Canonical Allele Identifier: CA023923
Community Standard Title: NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111GlufsTer17)
Gene: BRCA2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340686_32340687del , CM000675.2:g.32340686_32340687del GRCh38
NC_000013.10:g.32914823_32914824del , CM000675.1:g.32914823_32914824del GRCh37
NC_000013.9:g.31812823_31812824del NCBI36
NG_012772.3:g.30207_30208del , LRG_293:g.30207_30208del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.6331_6332del MANE Select NP_000050.3:p.Lys2111GlufsTer17
ENST00000380152.8:c.6331_6332del MANE Select ENSP00000369497.3:p.Lys2111GlufsTer17
NM_000059.3:c.6331_6332del , LRG_293t1:c.6331_6332del NP_000050.2:p.Lys2111GlufsTer17
ENST00000380152.7:c.6331_6332del ENSP00000369497.3:p.Lys2111GlufsTer17
ENST00000470094.2:c.6331_6332del ENSP00000434898.2:p.Lys2111GlufsTer17
ENST00000528762.2:c.6331_6332del ENSP00000433168.2:p.Lys2111GlufsTer17
ENST00000530893.7:c.5962_5963del ENSP00000499438.2:p.Lys1988GlufsTer17
ENST00000544455.5:c.6331_6332del ENSP00000439902.1:p.Lys2111GlufsTer17
ENST00000544455.6:c.6331_6332del ENSP00000439902.1:p.Lys2111GlufsTer17
ENST00000614259.1:n.6331_6332del
ENST00000614259.2:c.6331_6332del ENSP00000506251.1:p.Lys2111GlufsTer17
ENST00000665585.2:c.6331_6332del ENSP00000499570.2:p.Lys2111GlufsTer17
ENST00000666593.2:c.6331_6332del ENSP00000499256.2:p.Lys2111GlufsTer17
ENST00000680887.1:c.6331_6332del ENSP00000505508.1:p.Lys2111GlufsTer17
ENST00000700202.2:c.6331_6332del ENSP00000514856.2:p.Lys2111GlufsTer17
XM_011535203.1:c.6331_6332del XP_011533505.1:p.Lys2111GlufsTer17
XM_011535204.1:c.6331_6332del XP_011533506.1:p.Lys2111GlufsTer17
XM_011535205.1:c.6331_6332del XP_011533507.1:p.Lys2111GlufsTer17
Search 100 bp 5'
Search 100 bp 3'