Canonical Allele Identifier: CA025861

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52695
• ClinVar RCV Id: RCV000577269 ; RCV000661822 ; RCV002371867 ; RCV001382514
• dbSNP Id: rs397508017
• MyVariant Identifiers: chr13:g.32953589dupA (hg19) ; chr13:g.32379452dupA (hg38)
• PubMed: PMID:18006916

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379452dup , CM000675.2:g.32379452dup	GRCh38
NC_000013.10:g.32953589dup , CM000675.1:g.32953589dup	GRCh37
NC_000013.9:g.31851589dup	NCBI36
NG_012772.3:g.68973dup , LRG_293:g.68973dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8890dup	ENSP00000434898.2:p.Arg2964LysfsTer?
ENST00000528762.2:c.*257dup	ENSP00000433168.2:n.*257dup
ENST00000530893.7:c.8521dup	ENSP00000499438.2:p.Arg2841LysfsTer?
ENST00000665585.2:c.*452dup	ENSP00000499570.2:n.*452dup
ENST00000666593.2:c.8890dup	ENSP00000499256.2:p.Arg2964LysfsTer?
ENST00000700202.2:c.8890dup	ENSP00000514856.2:p.Arg2964LysfsTer?
ENST00000700202.1:c.1357dup	ENSP00000514856.1:p.Arg453LysfsTer?
ENST00000700203.1:n.1017dup
ENST00000380152.8:c.8890dup MANE Select	ENSP00000369497.3:p.Arg2964LysfsTer?
ENST00000544455.6:c.8890dup	ENSP00000439902.1:p.Arg2964LysfsTer?
ENST00000614259.2:c.8898dup	ENSP00000506251.1:n.8898dup
ENST00000665585.1:c.1768dup
ENST00000680887.1:c.8890dup	ENSP00000505508.1:p.Arg2964LysfsTer?
ENST00000380152.7:c.8890dup	ENSP00000369497.3:p.Arg2964LysfsTer?
ENST00000528762.1:c.452dup	ENSP00000433168.1:n.452dup
ENST00000544455.5:c.8890dup	ENSP00000439902.1:p.Arg2964LysfsTer?
NM_000059.3:c.8890dup , LRG_293t1:c.8890dup	NP_000050.2:p.Arg2964LysfsTer?
XM_011535203.1:c.8890dup	XP_011533505.1:p.Arg2964LysfsTer?
XM_011535204.1:c.8794dup	XP_011533506.1:p.Arg2932LysfsTer?
XM_011535205.1:c.8755-298dup	XP_011533507.1:n.8755-298dup
NM_000059.4:c.8890dup MANE Select	NP_000050.3:p.Arg2964LysfsTer?