Canonical Allele Identifier: CA2082830693

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396995C= , CM000675.2:g.32396995C=	GRCh38
NC_000013.10:g.32971132C= , CM000675.1:g.32971132C=	GRCh37
NC_000013.9:g.31869132C=	NCBI36
NG_012772.3:g.86516C= , LRG_293:g.86516C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9599C= MANE Select	NP_000050.3:p.Ser3200=
ENST00000380152.8:c.9599C= MANE Select	ENSP00000369497.3:p.Ser3200=
NM_000059.3:c.9599C= , LRG_293t1:c.9599C=	NP_000050.2:p.Ser3200=
ENST00000380152.7:c.9599C=	ENSP00000369497.3:p.Ser3200=
ENST00000470094.1:c.682C=
ENST00000470094.2:c.*122C=	ENSP00000434898.2:n.*122C=
ENST00000528762.2:c.*966C=	ENSP00000433168.2:n.*966C=
ENST00000530893.7:c.9230C=	ENSP00000499438.2:p.Ser3077=
ENST00000533776.1:n.187C=
ENST00000544455.5:c.9599C=	ENSP00000439902.1:p.Ser3200=
ENST00000544455.6:c.9599C=	ENSP00000439902.1:p.Ser3200=
ENST00000614259.2:c.9607C=	ENSP00000506251.1:n.9607C=
ENST00000665585.1:c.2477C=
ENST00000665585.2:c.*1161C=	ENSP00000499570.2:n.*1161C=
ENST00000680887.1:c.9599C=	ENSP00000505508.1:p.Ser3200=
ENST00000700202.1:c.2015C=	ENSP00000514856.1:p.Ser672=
ENST00000700202.2:c.9548C=	ENSP00000514856.2:p.Ser3183=
ENST00000700203.1:n.1726C=
XM_011535203.1:c.9599C=	XP_011533505.1:p.Ser3200=
XM_011535204.1:c.9503C=	XP_011533506.1:p.Ser3168=