Canonical Allele Identifier: CA2082836722
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379505A= , CM000675.2:g.32379505A= GRCh38
NC_000013.10:g.32953642A= , CM000675.1:g.32953642A= GRCh37
NC_000013.9:g.31851642A= NCBI36
NG_012772.3:g.69026A= , LRG_293:g.69026A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8943A= ENSP00000434898.2:p.Glu2981=
ENST00000528762.2:c.*310A= ENSP00000433168.2:n.*310A=
ENST00000530893.7:c.8574A= ENSP00000499438.2:p.Glu2858=
ENST00000665585.2:c.*505A= ENSP00000499570.2:n.*505A=
ENST00000666593.2:c.8943A= ENSP00000499256.2:p.Glu2981=
ENST00000700202.2:c.8943A= ENSP00000514856.2:p.Glu2981=
ENST00000700202.1:c.1410A= ENSP00000514856.1:p.Glu470=
ENST00000700203.1:n.1070A=
ENST00000380152.8:c.8943A= MANE Select ENSP00000369497.3:p.Glu2981=
ENST00000544455.6:c.8943A= ENSP00000439902.1:p.Glu2981=
ENST00000614259.2:c.8951A= ENSP00000506251.1:n.8951A=
ENST00000665585.1:c.1821A=
ENST00000680887.1:c.8943A= ENSP00000505508.1:p.Glu2981=
ENST00000380152.7:c.8943A= ENSP00000369497.3:p.Glu2981=
ENST00000544455.5:c.8943A= ENSP00000439902.1:p.Glu2981=
NM_000059.3:c.8943A= , LRG_293t1:c.8943A= NP_000050.2:p.Glu2981=
XM_011535203.1:c.8943A= XP_011533505.1:p.Glu2981=
XM_011535204.1:c.8847A= XP_011533506.1:p.Glu2949=
XM_011535205.1:c.8755-245A= XP_011533507.1:n.8755-245A=
NM_000059.4:c.8943A= MANE Select NP_000050.3:p.Glu2981=