Canonical Allele Identifier: CA2697551747

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2756065
• ClinVar RCV Id: RCV003531262

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370552dup , CM000675.2:g.32370552dup	GRCh38
NC_000013.10:g.32944689dup , CM000675.1:g.32944689dup	GRCh37
NC_000013.9:g.31842689dup	NCBI36
NG_012772.3:g.60073dup , LRG_293:g.60073dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8482dup	ENSP00000434898.2:p.Ile2828AsnfsTer17
ENST00000528762.2:c.8482dup	ENSP00000433168.2:p.Ile2828AsnfsTer17
ENST00000530893.7:c.8113dup	ENSP00000499438.2:p.Ile2705AsnfsTer17
ENST00000665585.2:c.8482dup	ENSP00000499570.2:p.Ile2828AsnfsTer17
ENST00000666593.2:c.8482dup	ENSP00000499256.2:p.Ile2828AsnfsTer17
ENST00000700202.2:c.8482dup	ENSP00000514856.2:p.Ile2828AsnfsTer17
ENST00000700202.1:c.949dup	ENSP00000514856.1:p.Ile317AsnfsTer17
ENST00000380152.8:c.8482dup MANE Select	ENSP00000369497.3:p.Ile2828AsnfsTer17
ENST00000544455.6:c.8482dup	ENSP00000439902.1:p.Ile2828AsnfsTer17
ENST00000614259.2:c.8490dup	ENSP00000506251.1:n.8490dup
ENST00000665585.1:c.1047dup
ENST00000680887.1:c.8482dup	ENSP00000505508.1:p.Ile2828AsnfsTer17
ENST00000380152.7:c.8482dup	ENSP00000369497.3:p.Ile2828AsnfsTer17
ENST00000544455.5:c.8482dup	ENSP00000439902.1:p.Ile2828AsnfsTer17
NM_000059.3:c.8482dup , LRG_293t1:c.8482dup	NP_000050.2:p.Ile2828AsnfsTer17
XM_011535203.1:c.8482dup	XP_011533505.1:p.Ile2828AsnfsTer17
XM_011535204.1:c.8386dup	XP_011533506.1:p.Ile2796AsnfsTer17
XM_011535205.1:c.8482dup	XP_011533507.1:p.Ile2828AsnfsTer17
NM_000059.4:c.8482dup MANE Select	NP_000050.3:p.Ile2828AsnfsTer17