Canonical Allele Identifier: CA2695217928
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394714_32394829del , CM000675.2:g.32394714_32394829del GRCh38
NC_000013.10:g.32968851_32968966del , CM000675.1:g.32968851_32968966del GRCh37
NC_000013.9:g.31866851_31866966del NCBI36
NG_012772.3:g.84235_84350del , LRG_293:g.84235_84350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9282_9397del ENSP00000434898.2:p.Asp3095ArgfsTer16
ENST00000528762.2:c.*649_*764del ENSP00000433168.2:n.*649_*764del
ENST00000530893.7:c.8913_9028del ENSP00000499438.2:p.Asp2972ArgfsTer16
ENST00000665585.2:c.*844_*959del ENSP00000499570.2:n.*844_*959del
ENST00000666593.2:c.*127_*242del ENSP00000499256.2:n.*127_*242del
ENST00000700202.2:c.9231_9346del ENSP00000514856.2:p.Asp3078ArgfsTer16
ENST00000700202.1:c.1698_1813del ENSP00000514856.1:p.Asp567ArgfsTer16
ENST00000700203.1:n.1409_1524del
ENST00000380152.8:c.9282_9397del MANE Select ENSP00000369497.3:p.Asp3095ArgfsTer16
ENST00000544455.6:c.9282_9397del ENSP00000439902.1:p.Asp3095ArgfsTer16
ENST00000614259.2:c.9290_9405del ENSP00000506251.1:n.9290_9405del
ENST00000665585.1:c.2160_2275del
ENST00000666593.1:c.304_419del ENSP00000499256.1:n.304_419del
ENST00000680887.1:c.9282_9397del ENSP00000505508.1:p.Asp3095ArgfsTer16
ENST00000380152.7:c.9282_9397del ENSP00000369497.3:p.Asp3095ArgfsTer16
ENST00000470094.1:c.239_354del
ENST00000544455.5:c.9282_9397del ENSP00000439902.1:p.Asp3095ArgfsTer16
NM_000059.3:c.9282_9397del , LRG_293t1:c.9282_9397del NP_000050.2:p.Asp3095ArgfsTer16
XM_011535203.1:c.9282_9397del XP_011533505.1:p.Asp3095ArgfsTer16
XM_011535204.1:c.9186_9301del XP_011533506.1:p.Asp3063ArgfsTer16
NM_000059.4:c.9282_9397del MANE Select NP_000050.3:p.Asp3095ArgfsTer16