Canonical Allele Identifier: CA2082835886

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379401_32379402delinsGA , CM000675.2:g.32379401_32379402delinsGA	GRCh38
NC_000013.10:g.32953538_32953539delinsGA , CM000675.1:g.32953538_32953539delinsGA	GRCh37
NC_000013.9:g.31851538_31851539delinsGA	NCBI36
NG_012772.3:g.68922_68923delinsGA , LRG_293:g.68922_68923delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8839_8840delinsGA	ENSP00000434898.2:p.Glu2947=
ENST00000528762.2:c.*206_*207delinsGA	ENSP00000433168.2:n.*206_*207delinsGA
ENST00000530893.7:c.8470_8471delinsGA	ENSP00000499438.2:p.Glu2824=
ENST00000665585.2:c.*401_*402delinsGA	ENSP00000499570.2:n.*401_*402delinsGA
ENST00000666593.2:c.8839_8840delinsGA	ENSP00000499256.2:p.Glu2947=
ENST00000700202.2:c.8839_8840delinsGA	ENSP00000514856.2:p.Glu2947=
ENST00000700202.1:c.1306_1307delinsGA	ENSP00000514856.1:p.Glu436=
ENST00000700203.1:n.966_967delinsGA
ENST00000380152.8:c.8839_8840delinsGA MANE Select	ENSP00000369497.3:p.Glu2947=
ENST00000544455.6:c.8839_8840delinsGA	ENSP00000439902.1:p.Glu2947=
ENST00000614259.2:c.8847_8848delinsGA	ENSP00000506251.1:n.8847_8848delinsGA
ENST00000665585.1:c.1717_1718delinsGA
ENST00000680887.1:c.8839_8840delinsGA	ENSP00000505508.1:p.Glu2947=
ENST00000380152.7:c.8839_8840delinsGA	ENSP00000369497.3:p.Glu2947=
ENST00000528762.1:c.401_402delinsGA	ENSP00000433168.1:n.401_402delinsGA
ENST00000544455.5:c.8839_8840delinsGA	ENSP00000439902.1:p.Glu2947=
NM_000059.3:c.8839_8840delinsGA , LRG_293t1:c.8839_8840delinsGA	NP_000050.2:p.Glu2947=
XM_011535203.1:c.8839_8840delinsGA	XP_011533505.1:p.Glu2947=
XM_011535204.1:c.8743_8744delinsGA	XP_011533506.1:p.Glu2915=
XM_011535205.1:c.8755-349_8755-348delinsGA	XP_011533507.1:n.8755-349_8755-348delinsGA
NM_000059.4:c.8839_8840delinsGA MANE Select	NP_000050.3:p.Glu2947=