Canonical Allele Identifier: CA2018046973

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398747A= , CM000675.2:g.32398747A=	GRCh38
NC_000013.10:g.32972884A= , CM000675.1:g.32972884A=	GRCh37
NC_000013.9:g.31870884A=	NCBI36
NG_012772.3:g.88268A= , LRG_293:g.88268A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10234A= MANE Select	NP_000050.3:p.Ile3412=
ENST00000380152.8:c.10234A= MANE Select	ENSP00000369497.3:p.Ile3412=
NM_000059.3:c.10234A= , LRG_293t1:c.10234A=	NP_000050.2:p.Ile3412=
ENST00000380152.7:c.10234A=	ENSP00000369497.3:p.Ile3412=
ENST00000470094.2:c.*757A=	ENSP00000434898.2:n.*757A=
ENST00000528762.2:c.*1601A=	ENSP00000433168.2:n.*1601A=
ENST00000530893.7:c.9865A=	ENSP00000499438.2:p.Ile3289=
ENST00000544455.5:c.10234A=	ENSP00000439902.1:p.Ile3412=
ENST00000544455.6:c.10234A=	ENSP00000439902.1:p.Ile3412=
ENST00000614259.2:c.10242A=	ENSP00000506251.1:n.10242A=
ENST00000665585.2:c.*1796A=	ENSP00000499570.2:n.*1796A=
ENST00000680887.1:c.10234A=	ENSP00000505508.1:p.Ile3412=
ENST00000700202.1:c.2650A=	ENSP00000514856.1:p.Ile884=
ENST00000700202.2:c.10183A=	ENSP00000514856.2:p.Ile3395=
ENST00000700203.1:n.2361A=
XM_011535203.1:c.10234A=	XP_011533505.1:p.Ile3412=
XM_011535204.1:c.10138A=	XP_011533506.1:p.Ile3380=