Canonical Allele Identifier: CA247507876

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396858T>A , CM000675.2:g.32396858T>A	GRCh38
NC_000013.10:g.32970995T>A , CM000675.1:g.32970995T>A	GRCh37
NC_000013.9:g.31868995T>A	NCBI36
NG_012772.3:g.86379T>A , LRG_293:g.86379T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9502-40T>A MANE Select	NP_000050.3:n.9502-40T>A
ENST00000380152.8:c.9502-40T>A MANE Select	ENSP00000369497.3:n.9502-40T>A
NM_000059.3:c.9502-40T>A , LRG_293t1:c.9502-40T>A	NP_000050.2:n.9502-40T>A
ENST00000380152.7:c.9502-40T>A	ENSP00000369497.3:n.9502-40T>A
ENST00000470094.1:c.585-40T>A
ENST00000470094.2:c.*25-40T>A	ENSP00000434898.2:n.*25-40T>A
ENST00000528762.2:c.*869-40T>A	ENSP00000433168.2:n.*869-40T>A
ENST00000530893.7:c.9133-40T>A	ENSP00000499438.2:n.9133-40T>A
ENST00000533776.1:n.50T>A
ENST00000544455.5:c.9502-40T>A	ENSP00000439902.1:n.9502-40T>A
ENST00000544455.6:c.9502-40T>A	ENSP00000439902.1:n.9502-40T>A
ENST00000614259.2:c.9510-40T>A	ENSP00000506251.1:n.9510-40T>A
ENST00000665585.1:c.2380-40T>A
ENST00000665585.2:c.*1064-40T>A	ENSP00000499570.2:n.*1064-40T>A
ENST00000680887.1:c.9502-40T>A	ENSP00000505508.1:n.9502-40T>A
ENST00000700202.1:c.1918-40T>A	ENSP00000514856.1:n.1918-40T>A
ENST00000700202.2:c.9451-40T>A	ENSP00000514856.2:n.9451-40T>A
ENST00000700203.1:n.1629-40T>A
XM_011535203.1:c.9502-40T>A	XP_011533505.1:n.9502-40T>A
XM_011535204.1:c.9406-40T>A	XP_011533506.1:n.9406-40T>A