Canonical Allele Identifier: CA915946984

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 821083
• ClinVar RCV Id: RCV001015154 ; RCV001065460 ; RCV003473575
• dbSNP Id: rs1593896605

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336664_32336668del , CM000675.2:g.32336664_32336668del	GRCh38
NC_000013.10:g.32910801_32910805del , CM000675.1:g.32910801_32910805del	GRCh37
NC_000013.9:g.31808801_31808805del	NCBI36
NG_012772.3:g.26185_26189del , LRG_293:g.26185_26189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2309_2313del	ENSP00000434898.2:p.Ile770AsnfsTer16
ENST00000528762.2:c.2309_2313del	ENSP00000433168.2:p.Ile770AsnfsTer16
ENST00000530893.7:c.1940_1944del	ENSP00000499438.2:p.Ile647AsnfsTer16
ENST00000665585.2:c.2309_2313del	ENSP00000499570.2:p.Ile770AsnfsTer16
ENST00000666593.2:c.2309_2313del	ENSP00000499256.2:p.Ile770AsnfsTer16
ENST00000700202.2:c.2309_2313del	ENSP00000514856.2:p.Ile770AsnfsTer16
ENST00000380152.8:c.2309_2313del MANE Select	ENSP00000369497.3:p.Ile770AsnfsTer16
ENST00000544455.6:c.2309_2313del	ENSP00000439902.1:p.Ile770AsnfsTer16
ENST00000614259.2:c.2309_2313del	ENSP00000506251.1:p.Ile770AsnfsTer16
ENST00000680887.1:c.2309_2313del	ENSP00000505508.1:p.Ile770AsnfsTer16
ENST00000380152.7:c.2309_2313del	ENSP00000369497.3:p.Ile770AsnfsTer16
ENST00000544455.5:c.2309_2313del	ENSP00000439902.1:p.Ile770AsnfsTer16
ENST00000614259.1:n.2309_2313del
NM_000059.3:c.2309_2313del , LRG_293t1:c.2309_2313del	NP_000050.2:p.Ile770AsnfsTer16
XM_011535203.1:c.2309_2313del	XP_011533505.1:p.Ile770AsnfsTer16
XM_011535204.1:c.2309_2313del	XP_011533506.1:p.Ile770AsnfsTer16
XM_011535205.1:c.2309_2313del	XP_011533507.1:p.Ile770AsnfsTer16
NM_000059.4:c.2309_2313del MANE Select	NP_000050.3:p.Ile770AsnfsTer16