Canonical Allele Identifier: CA2837994583
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356515_32356518del , CM000675.2:g.32356515_32356518del GRCh38
NC_000013.10:g.32930652_32930655del , CM000675.1:g.32930652_32930655del GRCh37
NC_000013.9:g.31828652_31828655del NCBI36
NG_012772.3:g.46036_46039del , LRG_293:g.46036_46039del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7523_7526del ENSP00000434898.2:p.Gly2508ValfsTer15
ENST00000528762.2:c.7523_7526del ENSP00000433168.2:p.Gly2508ValfsTer15
ENST00000530893.7:c.7154_7157del ENSP00000499438.2:p.Gly2385ValfsTer15
ENST00000665585.2:c.7523_7526del ENSP00000499570.2:p.Gly2508ValfsTer15
ENST00000666593.2:c.7523_7526del ENSP00000499256.2:p.Gly2508ValfsTer15
ENST00000700202.2:c.7523_7526del ENSP00000514856.2:p.Gly2508ValfsTer15
ENST00000380152.8:c.7523_7526del MANE Select ENSP00000369497.3:p.Gly2508ValfsTer15
ENST00000544455.6:c.7523_7526del ENSP00000439902.1:p.Gly2508ValfsTer15
ENST00000614259.2:c.7523_7526del ENSP00000506251.1:p.Gly2508ValfsTer15
ENST00000665585.1:c.88_91del
ENST00000680887.1:c.7523_7526del ENSP00000505508.1:p.Gly2508ValfsTer15
ENST00000380152.7:c.7523_7526del ENSP00000369497.3:p.Gly2508ValfsTer15
ENST00000544455.5:c.7523_7526del ENSP00000439902.1:p.Gly2508ValfsTer15
ENST00000614259.1:n.7523_7526del
NM_000059.3:c.7523_7526del , LRG_293t1:c.7523_7526del NP_000050.2:p.Gly2508ValfsTer15
XM_011535203.1:c.7523_7526del XP_011533505.1:p.Gly2508ValfsTer15
XM_011535204.1:c.7427_7430del XP_011533506.1:p.Gly2476ValfsTer15
XM_011535205.1:c.7523_7526del XP_011533507.1:p.Gly2508ValfsTer15
NM_000059.4:c.7523_7526del MANE Select NP_000050.3:p.Gly2508ValfsTer15