Canonical Allele Identifier: CA387763796

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32397035C>A , CM000675.2:g.32397035C>A	GRCh38
NC_000013.10:g.32971172C>A , CM000675.1:g.32971172C>A	GRCh37
NC_000013.9:g.31869172C>A	NCBI36
NG_012772.3:g.86556C>A , LRG_293:g.86556C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9639C>A MANE Select	NP_000050.3:p.Asn3213Lys
ENST00000380152.8:c.9639C>A MANE Select	ENSP00000369497.3:p.Asn3213Lys
NM_000059.3:c.9639C>A , LRG_293t1:c.9639C>A	NP_000050.2:p.Asn3213Lys
ENST00000380152.7:c.9639C>A	ENSP00000369497.3:p.Asn3213Lys
ENST00000470094.1:c.722C>A
ENST00000470094.2:c.*162C>A	ENSP00000434898.2:n.*162C>A
ENST00000528762.2:c.*1006C>A	ENSP00000433168.2:n.*1006C>A
ENST00000530893.7:c.9270C>A	ENSP00000499438.2:p.Asn3090Lys
ENST00000533776.1:n.227C>A
ENST00000544455.5:c.9639C>A	ENSP00000439902.1:p.Asn3213Lys
ENST00000544455.6:c.9639C>A	ENSP00000439902.1:p.Asn3213Lys
ENST00000614259.2:c.9647C>A	ENSP00000506251.1:n.9647C>A
ENST00000665585.1:c.2517C>A
ENST00000665585.2:c.*1201C>A	ENSP00000499570.2:n.*1201C>A
ENST00000680887.1:c.9639C>A	ENSP00000505508.1:p.Asn3213Lys
ENST00000700202.1:c.2055C>A	ENSP00000514856.1:p.Asn685Lys
ENST00000700202.2:c.9588C>A	ENSP00000514856.2:p.Asn3196Lys
ENST00000700203.1:n.1766C>A
XM_011535203.1:c.9639C>A	XP_011533505.1:p.Asn3213Lys
XM_011535204.1:c.9543C>A	XP_011533506.1:p.Asn3181Lys