Canonical Allele Identifier: CA2082836696
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379504A= , CM000675.2:g.32379504A= GRCh38
NC_000013.10:g.32953641A= , CM000675.1:g.32953641A= GRCh37
NC_000013.9:g.31851641A= NCBI36
NG_012772.3:g.69025A= , LRG_293:g.69025A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8942A= ENSP00000434898.2:p.Glu2981=
ENST00000528762.2:c.*309A= ENSP00000433168.2:n.*309A=
ENST00000530893.7:c.8573A= ENSP00000499438.2:p.Glu2858=
ENST00000665585.2:c.*504A= ENSP00000499570.2:n.*504A=
ENST00000666593.2:c.8942A= ENSP00000499256.2:p.Glu2981=
ENST00000700202.2:c.8942A= ENSP00000514856.2:p.Glu2981=
ENST00000700202.1:c.1409A= ENSP00000514856.1:p.Glu470=
ENST00000700203.1:n.1069A=
ENST00000380152.8:c.8942A= MANE Select ENSP00000369497.3:p.Glu2981=
ENST00000544455.6:c.8942A= ENSP00000439902.1:p.Glu2981=
ENST00000614259.2:c.8950A= ENSP00000506251.1:n.8950A=
ENST00000665585.1:c.1820A=
ENST00000680887.1:c.8942A= ENSP00000505508.1:p.Glu2981=
ENST00000380152.7:c.8942A= ENSP00000369497.3:p.Glu2981=
ENST00000544455.5:c.8942A= ENSP00000439902.1:p.Glu2981=
NM_000059.3:c.8942A= , LRG_293t1:c.8942A= NP_000050.2:p.Glu2981=
XM_011535203.1:c.8942A= XP_011533505.1:p.Glu2981=
XM_011535204.1:c.8846A= XP_011533506.1:p.Glu2949=
XM_011535205.1:c.8755-246A= XP_011533507.1:n.8755-246A=
NM_000059.4:c.8942A= MANE Select NP_000050.3:p.Glu2981=