Canonical Allele Identifier: CA2082836682
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398553T= , CM000675.2:g.32398553T= GRCh38
NC_000013.10:g.32972690T= , CM000675.1:g.32972690T= GRCh37
NC_000013.9:g.31870690T= NCBI36
NG_012772.3:g.88074T= , LRG_293:g.88074T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*563T= ENSP00000434898.2:n.*563T=
ENST00000528762.2:c.*1407T= ENSP00000433168.2:n.*1407T=
ENST00000530893.7:c.9671T= ENSP00000499438.2:p.Ile3224=
ENST00000665585.2:c.*1602T= ENSP00000499570.2:n.*1602T=
ENST00000700202.2:c.9989T= ENSP00000514856.2:p.Ile3330=
ENST00000700202.1:c.2456T= ENSP00000514856.1:p.Ile819=
ENST00000700203.1:n.2167T=
ENST00000380152.8:c.10040T= MANE Select ENSP00000369497.3:p.Ile3347=
ENST00000544455.6:c.10040T= ENSP00000439902.1:p.Ile3347=
ENST00000614259.2:c.10048T= ENSP00000506251.1:n.10048T=
ENST00000680887.1:c.10040T= ENSP00000505508.1:p.Ile3347=
ENST00000380152.7:c.10040T= ENSP00000369497.3:p.Ile3347=
ENST00000544455.5:c.10040T= ENSP00000439902.1:p.Ile3347=
NM_000059.3:c.10040T= , LRG_293t1:c.10040T= NP_000050.2:p.Ile3347=
XM_011535203.1:c.10040T= XP_011533505.1:p.Ile3347=
XM_011535204.1:c.9944T= XP_011533506.1:p.Ile3315=
NM_000059.4:c.10040T= MANE Select NP_000050.3:p.Ile3347=