Canonical Allele Identifier: CA025697
Community Standard Title: NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846GlyfsTer22)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371005_32371006del , CM000675.2:g.32371005_32371006del GRCh38
NC_000013.10:g.32945142_32945143del , CM000675.1:g.32945142_32945143del GRCh37
NC_000013.9:g.31843142_31843143del NCBI36
NG_012772.3:g.60526_60527del , LRG_293:g.60526_60527del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8537_8538del MANE Select NP_000050.3:p.Glu2846GlyfsTer22
ENST00000380152.8:c.8537_8538del MANE Select ENSP00000369497.3:p.Glu2846GlyfsTer22
NM_000059.3:c.8537_8538del , LRG_293t1:c.8537_8538del NP_000050.2:p.Glu2846GlyfsTer22
ENST00000380152.7:c.8537_8538del ENSP00000369497.3:p.Glu2846GlyfsTer22
ENST00000470094.2:c.8537_8538del ENSP00000434898.2:p.Glu2846GlyfsTer22
ENST00000528762.1:c.35_36del ENSP00000433168.1:p.Glu12GlyfsTer22
ENST00000528762.2:c.8537_8538del ENSP00000433168.2:p.Glu2846GlyfsTer22
ENST00000530893.7:c.8168_8169del ENSP00000499438.2:p.Glu2723GlyfsTer22
ENST00000544455.5:c.8537_8538del ENSP00000439902.1:p.Glu2846GlyfsTer22
ENST00000544455.6:c.8537_8538del ENSP00000439902.1:p.Glu2846GlyfsTer22
ENST00000614259.2:c.8545_8546del ENSP00000506251.1:n.8545_8546del
ENST00000665585.1:c.1102_1103del
ENST00000665585.2:c.8537_8538del ENSP00000499570.2:p.Glu2846GlyfsTer22
ENST00000666593.2:c.8537_8538del ENSP00000499256.2:p.Glu2846GlyfsTer22
ENST00000680887.1:c.8537_8538del ENSP00000505508.1:p.Glu2846GlyfsTer22
ENST00000700202.1:c.1004_1005del ENSP00000514856.1:p.Glu335GlyfsTer22
ENST00000700202.2:c.8537_8538del ENSP00000514856.2:p.Glu2846GlyfsTer22
XM_011535203.1:c.8537_8538del XP_011533505.1:p.Glu2846GlyfsTer22
XM_011535204.1:c.8441_8442del XP_011533506.1:p.Glu2814GlyfsTer22
XM_011535205.1:c.8537_8538del XP_011533507.1:p.Glu2846GlyfsTer22