Canonical Allele Identifier: CA387756706

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32325159C>A , CM000675.2:g.32325159C>A	GRCh38
NC_000013.10:g.32899296C>A , CM000675.1:g.32899296C>A	GRCh37
NC_000013.9:g.31797296C>A	NCBI36
NG_012772.3:g.14680C>A , LRG_293:g.14680C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.400C>A MANE Select	NP_000050.3:p.Leu134Ile
ENST00000380152.8:c.400C>A MANE Select	ENSP00000369497.3:p.Leu134Ile
NM_000059.3:c.400C>A , LRG_293t1:c.400C>A	NP_000050.2:p.Leu134Ile
ENST00000380152.7:c.400C>A	ENSP00000369497.3:p.Leu134Ile
ENST00000470094.2:c.400C>A	ENSP00000434898.2:p.Leu134Ile
ENST00000528762.2:c.400C>A	ENSP00000433168.2:p.Leu134Ile
ENST00000530893.6:n.598C>A
ENST00000530893.7:c.31C>A	ENSP00000499438.2:p.Leu11Ile
ENST00000544455.5:c.400C>A	ENSP00000439902.1:p.Leu134Ile
ENST00000544455.6:c.400C>A	ENSP00000439902.1:p.Leu134Ile
ENST00000614259.1:n.400C>A
ENST00000614259.2:c.400C>A	ENSP00000506251.1:p.Leu134Ile
ENST00000665585.2:c.400C>A	ENSP00000499570.2:p.Leu134Ile
ENST00000666593.2:c.400C>A	ENSP00000499256.2:p.Leu134Ile
ENST00000680887.1:c.400C>A	ENSP00000505508.1:p.Leu134Ile
ENST00000700200.1:n.271C>A
ENST00000700201.1:c.*179C>A	ENSP00000514855.1:n.*179C>A
ENST00000700202.2:c.400C>A	ENSP00000514856.2:p.Leu134Ile
XM_011535203.1:c.400C>A	XP_011533505.1:p.Leu134Ile
XM_011535204.1:c.400C>A	XP_011533506.1:p.Leu134Ile
XM_011535205.1:c.400C>A	XP_011533507.1:p.Leu134Ile