Canonical Allele Identifier: CA2082836604
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379494T= , CM000675.2:g.32379494T= GRCh38
NC_000013.10:g.32953631T= , CM000675.1:g.32953631T= GRCh37
NC_000013.9:g.31851631T= NCBI36
NG_012772.3:g.69015T= , LRG_293:g.69015T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8932T= ENSP00000434898.2:p.Ser2978=
ENST00000528762.2:c.*299T= ENSP00000433168.2:n.*299T=
ENST00000530893.7:c.8563T= ENSP00000499438.2:p.Ser2855=
ENST00000665585.2:c.*494T= ENSP00000499570.2:n.*494T=
ENST00000666593.2:c.8932T= ENSP00000499256.2:p.Ser2978=
ENST00000700202.2:c.8932T= ENSP00000514856.2:p.Ser2978=
ENST00000700202.1:c.1399T= ENSP00000514856.1:p.Ser467=
ENST00000700203.1:n.1059T=
ENST00000380152.8:c.8932T= MANE Select ENSP00000369497.3:p.Ser2978=
ENST00000544455.6:c.8932T= ENSP00000439902.1:p.Ser2978=
ENST00000614259.2:c.8940T= ENSP00000506251.1:n.8940T=
ENST00000665585.1:c.1810T=
ENST00000680887.1:c.8932T= ENSP00000505508.1:p.Ser2978=
ENST00000380152.7:c.8932T= ENSP00000369497.3:p.Ser2978=
ENST00000528762.1:c.494T= ENSP00000433168.1:n.494T=
ENST00000544455.5:c.8932T= ENSP00000439902.1:p.Ser2978=
NM_000059.3:c.8932T= , LRG_293t1:c.8932T= NP_000050.2:p.Ser2978=
XM_011535203.1:c.8932T= XP_011533505.1:p.Ser2978=
XM_011535204.1:c.8836T= XP_011533506.1:p.Ser2946=
XM_011535205.1:c.8755-256T= XP_011533507.1:n.8755-256T=
NM_000059.4:c.8932T= MANE Select NP_000050.3:p.Ser2978=