Canonical Allele Identifier: CA2082829530
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376783T= , CM000675.2:g.32376783T= GRCh38
NC_000013.10:g.32950920T= , CM000675.1:g.32950920T= GRCh37
NC_000013.9:g.31848920T= NCBI36
NG_012772.3:g.66304T= , LRG_293:g.66304T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8746T= ENSP00000434898.2:p.Tyr2916=
ENST00000528762.2:c.*113T= ENSP00000433168.2:n.*113T=
ENST00000530893.7:c.8377T= ENSP00000499438.2:p.Tyr2793=
ENST00000665585.2:c.*308T= ENSP00000499570.2:n.*308T=
ENST00000666593.2:c.8746T= ENSP00000499256.2:p.Tyr2916=
ENST00000700202.2:c.8746T= ENSP00000514856.2:p.Tyr2916=
ENST00000700202.1:c.1213T= ENSP00000514856.1:p.Tyr405=
ENST00000700203.1:n.873T=
ENST00000380152.8:c.8746T= MANE Select ENSP00000369497.3:p.Tyr2916=
ENST00000544455.6:c.8746T= ENSP00000439902.1:p.Tyr2916=
ENST00000614259.2:c.8754T= ENSP00000506251.1:n.8754T=
ENST00000665585.1:c.1624T=
ENST00000680887.1:c.8746T= ENSP00000505508.1:p.Tyr2916=
ENST00000380152.7:c.8746T= ENSP00000369497.3:p.Tyr2916=
ENST00000528762.1:c.308T= ENSP00000433168.1:n.308T=
ENST00000544455.5:c.8746T= ENSP00000439902.1:p.Tyr2916=
NM_000059.3:c.8746T= , LRG_293t1:c.8746T= NP_000050.2:p.Tyr2916=
XM_011535203.1:c.8746T= XP_011533505.1:p.Tyr2916=
XM_011535204.1:c.8650T= XP_011533506.1:p.Tyr2884=
XM_011535205.1:c.8746T= XP_011533507.1:p.Tyr2916=
NM_000059.4:c.8746T= MANE Select NP_000050.3:p.Tyr2916=