Canonical Allele Identifier: CA387757561

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379857G>T , CM000675.2:g.32379857G>T	GRCh38
NC_000013.10:g.32953994G>T , CM000675.1:g.32953994G>T	GRCh37
NC_000013.9:g.31851994G>T	NCBI36
NG_012772.3:g.69378G>T , LRG_293:g.69378G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9061G>T MANE Select	NP_000050.3:p.Glu3021Ter
ENST00000380152.8:c.9061G>T MANE Select	ENSP00000369497.3:p.Glu3021Ter
NM_000059.3:c.9061G>T , LRG_293t1:c.9061G>T	NP_000050.2:p.Glu3021Ter
ENST00000380152.7:c.9061G>T	ENSP00000369497.3:p.Glu3021Ter
ENST00000470094.1:c.18G>T
ENST00000470094.2:c.9061G>T	ENSP00000434898.2:p.Glu3021Ter
ENST00000528762.2:c.*428G>T	ENSP00000433168.2:n.*428G>T
ENST00000530893.7:c.8692G>T	ENSP00000499438.2:p.Glu2898Ter
ENST00000544455.5:c.9061G>T	ENSP00000439902.1:p.Glu3021Ter
ENST00000544455.6:c.9061G>T	ENSP00000439902.1:p.Glu3021Ter
ENST00000614259.2:c.9069G>T	ENSP00000506251.1:n.9069G>T
ENST00000665585.1:c.1939G>T
ENST00000665585.2:c.*623G>T	ENSP00000499570.2:n.*623G>T
ENST00000666593.2:c.9061G>T	ENSP00000499256.2:p.Glu3021Ter
ENST00000680887.1:c.9061G>T	ENSP00000505508.1:p.Glu3021Ter
ENST00000700202.1:c.1477G>T	ENSP00000514856.1:p.Glu493Ter
ENST00000700202.2:c.9010G>T	ENSP00000514856.2:p.Glu3004Ter
ENST00000700203.1:n.1188G>T
XM_011535203.1:c.9061G>T	XP_011533505.1:p.Glu3021Ter
XM_011535204.1:c.8965G>T	XP_011533506.1:p.Glu2989Ter