Canonical Allele Identifier: CA2507872694
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371046_32371047insTTT , CM000675.2:g.32371046_32371047insTTT GRCh38
NC_000013.10:g.32945183_32945184insTTT , CM000675.1:g.32945183_32945184insTTT GRCh37
NC_000013.9:g.31843183_31843184insTTT NCBI36
NG_012772.3:g.60567_60568insTTT , LRG_293:g.60567_60568insTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8578_8579insTTT ENSP00000434898.2:p.Lys2860IlefsTer2
ENST00000528762.2:c.8578_8579insTTT ENSP00000433168.2:p.Lys2860IlefsTer2
ENST00000530893.7:c.8209_8210insTTT ENSP00000499438.2:p.Lys2737IlefsTer2
ENST00000665585.2:c.8578_8579insTTT ENSP00000499570.2:p.Lys2860IlefsTer2
ENST00000666593.2:c.8578_8579insTTT ENSP00000499256.2:p.Lys2860IlefsTer2
ENST00000700202.2:c.8578_8579insTTT ENSP00000514856.2:p.Lys2860IlefsTer2
ENST00000700202.1:c.1045_1046insTTT ENSP00000514856.1:p.Lys349IlefsTer2
ENST00000380152.8:c.8578_8579insTTT MANE Select ENSP00000369497.3:p.Lys2860IlefsTer2
ENST00000544455.6:c.8578_8579insTTT ENSP00000439902.1:p.Lys2860IlefsTer2
ENST00000614259.2:c.8586_8587insTTT ENSP00000506251.1:n.8586_8587insTTT
ENST00000665585.1:c.1143_1144insTTT
ENST00000680887.1:c.8578_8579insTTT ENSP00000505508.1:p.Lys2860IlefsTer2
ENST00000380152.7:c.8578_8579insTTT ENSP00000369497.3:p.Lys2860IlefsTer2
ENST00000528762.1:c.76_77insTTT ENSP00000433168.1:p.Lys26IlefsTer2
ENST00000544455.5:c.8578_8579insTTT ENSP00000439902.1:p.Lys2860IlefsTer2
NM_000059.3:c.8578_8579insTTT , LRG_293t1:c.8578_8579insTTT NP_000050.2:p.Lys2860IlefsTer2
XM_011535203.1:c.8578_8579insTTT XP_011533505.1:p.Lys2860IlefsTer2
XM_011535204.1:c.8482_8483insTTT XP_011533506.1:p.Lys2828IlefsTer2
XM_011535205.1:c.8578_8579insTTT XP_011533507.1:p.Lys2860IlefsTer2
NM_000059.4:c.8578_8579insTTT MANE Select NP_000050.3:p.Lys2860IlefsTer2