Canonical Allele Identifier: CA2082835908
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398419_32398420delinsGA , CM000675.2:g.32398419_32398420delinsGA GRCh38
NC_000013.10:g.32972556_32972557delinsGA , CM000675.1:g.32972556_32972557delinsGA GRCh37
NC_000013.9:g.31870556_31870557delinsGA NCBI36
NG_012772.3:g.87940_87941delinsGA , LRG_293:g.87940_87941delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*429_*430delinsGA ENSP00000434898.2:n.*429_*430delinsGA
ENST00000528762.2:c.*1273_*1274delinsGA ENSP00000433168.2:n.*1273_*1274delinsGA
ENST00000530893.7:c.9537_9538delinsGA ENSP00000499438.2:p.Arg3179=
ENST00000665585.2:c.*1468_*1469delinsGA ENSP00000499570.2:n.*1468_*1469delinsGA
ENST00000700202.2:c.9855_9856delinsGA ENSP00000514856.2:p.Arg3285=
ENST00000700202.1:c.2322_2323delinsGA ENSP00000514856.1:p.Arg774=
ENST00000700203.1:n.2033_2034delinsGA
ENST00000380152.8:c.9906_9907delinsGA MANE Select ENSP00000369497.3:p.Arg3302=
ENST00000544455.6:c.9906_9907delinsGA ENSP00000439902.1:p.Arg3302=
ENST00000614259.2:c.9914_9915delinsGA ENSP00000506251.1:n.9914_9915delinsGA
ENST00000680887.1:c.9906_9907delinsGA ENSP00000505508.1:p.Arg3302=
ENST00000380152.7:c.9906_9907delinsGA ENSP00000369497.3:p.Arg3302=
ENST00000533776.1:n.494_495delinsGA
ENST00000544455.5:c.9906_9907delinsGA ENSP00000439902.1:p.Arg3302=
NM_000059.3:c.9906_9907delinsGA , LRG_293t1:c.9906_9907delinsGA NP_000050.2:p.Arg3302=
XM_011535203.1:c.9906_9907delinsGA XP_011533505.1:p.Arg3302=
XM_011535204.1:c.9810_9811delinsGA XP_011533506.1:p.Arg3270=
NM_000059.4:c.9906_9907delinsGA MANE Select NP_000050.3:p.Arg3302=