Canonical Allele Identifier: CA012337

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 125948
• ClinVar RCV Id: RCV000112932
• dbSNP Id: rs80359288
• MyVariant Identifiers: chr13:g.32907157dupG (hg19) ; chr13:g.32907156_32907157insG (hg19) ; chr13:g.32333020dupG (hg38) ; chr13:g.32333019_32333020insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333020dup , CM000675.2:g.32333020dup	GRCh38
NC_000013.10:g.32907157dup , CM000675.1:g.32907157dup	GRCh37
NC_000013.9:g.31805157dup	NCBI36
NG_012772.3:g.22541dup , LRG_293:g.22541dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.1542dup	ENSP00000434898.2:p.Thr515AspfsTer12
ENST00000528762.2:c.1542dup	ENSP00000433168.2:p.Thr515AspfsTer12
ENST00000530893.7:c.1173dup	ENSP00000499438.2:p.Thr392AspfsTer12
ENST00000665585.2:c.1542dup	ENSP00000499570.2:p.Thr515AspfsTer12
ENST00000666593.2:c.1542dup	ENSP00000499256.2:p.Thr515AspfsTer12
ENST00000700202.2:c.1542dup	ENSP00000514856.2:p.Thr515AspfsTer12
ENST00000700201.1:c.*1321dup	ENSP00000514855.1:n.*1321dup
ENST00000380152.8:c.1542dup MANE Select	ENSP00000369497.3:p.Thr515AspfsTer12
ENST00000544455.6:c.1542dup	ENSP00000439902.1:p.Thr515AspfsTer12
ENST00000614259.2:c.1542dup	ENSP00000506251.1:p.Thr515AspfsTer12
ENST00000680887.1:c.1542dup	ENSP00000505508.1:p.Thr515AspfsTer12
ENST00000380152.7:c.1542dup	ENSP00000369497.3:p.Thr515AspfsTer12
ENST00000530893.6:n.1740dup
ENST00000544455.5:c.1542dup	ENSP00000439902.1:p.Thr515AspfsTer12
ENST00000614259.1:n.1542dup
NM_000059.3:c.1542dup , LRG_293t1:c.1542dup	NP_000050.2:p.Thr515AspfsTer12
XM_011535203.1:c.1542dup	XP_011533505.1:p.Thr515AspfsTer12
XM_011535204.1:c.1542dup	XP_011533506.1:p.Thr515AspfsTer12
XM_011535205.1:c.1542dup	XP_011533507.1:p.Thr515AspfsTer12
NM_000059.4:c.1542dup MANE Select	NP_000050.3:p.Thr515AspfsTer12