Canonical Allele Identifier: CA2082834448
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398231G= , CM000675.2:g.32398231G= GRCh38
NC_000013.10:g.32972368G= , CM000675.1:g.32972368G= GRCh37
NC_000013.9:g.31870368G= NCBI36
NG_012772.3:g.87752G= , LRG_293:g.87752G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*241G= ENSP00000434898.2:n.*241G=
ENST00000528762.2:c.*1085G= ENSP00000433168.2:n.*1085G=
ENST00000530893.7:c.9349G= ENSP00000499438.2:p.Val3117=
ENST00000665585.2:c.*1280G= ENSP00000499570.2:n.*1280G=
ENST00000700202.2:c.9667G= ENSP00000514856.2:p.Val3223=
ENST00000700202.1:c.2134G= ENSP00000514856.1:p.Val712=
ENST00000700203.1:n.1845G=
ENST00000380152.8:c.9718G= MANE Select ENSP00000369497.3:p.Val3240=
ENST00000544455.6:c.9718G= ENSP00000439902.1:p.Val3240=
ENST00000614259.2:c.9726G= ENSP00000506251.1:n.9726G=
ENST00000665585.1:c.2596G=
ENST00000680887.1:c.9718G= ENSP00000505508.1:p.Val3240=
ENST00000380152.7:c.9718G= ENSP00000369497.3:p.Val3240=
ENST00000470094.1:c.801G=
ENST00000533776.1:n.306G=
ENST00000544455.5:c.9718G= ENSP00000439902.1:p.Val3240=
NM_000059.3:c.9718G= , LRG_293t1:c.9718G= NP_000050.2:p.Val3240=
XM_011535203.1:c.9718G= XP_011533505.1:p.Val3240=
XM_011535204.1:c.9622G= XP_011533506.1:p.Val3208=
NM_000059.4:c.9718G= MANE Select NP_000050.3:p.Val3240=