Canonical Allele Identifier: CA2082837329
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398607T= , CM000675.2:g.32398607T= GRCh38
NC_000013.10:g.32972744T= , CM000675.1:g.32972744T= GRCh37
NC_000013.9:g.31870744T= NCBI36
NG_012772.3:g.88128T= , LRG_293:g.88128T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*617T= ENSP00000434898.2:n.*617T=
ENST00000528762.2:c.*1461T= ENSP00000433168.2:n.*1461T=
ENST00000530893.7:c.9725T= ENSP00000499438.2:p.Val3242=
ENST00000665585.2:c.*1656T= ENSP00000499570.2:n.*1656T=
ENST00000700202.2:c.10043T= ENSP00000514856.2:p.Val3348=
ENST00000700202.1:c.2510T= ENSP00000514856.1:p.Val837=
ENST00000700203.1:n.2221T=
ENST00000380152.8:c.10094T= MANE Select ENSP00000369497.3:p.Val3365=
ENST00000544455.6:c.10094T= ENSP00000439902.1:p.Val3365=
ENST00000614259.2:c.10102T= ENSP00000506251.1:n.10102T=
ENST00000680887.1:c.10094T= ENSP00000505508.1:p.Val3365=
ENST00000380152.7:c.10094T= ENSP00000369497.3:p.Val3365=
ENST00000544455.5:c.10094T= ENSP00000439902.1:p.Val3365=
NM_000059.3:c.10094T= , LRG_293t1:c.10094T= NP_000050.2:p.Val3365=
XM_011535203.1:c.10094T= XP_011533505.1:p.Val3365=
XM_011535204.1:c.9998T= XP_011533506.1:p.Val3333=
NM_000059.4:c.10094T= MANE Select NP_000050.3:p.Val3365=