Canonical Allele Identifier: CA2082838692
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379865T= , CM000675.2:g.32379865T= GRCh38
NC_000013.10:g.32954002T= , CM000675.1:g.32954002T= GRCh37
NC_000013.9:g.31852002T= NCBI36
NG_012772.3:g.69386T= , LRG_293:g.69386T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9069T= ENSP00000434898.2:p.Ala3023=
ENST00000528762.2:c.*436T= ENSP00000433168.2:n.*436T=
ENST00000530893.7:c.8700T= ENSP00000499438.2:p.Ala2900=
ENST00000665585.2:c.*631T= ENSP00000499570.2:n.*631T=
ENST00000666593.2:c.9069T= ENSP00000499256.2:p.Ala3023=
ENST00000700202.2:c.9018T= ENSP00000514856.2:p.Ala3006=
ENST00000700202.1:c.1485T= ENSP00000514856.1:p.Ala495=
ENST00000700203.1:n.1196T=
ENST00000380152.8:c.9069T= MANE Select ENSP00000369497.3:p.Ala3023=
ENST00000544455.6:c.9069T= ENSP00000439902.1:p.Ala3023=
ENST00000614259.2:c.9077T= ENSP00000506251.1:n.9077T=
ENST00000665585.1:c.1947T=
ENST00000680887.1:c.9069T= ENSP00000505508.1:p.Ala3023=
ENST00000380152.7:c.9069T= ENSP00000369497.3:p.Ala3023=
ENST00000470094.1:c.26T=
ENST00000544455.5:c.9069T= ENSP00000439902.1:p.Ala3023=
NM_000059.3:c.9069T= , LRG_293t1:c.9069T= NP_000050.2:p.Ala3023=
XM_011535203.1:c.9069T= XP_011533505.1:p.Ala3023=
XM_011535204.1:c.8973T= XP_011533506.1:p.Ala2991=
NM_000059.4:c.9069T= MANE Select NP_000050.3:p.Ala3023=