Canonical Allele Identifier: CA2082836340
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379472_32379473delinsGA , CM000675.2:g.32379472_32379473delinsGA GRCh38
NC_000013.10:g.32953609_32953610delinsGA , CM000675.1:g.32953609_32953610delinsGA GRCh37
NC_000013.9:g.31851609_31851610delinsGA NCBI36
NG_012772.3:g.68993_68994delinsGA , LRG_293:g.68993_68994delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8910_8911delinsGA ENSP00000434898.2:p.Trp2970=
ENST00000528762.2:c.*277_*278delinsGA ENSP00000433168.2:n.*277_*278delinsGA
ENST00000530893.7:c.8541_8542delinsGA ENSP00000499438.2:p.Trp2847=
ENST00000665585.2:c.*472_*473delinsGA ENSP00000499570.2:n.*472_*473delinsGA
ENST00000666593.2:c.8910_8911delinsGA ENSP00000499256.2:p.Trp2970=
ENST00000700202.2:c.8910_8911delinsGA ENSP00000514856.2:p.Trp2970=
ENST00000700202.1:c.1377_1378delinsGA ENSP00000514856.1:p.Trp459=
ENST00000700203.1:n.1037_1038delinsGA
ENST00000380152.8:c.8910_8911delinsGA MANE Select ENSP00000369497.3:p.Trp2970=
ENST00000544455.6:c.8910_8911delinsGA ENSP00000439902.1:p.Trp2970=
ENST00000614259.2:c.8918_8919delinsGA ENSP00000506251.1:n.8918_8919delinsGA
ENST00000665585.1:c.1788_1789delinsGA
ENST00000680887.1:c.8910_8911delinsGA ENSP00000505508.1:p.Trp2970=
ENST00000380152.7:c.8910_8911delinsGA ENSP00000369497.3:p.Trp2970=
ENST00000528762.1:c.472_473delinsGA ENSP00000433168.1:n.472_473delinsGA
ENST00000544455.5:c.8910_8911delinsGA ENSP00000439902.1:p.Trp2970=
NM_000059.3:c.8910_8911delinsGA , LRG_293t1:c.8910_8911delinsGA NP_000050.2:p.Trp2970=
XM_011535203.1:c.8910_8911delinsGA XP_011533505.1:p.Trp2970=
XM_011535204.1:c.8814_8815delinsGA XP_011533506.1:p.Trp2938=
XM_011535205.1:c.8755-278_8755-277delinsGA XP_011533507.1:n.8755-278_8755-277delinsGA
NM_000059.4:c.8910_8911delinsGA MANE Select NP_000050.3:p.Trp2970=