Canonical Allele Identifier: CA6941417

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32397010C>T , CM000675.2:g.32397010C>T	GRCh38
NC_000013.10:g.32971147C>T , CM000675.1:g.32971147C>T	GRCh37
NC_000013.9:g.31869147C>T	NCBI36
NG_012772.3:g.86531C>T , LRG_293:g.86531C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9614C>T MANE Select	NP_000050.3:p.Ala3205Val
ENST00000380152.8:c.9614C>T MANE Select	ENSP00000369497.3:p.Ala3205Val
NM_000059.3:c.9614C>T , LRG_293t1:c.9614C>T	NP_000050.2:p.Ala3205Val
ENST00000380152.7:c.9614C>T	ENSP00000369497.3:p.Ala3205Val
ENST00000470094.1:c.697C>T
ENST00000470094.2:c.*137C>T	ENSP00000434898.2:n.*137C>T
ENST00000528762.2:c.*981C>T	ENSP00000433168.2:n.*981C>T
ENST00000530893.7:c.9245C>T	ENSP00000499438.2:p.Ala3082Val
ENST00000533776.1:n.202C>T
ENST00000544455.5:c.9614C>T	ENSP00000439902.1:p.Ala3205Val
ENST00000544455.6:c.9614C>T	ENSP00000439902.1:p.Ala3205Val
ENST00000614259.2:c.9622C>T	ENSP00000506251.1:n.9622C>T
ENST00000665585.1:c.2492C>T
ENST00000665585.2:c.*1176C>T	ENSP00000499570.2:n.*1176C>T
ENST00000680887.1:c.9614C>T	ENSP00000505508.1:p.Ala3205Val
ENST00000700202.1:c.2030C>T	ENSP00000514856.1:p.Ala677Val
ENST00000700202.2:c.9563C>T	ENSP00000514856.2:p.Ala3188Val
ENST00000700203.1:n.1741C>T
XM_011535203.1:c.9614C>T	XP_011533505.1:p.Ala3205Val
XM_011535204.1:c.9518C>T	XP_011533506.1:p.Ala3173Val