Canonical Allele Identifier: CA2082831659
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362637_32362643delinsGGAATTT , CM000675.2:g.32362637_32362643delinsGGAATTT GRCh38
NC_000013.10:g.32936774_32936780delinsGGAATTT , CM000675.1:g.32936774_32936780delinsGGAATTT GRCh37
NC_000013.9:g.31834774_31834780delinsGGAATTT NCBI36
NG_012772.3:g.52158_52164delinsGGAATTT , LRG_293:g.52158_52164delinsGGAATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7920_7926delinsGGAATTT ENSP00000434898.2:p.Lys2640=
ENST00000528762.2:c.7920_7926delinsGGAATTT ENSP00000433168.2:p.Lys2640=
ENST00000530893.7:c.7551_7557delinsGGAATTT ENSP00000499438.2:p.Lys2517=
ENST00000665585.2:c.7920_7926delinsGGAATTT ENSP00000499570.2:p.Lys2640=
ENST00000666593.2:c.7920_7926delinsGGAATTT ENSP00000499256.2:p.Lys2640=
ENST00000700202.2:c.7920_7926delinsGGAATTT ENSP00000514856.2:p.Lys2640=
ENST00000700202.1:c.387_393delinsGGAATTT ENSP00000514856.1:p.Lys129=
ENST00000380152.8:c.7920_7926delinsGGAATTT MANE Select ENSP00000369497.3:p.Lys2640=
ENST00000544455.6:c.7920_7926delinsGGAATTT ENSP00000439902.1:p.Lys2640=
ENST00000614259.2:c.7928_7934delinsGGAATTT ENSP00000506251.1:p.Arg2643=
ENST00000665585.1:c.485_491delinsGGAATTT
ENST00000680887.1:c.7920_7926delinsGGAATTT ENSP00000505508.1:p.Lys2640=
ENST00000380152.7:c.7920_7926delinsGGAATTT ENSP00000369497.3:p.Lys2640=
ENST00000544455.5:c.7920_7926delinsGGAATTT ENSP00000439902.1:p.Lys2640=
ENST00000614259.1:n.7928_7934delinsGGAATTT
NM_000059.3:c.7920_7926delinsGGAATTT , LRG_293t1:c.7920_7926delinsGGAATTT NP_000050.2:p.Lys2640=
XM_011535203.1:c.7920_7926delinsGGAATTT XP_011533505.1:p.Lys2640=
XM_011535204.1:c.7824_7830delinsGGAATTT XP_011533506.1:p.Lys2608=
XM_011535205.1:c.7920_7926delinsGGAATTT XP_011533507.1:p.Lys2640=
NM_000059.4:c.7920_7926delinsGGAATTT MANE Select NP_000050.3:p.Lys2640=