Canonical Allele Identifier: CA3273066123

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379392_32379394delinsTTT , CM000675.2:g.32379392_32379394delinsTTT	GRCh38
NC_000013.10:g.32953529_32953531delinsTTT , CM000675.1:g.32953529_32953531delinsTTT	GRCh37
NC_000013.9:g.31851529_31851531delinsTTT	NCBI36
NG_012772.3:g.68913_68915delinsTTT , LRG_293:g.68913_68915delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.8830_8832delinsTTT MANE Select	NP_000050.3:p.Ile2944Phe
ENST00000380152.8:c.8830_8832delinsTTT MANE Select	ENSP00000369497.3:p.Ile2944Phe
NM_000059.3:c.8830_8832delinsTTT , LRG_293t1:c.8830_8832delinsTTT	NP_000050.2:p.Ile2944Phe
ENST00000380152.7:c.8830_8832delinsTTT	ENSP00000369497.3:p.Ile2944Phe
ENST00000470094.2:c.8830_8832delinsTTT	ENSP00000434898.2:p.Ile2944Phe
ENST00000528762.1:c.392_394delinsTTT	ENSP00000433168.1:n.392_394delinsTTT
ENST00000528762.2:c.*197_*199delinsTTT	ENSP00000433168.2:n.*197_*199delinsTTT
ENST00000530893.7:c.8461_8463delinsTTT	ENSP00000499438.2:p.Ile2821Phe
ENST00000544455.5:c.8830_8832delinsTTT	ENSP00000439902.1:p.Ile2944Phe
ENST00000544455.6:c.8830_8832delinsTTT	ENSP00000439902.1:p.Ile2944Phe
ENST00000614259.2:c.8838_8840delinsTTT	ENSP00000506251.1:n.8838_8840delinsTTT
ENST00000665585.1:c.1708_1710delinsTTT
ENST00000665585.2:c.*392_*394delinsTTT	ENSP00000499570.2:n.*392_*394delinsTTT
ENST00000666593.2:c.8830_8832delinsTTT	ENSP00000499256.2:p.Ile2944Phe
ENST00000680887.1:c.8830_8832delinsTTT	ENSP00000505508.1:p.Ile2944Phe
ENST00000700202.1:c.1297_1299delinsTTT	ENSP00000514856.1:p.Ile433Phe
ENST00000700202.2:c.8830_8832delinsTTT	ENSP00000514856.2:p.Ile2944Phe
ENST00000700203.1:n.957_959delinsTTT
XM_011535203.1:c.8830_8832delinsTTT	XP_011533505.1:p.Ile2944Phe
XM_011535204.1:c.8734_8736delinsTTT	XP_011533506.1:p.Ile2912Phe
XM_011535205.1:c.8755-358_8755-356delinsTTT	XP_011533507.1:n.8755-358_8755-356delinsTTT