Canonical Allele Identifier: CA2082835752
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379379_32379383delinsGAAAC , CM000675.2:g.32379379_32379383delinsGAAAC GRCh38
NC_000013.10:g.32953516_32953520delinsGAAAC , CM000675.1:g.32953516_32953520delinsGAAAC GRCh37
NC_000013.9:g.31851516_31851520delinsGAAAC NCBI36
NG_012772.3:g.68900_68904delinsGAAAC , LRG_293:g.68900_68904delinsGAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8817_8821delinsGAAAC ENSP00000434898.2:p.Lys2939=
ENST00000528762.2:c.*184_*188delinsGAAAC ENSP00000433168.2:n.*184_*188delinsGAAAC
ENST00000530893.7:c.8448_8452delinsGAAAC ENSP00000499438.2:p.Lys2816=
ENST00000665585.2:c.*379_*383delinsGAAAC ENSP00000499570.2:n.*379_*383delinsGAAAC
ENST00000666593.2:c.8817_8821delinsGAAAC ENSP00000499256.2:p.Lys2939=
ENST00000700202.2:c.8817_8821delinsGAAAC ENSP00000514856.2:p.Lys2939=
ENST00000700202.1:c.1284_1288delinsGAAAC ENSP00000514856.1:p.Lys428=
ENST00000700203.1:n.944_948delinsGAAAC
ENST00000380152.8:c.8817_8821delinsGAAAC MANE Select ENSP00000369497.3:p.Lys2939=
ENST00000544455.6:c.8817_8821delinsGAAAC ENSP00000439902.1:p.Lys2939=
ENST00000614259.2:c.8825_8829delinsGAAAC ENSP00000506251.1:n.8825_8829delinsGAAAC
ENST00000665585.1:c.1695_1699delinsGAAAC
ENST00000680887.1:c.8817_8821delinsGAAAC ENSP00000505508.1:p.Lys2939=
ENST00000380152.7:c.8817_8821delinsGAAAC ENSP00000369497.3:p.Lys2939=
ENST00000528762.1:c.379_383delinsGAAAC ENSP00000433168.1:n.379_383delinsGAAAC
ENST00000544455.5:c.8817_8821delinsGAAAC ENSP00000439902.1:p.Lys2939=
NM_000059.3:c.8817_8821delinsGAAAC , LRG_293t1:c.8817_8821delinsGAAAC NP_000050.2:p.Lys2939=
XM_011535203.1:c.8817_8821delinsGAAAC XP_011533505.1:p.Lys2939=
XM_011535204.1:c.8721_8725delinsGAAAC XP_011533506.1:p.Lys2907=
XM_011535205.1:c.8755-371_8755-367delinsGAAAC XP_011533507.1:n.8755-371_8755-367delinsGAAAC
NM_000059.4:c.8817_8821delinsGAAAC MANE Select NP_000050.3:p.Lys2939=