Canonical Allele Identifier: CA387761047

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394772A>T , CM000675.2:g.32394772A>T	GRCh38
NC_000013.10:g.32968909A>T , CM000675.1:g.32968909A>T	GRCh37
NC_000013.9:g.31866909A>T	NCBI36
NG_012772.3:g.84293A>T , LRG_293:g.84293A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9340A>T MANE Select	NP_000050.3:p.Ile3114Phe
ENST00000380152.8:c.9340A>T MANE Select	ENSP00000369497.3:p.Ile3114Phe
NM_000059.3:c.9340A>T , LRG_293t1:c.9340A>T	NP_000050.2:p.Ile3114Phe
ENST00000380152.7:c.9340A>T	ENSP00000369497.3:p.Ile3114Phe
ENST00000470094.1:c.297A>T
ENST00000470094.2:c.9340A>T	ENSP00000434898.2:p.Ile3114Phe
ENST00000528762.2:c.*707A>T	ENSP00000433168.2:n.*707A>T
ENST00000530893.7:c.8971A>T	ENSP00000499438.2:p.Ile2991Phe
ENST00000544455.5:c.9340A>T	ENSP00000439902.1:p.Ile3114Phe
ENST00000544455.6:c.9340A>T	ENSP00000439902.1:p.Ile3114Phe
ENST00000614259.2:c.9348A>T	ENSP00000506251.1:n.9348A>T
ENST00000665585.1:c.2218A>T
ENST00000665585.2:c.*902A>T	ENSP00000499570.2:n.*902A>T
ENST00000666593.1:c.362A>T	ENSP00000499256.1:n.362A>T
ENST00000666593.2:c.*185A>T	ENSP00000499256.2:n.*185A>T
ENST00000680887.1:c.9340A>T	ENSP00000505508.1:p.Ile3114Phe
ENST00000700202.1:c.1756A>T	ENSP00000514856.1:p.Ile586Phe
ENST00000700202.2:c.9289A>T	ENSP00000514856.2:p.Ile3097Phe
ENST00000700203.1:n.1467A>T
XM_011535203.1:c.9340A>T	XP_011533505.1:p.Ile3114Phe
XM_011535204.1:c.9244A>T	XP_011533506.1:p.Ile3082Phe