Canonical Allele Identifier: CA2082831605
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362635_32362645delinsAAGGAATTTGC , CM000675.2:g.32362635_32362645delinsAAGGAATTTGC GRCh38
NC_000013.10:g.32936772_32936782delinsAAGGAATTTGC , CM000675.1:g.32936772_32936782delinsAAGGAATTTGC GRCh37
NC_000013.9:g.31834772_31834782delinsAAGGAATTTGC NCBI36
NG_012772.3:g.52156_52166delinsAAGGAATTTGC , LRG_293:g.52156_52166delinsAAGGAATTTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7918_7928delinsAAGGAATTTGC ENSP00000434898.2:p.Lys2640=
ENST00000528762.2:c.7918_7928delinsAAGGAATTTGC ENSP00000433168.2:p.Lys2640=
ENST00000530893.7:c.7549_7559delinsAAGGAATTTGC ENSP00000499438.2:p.Lys2517=
ENST00000665585.2:c.7918_7928delinsAAGGAATTTGC ENSP00000499570.2:p.Lys2640=
ENST00000666593.2:c.7918_7928delinsAAGGAATTTGC ENSP00000499256.2:p.Lys2640=
ENST00000700202.2:c.7918_7928delinsAAGGAATTTGC ENSP00000514856.2:p.Lys2640=
ENST00000700202.1:c.385_395delinsAAGGAATTTGC ENSP00000514856.1:p.Lys129=
ENST00000380152.8:c.7918_7928delinsAAGGAATTTGC MANE Select ENSP00000369497.3:p.Lys2640=
ENST00000544455.6:c.7918_7928delinsAAGGAATTTGC ENSP00000439902.1:p.Lys2640=
ENST00000614259.2:c.7926_7936delinsAAGGAATTTGC ENSP00000506251.1:p.Leu2642=
ENST00000665585.1:c.483_493delinsAAGGAATTTGC
ENST00000680887.1:c.7918_7928delinsAAGGAATTTGC ENSP00000505508.1:p.Lys2640=
ENST00000380152.7:c.7918_7928delinsAAGGAATTTGC ENSP00000369497.3:p.Lys2640=
ENST00000544455.5:c.7918_7928delinsAAGGAATTTGC ENSP00000439902.1:p.Lys2640=
ENST00000614259.1:n.7926_7936delinsAAGGAATTTGC
NM_000059.3:c.7918_7928delinsAAGGAATTTGC , LRG_293t1:c.7918_7928delinsAAGGAATTTGC NP_000050.2:p.Lys2640=
XM_011535203.1:c.7918_7928delinsAAGGAATTTGC XP_011533505.1:p.Lys2640=
XM_011535204.1:c.7822_7832delinsAAGGAATTTGC XP_011533506.1:p.Lys2608=
XM_011535205.1:c.7918_7928delinsAAGGAATTTGC XP_011533507.1:p.Lys2640=
NM_000059.4:c.7918_7928delinsAAGGAATTTGC MANE Select NP_000050.3:p.Lys2640=