Canonical Allele Identifier: CA2082829797
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376830T= , CM000675.2:g.32376830T= GRCh38
NC_000013.10:g.32950967T= , CM000675.1:g.32950967T= GRCh37
NC_000013.9:g.31848967T= NCBI36
NG_012772.3:g.66351T= , LRG_293:g.66351T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8754+39T= ENSP00000434898.2:n.8754+39T=
ENST00000528762.2:c.*121+39T= ENSP00000433168.2:n.*121+39T=
ENST00000530893.7:c.8385+39T= ENSP00000499438.2:n.8385+39T=
ENST00000665585.2:c.*316+39T= ENSP00000499570.2:n.*316+39T=
ENST00000666593.2:c.8754+39T= ENSP00000499256.2:n.8754+39T=
ENST00000700202.2:c.8754+39T= ENSP00000514856.2:n.8754+39T=
ENST00000700202.1:c.1221+39T= ENSP00000514856.1:n.1221+39T=
ENST00000700203.1:n.881+39T=
ENST00000380152.8:c.8754+39T= MANE Select ENSP00000369497.3:n.8754+39T=
ENST00000544455.6:c.8754+39T= ENSP00000439902.1:n.8754+39T=
ENST00000614259.2:c.8762+39T= ENSP00000506251.1:n.8762+39T=
ENST00000665585.1:c.1632+39T=
ENST00000680887.1:c.8754+39T= ENSP00000505508.1:n.8754+39T=
ENST00000380152.7:c.8754+39T= ENSP00000369497.3:n.8754+39T=
ENST00000528762.1:c.316+39T= ENSP00000433168.1:n.316+39T=
ENST00000544455.5:c.8754+39T= ENSP00000439902.1:n.8754+39T=
NM_000059.3:c.8754+39T= , LRG_293t1:c.8754+39T= NP_000050.2:n.8754+39T=
XM_011535203.1:c.8754+39T= XP_011533505.1:n.8754+39T=
XM_011535204.1:c.8658+39T= XP_011533506.1:n.8658+39T=
XM_011535205.1:c.8754+39T= XP_011533507.1:n.8754+39T=
NM_000059.4:c.8754+39T= MANE Select NP_000050.3:n.8754+39T=