Canonical Allele Identifier: CA2082832032
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362665_32362666delinsGA , CM000675.2:g.32362665_32362666delinsGA GRCh38
NC_000013.10:g.32936802_32936803delinsGA , CM000675.1:g.32936802_32936803delinsGA GRCh37
NC_000013.9:g.31834802_31834803delinsGA NCBI36
NG_012772.3:g.52186_52187delinsGA , LRG_293:g.52186_52187delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7948_7949delinsGA ENSP00000434898.2:p.Glu2650=
ENST00000528762.2:c.7948_7949delinsGA ENSP00000433168.2:p.Glu2650=
ENST00000530893.7:c.7579_7580delinsGA ENSP00000499438.2:p.Glu2527=
ENST00000665585.2:c.7948_7949delinsGA ENSP00000499570.2:p.Glu2650=
ENST00000666593.2:c.7948_7949delinsGA ENSP00000499256.2:p.Glu2650=
ENST00000700202.2:c.7948_7949delinsGA ENSP00000514856.2:p.Glu2650=
ENST00000700202.1:c.415_416delinsGA ENSP00000514856.1:p.Glu139=
ENST00000380152.8:c.7948_7949delinsGA MANE Select ENSP00000369497.3:p.Glu2650=
ENST00000544455.6:c.7948_7949delinsGA ENSP00000439902.1:p.Glu2650=
ENST00000614259.2:c.7956_7957delinsGA ENSP00000506251.1:n.7956_7957delinsGA
ENST00000665585.1:c.513_514delinsGA
ENST00000680887.1:c.7948_7949delinsGA ENSP00000505508.1:p.Glu2650=
ENST00000380152.7:c.7948_7949delinsGA ENSP00000369497.3:p.Glu2650=
ENST00000544455.5:c.7948_7949delinsGA ENSP00000439902.1:p.Glu2650=
NM_000059.3:c.7948_7949delinsGA , LRG_293t1:c.7948_7949delinsGA NP_000050.2:p.Glu2650=
XM_011535203.1:c.7948_7949delinsGA XP_011533505.1:p.Glu2650=
XM_011535204.1:c.7852_7853delinsGA XP_011533506.1:p.Glu2618=
XM_011535205.1:c.7948_7949delinsGA XP_011533507.1:p.Glu2650=
NM_000059.4:c.7948_7949delinsGA MANE Select NP_000050.3:p.Glu2650=