Canonical Allele Identifier: CA2082837452
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379751T= , CM000675.2:g.32379751T= GRCh38
NC_000013.10:g.32953888T= , CM000675.1:g.32953888T= GRCh37
NC_000013.9:g.31851888T= NCBI36
NG_012772.3:g.69272T= , LRG_293:g.69272T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8955T= ENSP00000434898.2:p.Val2985=
ENST00000528762.2:c.*322T= ENSP00000433168.2:n.*322T=
ENST00000530893.7:c.8586T= ENSP00000499438.2:p.Val2862=
ENST00000665585.2:c.*517T= ENSP00000499570.2:n.*517T=
ENST00000666593.2:c.8955T= ENSP00000499256.2:p.Val2985=
ENST00000700202.2:c.8954-50T= ENSP00000514856.2:n.8954-50T=
ENST00000700202.1:c.1421-50T= ENSP00000514856.1:n.1421-50T=
ENST00000700203.1:n.1082T=
ENST00000380152.8:c.8955T= MANE Select ENSP00000369497.3:p.Val2985=
ENST00000544455.6:c.8955T= ENSP00000439902.1:p.Val2985=
ENST00000614259.2:c.8963T= ENSP00000506251.1:n.8963T=
ENST00000665585.1:c.1833T=
ENST00000680887.1:c.8955T= ENSP00000505508.1:p.Val2985=
ENST00000380152.7:c.8955T= ENSP00000369497.3:p.Val2985=
ENST00000544455.5:c.8955T= ENSP00000439902.1:p.Val2985=
NM_000059.3:c.8955T= , LRG_293t1:c.8955T= NP_000050.2:p.Val2985=
XM_011535203.1:c.8955T= XP_011533505.1:p.Val2985=
XM_011535204.1:c.8859T= XP_011533506.1:p.Val2953=
XM_011535205.1:c.8756T= XP_011533507.1:p.Leu2919=
NM_000059.4:c.8955T= MANE Select NP_000050.3:p.Val2985=