Canonical Allele Identifier: CA2082834766
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398256T= , CM000675.2:g.32398256T= GRCh38
NC_000013.10:g.32972393T= , CM000675.1:g.32972393T= GRCh37
NC_000013.9:g.31870393T= NCBI36
NG_012772.3:g.87777T= , LRG_293:g.87777T=

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*266T= ENSP00000434898.2:n.*266T=
ENST00000528762.2:c.*1110T= ENSP00000433168.2:n.*1110T=
ENST00000530893.7:c.9374T= ENSP00000499438.2:p.Met3125=
ENST00000665585.2:c.*1305T= ENSP00000499570.2:n.*1305T=
ENST00000700202.2:c.9692T= ENSP00000514856.2:p.Met3231=
ENST00000700202.1:c.2159T= ENSP00000514856.1:p.Met720=
ENST00000700203.1:n.1870T=
ENST00000380152.8:c.9743T= MANE Select ENSP00000369497.3:p.Met3248=
ENST00000544455.6:c.9743T= ENSP00000439902.1:p.Met3248=
ENST00000614259.2:c.9751T= ENSP00000506251.1:n.9751T=
ENST00000680887.1:c.9743T= ENSP00000505508.1:p.Met3248=
ENST00000380152.7:c.9743T= ENSP00000369497.3:p.Met3248=
ENST00000470094.1:c.826T=
ENST00000533776.1:n.331T=
ENST00000544455.5:c.9743T= ENSP00000439902.1:p.Met3248=
NM_000059.3:c.9743T= , LRG_293t1:c.9743T= NP_000050.2:p.Met3248=
XM_011535203.1:c.9743T= XP_011533505.1:p.Met3248=
XM_011535204.1:c.9647T= XP_011533506.1:p.Met3216=
NM_000059.4:c.9743T= MANE Select NP_000050.3:p.Met3248=