Canonical Allele Identifier: CA2082814403
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340785_32340786delinsGA , CM000675.2:g.32340785_32340786delinsGA GRCh38
NC_000013.10:g.32914922_32914923delinsGA , CM000675.1:g.32914922_32914923delinsGA GRCh37
NC_000013.9:g.31812922_31812923delinsGA NCBI36
NG_012772.3:g.30306_30307delinsGA , LRG_293:g.30306_30307delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.6430_6431delinsGA ENSP00000434898.2:p.Glu2144=
ENST00000528762.2:c.6430_6431delinsGA ENSP00000433168.2:p.Glu2144=
ENST00000530893.7:c.6061_6062delinsGA ENSP00000499438.2:p.Glu2021=
ENST00000665585.2:c.6430_6431delinsGA ENSP00000499570.2:p.Glu2144=
ENST00000666593.2:c.6430_6431delinsGA ENSP00000499256.2:p.Glu2144=
ENST00000700202.2:c.6430_6431delinsGA ENSP00000514856.2:p.Glu2144=
ENST00000380152.8:c.6430_6431delinsGA MANE Select ENSP00000369497.3:p.Glu2144=
ENST00000544455.6:c.6430_6431delinsGA ENSP00000439902.1:p.Glu2144=
ENST00000614259.2:c.6430_6431delinsGA ENSP00000506251.1:p.Glu2144=
ENST00000680887.1:c.6430_6431delinsGA ENSP00000505508.1:p.Glu2144=
ENST00000380152.7:c.6430_6431delinsGA ENSP00000369497.3:p.Glu2144=
ENST00000544455.5:c.6430_6431delinsGA ENSP00000439902.1:p.Glu2144=
ENST00000614259.1:n.6430_6431delinsGA
NM_000059.3:c.6430_6431delinsGA , LRG_293t1:c.6430_6431delinsGA NP_000050.2:p.Glu2144=
XM_011535203.1:c.6430_6431delinsGA XP_011533505.1:p.Glu2144=
XM_011535204.1:c.6430_6431delinsGA XP_011533506.1:p.Glu2144=
XM_011535205.1:c.6430_6431delinsGA XP_011533507.1:p.Glu2144=
NM_000059.4:c.6430_6431delinsGA MANE Select NP_000050.3:p.Glu2144=