Canonical Allele Identifier: CA024828

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52262
• ClinVar RCV Id: RCV000577179 ; RCV000661709
• dbSNP Id: rs397507894
• MyVariant Identifiers: chr13:g.32929057_32929058del (hg19) ; chr13:g.32354920_32354921del (hg38)
• PubMed: PMID:20104584

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32354920_32354921del , CM000675.2:g.32354920_32354921del	GRCh38
NC_000013.10:g.32929057_32929058del , CM000675.1:g.32929057_32929058del	GRCh37
NC_000013.9:g.31827057_31827058del	NCBI36
NG_012772.3:g.44441_44442del , LRG_293:g.44441_44442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7067_7068del	ENSP00000434898.2:p.Phe2356SerfsTer3
ENST00000528762.2:c.7067_7068del	ENSP00000433168.2:p.Phe2356SerfsTer3
ENST00000530893.7:c.6698_6699del	ENSP00000499438.2:p.Phe2233SerfsTer3
ENST00000665585.2:c.7067_7068del	ENSP00000499570.2:p.Phe2356SerfsTer3
ENST00000666593.2:c.7067_7068del	ENSP00000499256.2:p.Phe2356SerfsTer3
ENST00000700202.2:c.7067_7068del	ENSP00000514856.2:p.Phe2356SerfsTer3
ENST00000380152.8:c.7067_7068del MANE Select	ENSP00000369497.3:p.Phe2356SerfsTer3
ENST00000544455.6:c.7067_7068del	ENSP00000439902.1:p.Phe2356SerfsTer3
ENST00000614259.2:c.7067_7068del	ENSP00000506251.1:p.Phe2356SerfsTer3
ENST00000680887.1:c.7067_7068del	ENSP00000505508.1:p.Phe2356SerfsTer3
ENST00000380152.7:c.7067_7068del	ENSP00000369497.3:p.Phe2356SerfsTer3
ENST00000544455.5:c.7067_7068del	ENSP00000439902.1:p.Phe2356SerfsTer3
ENST00000614259.1:n.7067_7068del
NM_000059.3:c.7067_7068del , LRG_293t1:c.7067_7068del	NP_000050.2:p.Phe2356SerfsTer3
XM_011535203.1:c.7067_7068del	XP_011533505.1:p.Phe2356SerfsTer3
XM_011535204.1:c.6971_6972del	XP_011533506.1:p.Phe2324SerfsTer3
XM_011535205.1:c.7067_7068del	XP_011533507.1:p.Phe2356SerfsTer3
NM_000059.4:c.7067_7068del MANE Select	NP_000050.3:p.Phe2356SerfsTer3