Canonical Allele Identifier: CA2082835377
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379322T= , CM000675.2:g.32379322T= GRCh38
NC_000013.10:g.32953459T= , CM000675.1:g.32953459T= GRCh37
NC_000013.9:g.31851459T= NCBI36
NG_012772.3:g.68843T= , LRG_293:g.68843T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8760T= ENSP00000434898.2:p.Tyr2920=
ENST00000528762.2:c.*127T= ENSP00000433168.2:n.*127T=
ENST00000530893.7:c.8391T= ENSP00000499438.2:p.Tyr2797=
ENST00000665585.2:c.*322T= ENSP00000499570.2:n.*322T=
ENST00000666593.2:c.8760T= ENSP00000499256.2:p.Tyr2920=
ENST00000700202.2:c.8760T= ENSP00000514856.2:p.Tyr2920=
ENST00000700202.1:c.1227T= ENSP00000514856.1:p.Tyr409=
ENST00000700203.1:n.887T=
ENST00000380152.8:c.8760T= MANE Select ENSP00000369497.3:p.Tyr2920=
ENST00000544455.6:c.8760T= ENSP00000439902.1:p.Tyr2920=
ENST00000614259.2:c.8768T= ENSP00000506251.1:n.8768T=
ENST00000665585.1:c.1638T=
ENST00000680887.1:c.8760T= ENSP00000505508.1:p.Tyr2920=
ENST00000380152.7:c.8760T= ENSP00000369497.3:p.Tyr2920=
ENST00000528762.1:c.322T= ENSP00000433168.1:n.322T=
ENST00000544455.5:c.8760T= ENSP00000439902.1:p.Tyr2920=
NM_000059.3:c.8760T= , LRG_293t1:c.8760T= NP_000050.2:p.Tyr2920=
XM_011535203.1:c.8760T= XP_011533505.1:p.Tyr2920=
XM_011535204.1:c.8664T= XP_011533506.1:p.Tyr2888=
XM_011535205.1:c.8755-428T= XP_011533507.1:n.8755-428T=
NM_000059.4:c.8760T= MANE Select NP_000050.3:p.Tyr2920=