Canonical Allele Identifier: CA387762854

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396904G>A , CM000675.2:g.32396904G>A	GRCh38
NC_000013.10:g.32971041G>A , CM000675.1:g.32971041G>A	GRCh37
NC_000013.9:g.31869041G>A	NCBI36
NG_012772.3:g.86425G>A , LRG_293:g.86425G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9508G>A MANE Select	NP_000050.3:p.Asp3170Asn
ENST00000380152.8:c.9508G>A MANE Select	ENSP00000369497.3:p.Asp3170Asn
NM_000059.3:c.9508G>A , LRG_293t1:c.9508G>A	NP_000050.2:p.Asp3170Asn
ENST00000380152.7:c.9508G>A	ENSP00000369497.3:p.Asp3170Asn
ENST00000470094.1:c.591G>A
ENST00000470094.2:c.*31G>A	ENSP00000434898.2:n.*31G>A
ENST00000528762.2:c.*875G>A	ENSP00000433168.2:n.*875G>A
ENST00000530893.7:c.9139G>A	ENSP00000499438.2:p.Asp3047Asn
ENST00000533776.1:n.96G>A
ENST00000544455.5:c.9508G>A	ENSP00000439902.1:p.Asp3170Asn
ENST00000544455.6:c.9508G>A	ENSP00000439902.1:p.Asp3170Asn
ENST00000614259.2:c.9516G>A	ENSP00000506251.1:n.9516G>A
ENST00000665585.1:c.2386G>A
ENST00000665585.2:c.*1070G>A	ENSP00000499570.2:n.*1070G>A
ENST00000680887.1:c.9508G>A	ENSP00000505508.1:p.Asp3170Asn
ENST00000700202.1:c.1924G>A	ENSP00000514856.1:p.Asp642Asn
ENST00000700202.2:c.9457G>A	ENSP00000514856.2:p.Asp3153Asn
ENST00000700203.1:n.1635G>A
XM_011535203.1:c.9508G>A	XP_011533505.1:p.Asp3170Asn
XM_011535204.1:c.9412G>A	XP_011533506.1:p.Asp3138Asn