Canonical Allele Identifier: CA2082836491
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379482A= , CM000675.2:g.32379482A= GRCh38
NC_000013.10:g.32953619A= , CM000675.1:g.32953619A= GRCh37
NC_000013.9:g.31851619A= NCBI36
NG_012772.3:g.69003A= , LRG_293:g.69003A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8920A= ENSP00000434898.2:p.Ile2974=
ENST00000528762.2:c.*287A= ENSP00000433168.2:n.*287A=
ENST00000530893.7:c.8551A= ENSP00000499438.2:p.Ile2851=
ENST00000665585.2:c.*482A= ENSP00000499570.2:n.*482A=
ENST00000666593.2:c.8920A= ENSP00000499256.2:p.Ile2974=
ENST00000700202.2:c.8920A= ENSP00000514856.2:p.Ile2974=
ENST00000700202.1:c.1387A= ENSP00000514856.1:p.Ile463=
ENST00000700203.1:n.1047A=
ENST00000380152.8:c.8920A= MANE Select ENSP00000369497.3:p.Ile2974=
ENST00000544455.6:c.8920A= ENSP00000439902.1:p.Ile2974=
ENST00000614259.2:c.8928A= ENSP00000506251.1:n.8928A=
ENST00000665585.1:c.1798A=
ENST00000680887.1:c.8920A= ENSP00000505508.1:p.Ile2974=
ENST00000380152.7:c.8920A= ENSP00000369497.3:p.Ile2974=
ENST00000528762.1:c.482A= ENSP00000433168.1:n.482A=
ENST00000544455.5:c.8920A= ENSP00000439902.1:p.Ile2974=
NM_000059.3:c.8920A= , LRG_293t1:c.8920A= NP_000050.2:p.Ile2974=
XM_011535203.1:c.8920A= XP_011533505.1:p.Ile2974=
XM_011535204.1:c.8824A= XP_011533506.1:p.Ile2942=
XM_011535205.1:c.8755-268A= XP_011533507.1:n.8755-268A=
NM_000059.4:c.8920A= MANE Select NP_000050.3:p.Ile2974=