Canonical Allele Identifier: CA020947

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51733
• ClinVar RCV Id: RCV000577233 ; RCV000661492
• dbSNP Id: rs397507747
• MyVariant Identifiers: chr13:g.32900391_32900392del (hg19) ; chr13:g.32326254_32326255del (hg38)
• PubMed: PMID:21939546

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326254_32326255del , CM000675.2:g.32326254_32326255del	GRCh38
NC_000013.10:g.32900391_32900392del , CM000675.1:g.32900391_32900392del	GRCh37
NC_000013.9:g.31798391_31798392del	NCBI36
NG_012772.3:g.15775_15776del , LRG_293:g.15775_15776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.488_489del	ENSP00000434898.2:p.Ser163IlefsTer19
ENST00000528762.2:c.488_489del	ENSP00000433168.2:p.Ser163IlefsTer19
ENST00000530893.7:c.119_120del	ENSP00000499438.2:p.Ser40IlefsTer19
ENST00000665585.2:c.488_489del	ENSP00000499570.2:p.Ser163IlefsTer19
ENST00000666593.2:c.488_489del	ENSP00000499256.2:p.Ser163IlefsTer19
ENST00000700202.2:c.488_489del	ENSP00000514856.2:p.Ser163IlefsTer19
ENST00000700200.1:n.359_360del
ENST00000700201.1:c.*267_*268del	ENSP00000514855.1:n.*267_*268del
ENST00000380152.8:c.488_489del MANE Select	ENSP00000369497.3:p.Ser163IlefsTer19
ENST00000544455.6:c.488_489del	ENSP00000439902.1:p.Ser163IlefsTer19
ENST00000614259.2:c.488_489del	ENSP00000506251.1:p.Ser163IlefsTer19
ENST00000680887.1:c.488_489del	ENSP00000505508.1:p.Ser163IlefsTer19
ENST00000380152.7:c.488_489del	ENSP00000369497.3:p.Ser163IlefsTer19
ENST00000530893.6:n.686_687del
ENST00000544455.5:c.488_489del	ENSP00000439902.1:p.Ser163IlefsTer19
ENST00000614259.1:n.488_489del
NM_000059.3:c.488_489del , LRG_293t1:c.488_489del	NP_000050.2:p.Ser163IlefsTer19
XM_011535203.1:c.488_489del	XP_011533505.1:p.Ser163IlefsTer19
XM_011535204.1:c.488_489del	XP_011533506.1:p.Ser163IlefsTer19
XM_011535205.1:c.488_489del	XP_011533507.1:p.Ser163IlefsTer19
NM_000059.4:c.488_489del MANE Select	NP_000050.3:p.Ser163IlefsTer19