Canonical Allele Identifier: CA2082836100
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398452_32398453delinsGA , CM000675.2:g.32398452_32398453delinsGA GRCh38
NC_000013.10:g.32972589_32972590delinsGA , CM000675.1:g.32972589_32972590delinsGA GRCh37
NC_000013.9:g.31870589_31870590delinsGA NCBI36
NG_012772.3:g.87973_87974delinsGA , LRG_293:g.87973_87974delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*462_*463delinsGA ENSP00000434898.2:n.*462_*463delinsGA
ENST00000528762.2:c.*1306_*1307delinsGA ENSP00000433168.2:n.*1306_*1307delinsGA
ENST00000530893.7:c.9570_9571delinsGA ENSP00000499438.2:p.Lys3190=
ENST00000665585.2:c.*1501_*1502delinsGA ENSP00000499570.2:n.*1501_*1502delinsGA
ENST00000700202.2:c.9888_9889delinsGA ENSP00000514856.2:p.Lys3296=
ENST00000700202.1:c.2355_2356delinsGA ENSP00000514856.1:p.Lys785=
ENST00000700203.1:n.2066_2067delinsGA
ENST00000380152.8:c.9939_9940delinsGA MANE Select ENSP00000369497.3:p.Lys3313=
ENST00000544455.6:c.9939_9940delinsGA ENSP00000439902.1:p.Lys3313=
ENST00000614259.2:c.9947_9948delinsGA ENSP00000506251.1:n.9947_9948delinsGA
ENST00000680887.1:c.9939_9940delinsGA ENSP00000505508.1:p.Lys3313=
ENST00000380152.7:c.9939_9940delinsGA ENSP00000369497.3:p.Lys3313=
ENST00000544455.5:c.9939_9940delinsGA ENSP00000439902.1:p.Lys3313=
NM_000059.3:c.9939_9940delinsGA , LRG_293t1:c.9939_9940delinsGA NP_000050.2:p.Lys3313=
XM_011535203.1:c.9939_9940delinsGA XP_011533505.1:p.Lys3313=
XM_011535204.1:c.9843_9844delinsGA XP_011533506.1:p.Lys3281=
NM_000059.4:c.9939_9940delinsGA MANE Select NP_000050.3:p.Lys3313=