Canonical Allele Identifier: CA387761080

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394781C>T , CM000675.2:g.32394781C>T	GRCh38
NC_000013.10:g.32968918C>T , CM000675.1:g.32968918C>T	GRCh37
NC_000013.9:g.31866918C>T	NCBI36
NG_012772.3:g.84302C>T , LRG_293:g.84302C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9349C>T MANE Select	NP_000050.3:p.His3117Tyr
ENST00000380152.8:c.9349C>T MANE Select	ENSP00000369497.3:p.His3117Tyr
NM_000059.3:c.9349C>T , LRG_293t1:c.9349C>T	NP_000050.2:p.His3117Tyr
ENST00000380152.7:c.9349C>T	ENSP00000369497.3:p.His3117Tyr
ENST00000470094.1:c.306C>T
ENST00000470094.2:c.9349C>T	ENSP00000434898.2:p.His3117Tyr
ENST00000528762.2:c.*716C>T	ENSP00000433168.2:n.*716C>T
ENST00000530893.7:c.8980C>T	ENSP00000499438.2:p.His2994Tyr
ENST00000544455.5:c.9349C>T	ENSP00000439902.1:p.His3117Tyr
ENST00000544455.6:c.9349C>T	ENSP00000439902.1:p.His3117Tyr
ENST00000614259.2:c.9357C>T	ENSP00000506251.1:n.9357C>T
ENST00000665585.1:c.2227C>T
ENST00000665585.2:c.*911C>T	ENSP00000499570.2:n.*911C>T
ENST00000666593.1:c.371C>T	ENSP00000499256.1:n.371C>T
ENST00000666593.2:c.*194C>T	ENSP00000499256.2:n.*194C>T
ENST00000680887.1:c.9349C>T	ENSP00000505508.1:p.His3117Tyr
ENST00000700202.1:c.1765C>T	ENSP00000514856.1:p.His589Tyr
ENST00000700202.2:c.9298C>T	ENSP00000514856.2:p.His3100Tyr
ENST00000700203.1:n.1476C>T
XM_011535203.1:c.9349C>T	XP_011533505.1:p.His3117Tyr
XM_011535204.1:c.9253C>T	XP_011533506.1:p.His3085Tyr