Canonical Allele Identifier: CA387765158

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398180G>T , CM000675.2:g.32398180G>T	GRCh38
NC_000013.10:g.32972317G>T , CM000675.1:g.32972317G>T	GRCh37
NC_000013.9:g.31870317G>T	NCBI36
NG_012772.3:g.87701G>T , LRG_293:g.87701G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9667G>T MANE Select	NP_000050.3:p.Glu3223Ter
ENST00000380152.8:c.9667G>T MANE Select	ENSP00000369497.3:p.Glu3223Ter
NM_000059.3:c.9667G>T , LRG_293t1:c.9667G>T	NP_000050.2:p.Glu3223Ter
ENST00000380152.7:c.9667G>T	ENSP00000369497.3:p.Glu3223Ter
ENST00000470094.1:c.750G>T
ENST00000470094.2:c.*190G>T	ENSP00000434898.2:n.*190G>T
ENST00000528762.2:c.*1034G>T	ENSP00000433168.2:n.*1034G>T
ENST00000530893.7:c.9298G>T	ENSP00000499438.2:p.Glu3100Ter
ENST00000533776.1:n.255G>T
ENST00000544455.5:c.9667G>T	ENSP00000439902.1:p.Glu3223Ter
ENST00000544455.6:c.9667G>T	ENSP00000439902.1:p.Glu3223Ter
ENST00000614259.2:c.9675G>T	ENSP00000506251.1:n.9675G>T
ENST00000665585.1:c.2545G>T
ENST00000665585.2:c.*1229G>T	ENSP00000499570.2:n.*1229G>T
ENST00000680887.1:c.9667G>T	ENSP00000505508.1:p.Glu3223Ter
ENST00000700202.1:c.2083G>T	ENSP00000514856.1:p.Glu695Ter
ENST00000700202.2:c.9616G>T	ENSP00000514856.2:p.Glu3206Ter
ENST00000700203.1:n.1794G>T
XM_011535203.1:c.9667G>T	XP_011533505.1:p.Glu3223Ter
XM_011535204.1:c.9571G>T	XP_011533506.1:p.Glu3191Ter