Canonical Allele Identifier: CA387768718

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398767C>G , CM000675.2:g.32398767C>G	GRCh38
NC_000013.10:g.32972904C>G , CM000675.1:g.32972904C>G	GRCh37
NC_000013.9:g.31870904C>G	NCBI36
NG_012772.3:g.88288C>G , LRG_293:g.88288C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10254C>G MANE Select	NP_000050.3:p.Ile3418Met
ENST00000380152.8:c.10254C>G MANE Select	ENSP00000369497.3:p.Ile3418Met
NM_000059.3:c.10254C>G , LRG_293t1:c.10254C>G	NP_000050.2:p.Ile3418Met
ENST00000380152.7:c.10254C>G	ENSP00000369497.3:p.Ile3418Met
ENST00000470094.2:c.*777C>G	ENSP00000434898.2:n.*777C>G
ENST00000528762.2:c.*1621C>G	ENSP00000433168.2:n.*1621C>G
ENST00000530893.7:c.9885C>G	ENSP00000499438.2:p.Ile3295Met
ENST00000544455.5:c.10254C>G	ENSP00000439902.1:p.Ile3418Met
ENST00000544455.6:c.10254C>G	ENSP00000439902.1:p.Ile3418Met
ENST00000614259.2:c.10262C>G	ENSP00000506251.1:n.10262C>G
ENST00000665585.2:c.*1816C>G	ENSP00000499570.2:n.*1816C>G
ENST00000680887.1:c.10254C>G	ENSP00000505508.1:p.Ile3418Met
ENST00000700202.1:c.2670C>G	ENSP00000514856.1:p.Ile890Met
ENST00000700202.2:c.10203C>G	ENSP00000514856.2:p.Ile3401Met
ENST00000700203.1:n.2381C>G
XM_011535203.1:c.10254C>G	XP_011533505.1:p.Ile3418Met
XM_011535204.1:c.10158C>G	XP_011533506.1:p.Ile3386Met