Canonical Allele Identifier: CA10589509

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267099
• ClinVar RCV Id: RCV000257845
• dbSNP Id: rs886040784
• MyVariant Identifiers: chr13:g.32945177del (hg19) ; chr13:g.32371040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371040del , CM000675.2:g.32371040del	GRCh38
NC_000013.10:g.32945177del , CM000675.1:g.32945177del	GRCh37
NC_000013.9:g.31843177del	NCBI36
NG_012772.3:g.60561del , LRG_293:g.60561del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8572del	ENSP00000434898.2:p.Gln2858AsnfsTer5
ENST00000528762.2:c.8572del	ENSP00000433168.2:p.Gln2858AsnfsTer5
ENST00000530893.7:c.8203del	ENSP00000499438.2:p.Gln2735AsnfsTer5
ENST00000665585.2:c.8572del	ENSP00000499570.2:p.Gln2858AsnfsTer5
ENST00000666593.2:c.8572del	ENSP00000499256.2:p.Gln2858AsnfsTer5
ENST00000700202.2:c.8572del	ENSP00000514856.2:p.Gln2858AsnfsTer5
ENST00000700202.1:c.1039del	ENSP00000514856.1:p.Gln347AsnfsTer5
ENST00000380152.8:c.8572del MANE Select	ENSP00000369497.3:p.Gln2858AsnfsTer5
ENST00000544455.6:c.8572del	ENSP00000439902.1:p.Gln2858AsnfsTer5
ENST00000614259.2:c.8580del	ENSP00000506251.1:n.8580del
ENST00000665585.1:c.1137del
ENST00000680887.1:c.8572del	ENSP00000505508.1:p.Gln2858AsnfsTer5
ENST00000380152.7:c.8572del	ENSP00000369497.3:p.Gln2858AsnfsTer5
ENST00000528762.1:c.70del	ENSP00000433168.1:p.Gln24AsnfsTer5
ENST00000544455.5:c.8572del	ENSP00000439902.1:p.Gln2858AsnfsTer5
NM_000059.3:c.8572del , LRG_293t1:c.8572del	NP_000050.2:p.Gln2858AsnfsTer5
XM_011535203.1:c.8572del	XP_011533505.1:p.Gln2858AsnfsTer5
XM_011535204.1:c.8476del	XP_011533506.1:p.Gln2826AsnfsTer5
XM_011535205.1:c.8572del	XP_011533507.1:p.Gln2858AsnfsTer5
NM_000059.4:c.8572del MANE Select	NP_000050.3:p.Gln2858AsnfsTer5