933Gln
ENST00000544455.5:c.9168C>G	ENSP00000439902.1:p.His3056Gln
ENST00000544455.6:c.9168C>G	ENSP00000439902.1:p.His3056Gln
ENST00000614259.2:c.9176C>G	ENSP00000506251.1:n.9176C>G
ENST00000665585.1:c.2046C>G
ENST00000665585.2:c.*730C>G	ENSP00000499570.2:n.*730C>G
ENST00000666593.1:c.51C>G	ENSP00000499256.1:p.His17Gln
ENST00000666593.2:c.9168C>G	ENSP00000499256.2:p.His3056Gln
ENST00000680887.1:c.9168C>G	ENSP00000505508.1:p.His3056Gln
ENST00000700202.1:c.1584C>G	ENSP00000514856.1:p.His528Gln
ENST00000700202.2:c.9117C>G	ENSP00000514856.2:p.His3039Gln
ENST00000700203.1:n.1295C>G
XM_011535203.1:c.9168C>G	XP_011533505.1:p.His3056Gln
XM_011535204.1:c.9072C>G	XP_011533506.1:p.His3024Gln