Canonical Allele Identifier: CA2499222353

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379419_32379420insTA , CM000675.2:g.32379419_32379420insTA	GRCh38
NC_000013.10:g.32953556_32953557insTA , CM000675.1:g.32953556_32953557insTA	GRCh37
NC_000013.9:g.31851556_31851557insTA	NCBI36
NG_012772.3:g.68940_68941insTA , LRG_293:g.68940_68941insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8857_8858insTA	ENSP00000434898.2:p.Glu2953ValfsTer24
ENST00000528762.2:c.*224_*225insTA	ENSP00000433168.2:n.*224_*225insTA
ENST00000530893.7:c.8488_8489insTA	ENSP00000499438.2:p.Glu2830ValfsTer24
ENST00000665585.2:c.*419_*420insTA	ENSP00000499570.2:n.*419_*420insTA
ENST00000666593.2:c.8857_8858insTA	ENSP00000499256.2:p.Glu2953ValfsTer24
ENST00000700202.2:c.8857_8858insTA	ENSP00000514856.2:p.Glu2953ValfsTer24
ENST00000700202.1:c.1324_1325insTA	ENSP00000514856.1:p.Glu442ValfsTer24
ENST00000700203.1:n.984_985insTA
ENST00000380152.8:c.8857_8858insTA MANE Select	ENSP00000369497.3:p.Glu2953ValfsTer24
ENST00000544455.6:c.8857_8858insTA	ENSP00000439902.1:p.Glu2953ValfsTer24
ENST00000614259.2:c.8865_8866insTA	ENSP00000506251.1:n.8865_8866insTA
ENST00000665585.1:c.1735_1736insTA
ENST00000680887.1:c.8857_8858insTA	ENSP00000505508.1:p.Glu2953ValfsTer24
ENST00000380152.7:c.8857_8858insTA	ENSP00000369497.3:p.Glu2953ValfsTer24
ENST00000528762.1:c.419_420insTA	ENSP00000433168.1:n.419_420insTA
ENST00000544455.5:c.8857_8858insTA	ENSP00000439902.1:p.Glu2953ValfsTer24
NM_000059.3:c.8857_8858insTA , LRG_293t1:c.8857_8858insTA	NP_000050.2:p.Glu2953ValfsTer24
XM_011535203.1:c.8857_8858insTA	XP_011533505.1:p.Glu2953ValfsTer24
XM_011535204.1:c.8761_8762insTA	XP_011533506.1:p.Glu2921ValfsTer24
XM_011535205.1:c.8755-331_8755-330insTA	XP_011533507.1:n.8755-331_8755-330insTA
NM_000059.4:c.8857_8858insTA MANE Select	NP_000050.3:p.Glu2953ValfsTer24