Canonical Allele Identifier: CA387768125

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398651C>G , CM000675.2:g.32398651C>G	GRCh38
NC_000013.10:g.32972788C>G , CM000675.1:g.32972788C>G	GRCh37
NC_000013.9:g.31870788C>G	NCBI36
NG_012772.3:g.88172C>G , LRG_293:g.88172C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10138C>G MANE Select	NP_000050.3:p.Leu3380Val
ENST00000380152.8:c.10138C>G MANE Select	ENSP00000369497.3:p.Leu3380Val
NM_000059.3:c.10138C>G , LRG_293t1:c.10138C>G	NP_000050.2:p.Leu3380Val
ENST00000380152.7:c.10138C>G	ENSP00000369497.3:p.Leu3380Val
ENST00000470094.2:c.*661C>G	ENSP00000434898.2:n.*661C>G
ENST00000528762.2:c.*1505C>G	ENSP00000433168.2:n.*1505C>G
ENST00000530893.7:c.9769C>G	ENSP00000499438.2:p.Leu3257Val
ENST00000544455.5:c.10138C>G	ENSP00000439902.1:p.Leu3380Val
ENST00000544455.6:c.10138C>G	ENSP00000439902.1:p.Leu3380Val
ENST00000614259.2:c.10146C>G	ENSP00000506251.1:n.10146C>G
ENST00000665585.2:c.*1700C>G	ENSP00000499570.2:n.*1700C>G
ENST00000680887.1:c.10138C>G	ENSP00000505508.1:p.Leu3380Val
ENST00000700202.1:c.2554C>G	ENSP00000514856.1:p.Leu852Val
ENST00000700202.2:c.10087C>G	ENSP00000514856.2:p.Leu3363Val
ENST00000700203.1:n.2265C>G
XM_011535203.1:c.10138C>G	XP_011533505.1:p.Leu3380Val
XM_011535204.1:c.10042C>G	XP_011533506.1:p.Leu3348Val