Canonical Allele Identifier: CA2082838243
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379818A= , CM000675.2:g.32379818A= GRCh38
NC_000013.10:g.32953955A= , CM000675.1:g.32953955A= GRCh37
NC_000013.9:g.31851955A= NCBI36
NG_012772.3:g.69339A= , LRG_293:g.69339A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9022A= ENSP00000434898.2:p.Ile3008=
ENST00000528762.2:c.*389A= ENSP00000433168.2:n.*389A=
ENST00000530893.7:c.8653A= ENSP00000499438.2:p.Ile2885=
ENST00000665585.2:c.*584A= ENSP00000499570.2:n.*584A=
ENST00000666593.2:c.9022A= ENSP00000499256.2:p.Ile3008=
ENST00000700202.2:c.8971A= ENSP00000514856.2:p.Ile2991=
ENST00000700202.1:c.1438A= ENSP00000514856.1:p.Ile480=
ENST00000700203.1:n.1149A=
ENST00000380152.8:c.9022A= MANE Select ENSP00000369497.3:p.Ile3008=
ENST00000544455.6:c.9022A= ENSP00000439902.1:p.Ile3008=
ENST00000614259.2:c.9030A= ENSP00000506251.1:n.9030A=
ENST00000665585.1:c.1900A=
ENST00000680887.1:c.9022A= ENSP00000505508.1:p.Ile3008=
ENST00000380152.7:c.9022A= ENSP00000369497.3:p.Ile3008=
ENST00000544455.5:c.9022A= ENSP00000439902.1:p.Ile3008=
NM_000059.3:c.9022A= , LRG_293t1:c.9022A= NP_000050.2:p.Ile3008=
XM_011535203.1:c.9022A= XP_011533505.1:p.Ile3008=
XM_011535204.1:c.8926A= XP_011533506.1:p.Ile2976=
XM_011535205.1:c.*60A= XP_011533507.1:n.*60A=
NM_000059.4:c.9022A= MANE Select NP_000050.3:p.Ile3008=