Canonical Allele Identifier: CA2082759163
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330960_32330961delinsGA , CM000675.2:g.32330960_32330961delinsGA GRCh38
NC_000013.10:g.32905097_32905098delinsGA , CM000675.1:g.32905097_32905098delinsGA GRCh37
NC_000013.9:g.31803097_31803098delinsGA NCBI36
NG_012772.3:g.20481_20482delinsGA , LRG_293:g.20481_20482delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.723_724delinsGA ENSP00000434898.2:p.Lys241=
ENST00000528762.2:c.723_724delinsGA ENSP00000433168.2:p.Lys241=
ENST00000530893.7:c.354_355delinsGA ENSP00000499438.2:p.Lys118=
ENST00000665585.2:c.723_724delinsGA ENSP00000499570.2:p.Lys241=
ENST00000666593.2:c.723_724delinsGA ENSP00000499256.2:p.Lys241=
ENST00000700202.2:c.723_724delinsGA ENSP00000514856.2:p.Lys241=
ENST00000700201.1:c.*502_*503delinsGA ENSP00000514855.1:n.*502_*503delinsGA
ENST00000380152.8:c.723_724delinsGA MANE Select ENSP00000369497.3:p.Lys241=
ENST00000544455.6:c.723_724delinsGA ENSP00000439902.1:p.Lys241=
ENST00000614259.2:c.723_724delinsGA ENSP00000506251.1:p.Lys241=
ENST00000680887.1:c.723_724delinsGA ENSP00000505508.1:p.Lys241=
ENST00000380152.7:c.723_724delinsGA ENSP00000369497.3:p.Lys241=
ENST00000530893.6:n.921_922delinsGA
ENST00000544455.5:c.723_724delinsGA ENSP00000439902.1:p.Lys241=
ENST00000614259.1:n.723_724delinsGA
NM_000059.3:c.723_724delinsGA , LRG_293t1:c.723_724delinsGA NP_000050.2:p.Lys241=
XM_011535203.1:c.723_724delinsGA XP_011533505.1:p.Lys241=
XM_011535204.1:c.723_724delinsGA XP_011533506.1:p.Lys241=
XM_011535205.1:c.723_724delinsGA XP_011533507.1:p.Lys241=
NM_000059.4:c.723_724delinsGA MANE Select NP_000050.3:p.Lys241=