Canonical Allele Identifier: CA10589464

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267050
• ClinVar RCV Id: RCV000256831 ; RCV000482911 ; RCV000563722
• dbSNP Id: rs397507952
• gnomAD v4: 13-32363217-T-TA
• COSMIC: COSM2071519 ; COSM2071520
• MyVariant Identifiers: chr13:g.32937360dupA (hg19) ; chr13:g.32363223dupA (hg38)
• PubMed: PMID:26787237

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363223dup , CM000675.2:g.32363223dup	GRCh38
NC_000013.10:g.32937360dup , CM000675.1:g.32937360dup	GRCh37
NC_000013.9:g.31835360dup	NCBI36
NG_012772.3:g.52744dup , LRG_293:g.52744dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8021dup	ENSP00000434898.2:p.Ile2675AspfsTer6
ENST00000528762.2:c.8021dup	ENSP00000433168.2:p.Ile2675AspfsTer6
ENST00000530893.7:c.7652dup	ENSP00000499438.2:p.Ile2552AspfsTer6
ENST00000665585.2:c.8021dup	ENSP00000499570.2:p.Ile2675AspfsTer6
ENST00000666593.2:c.8021dup	ENSP00000499256.2:p.Ile2675AspfsTer6
ENST00000700202.2:c.8021dup	ENSP00000514856.2:p.Ile2675AspfsTer6
ENST00000700202.1:c.488dup	ENSP00000514856.1:p.Ile164AspfsTer6
ENST00000380152.8:c.8021dup MANE Select	ENSP00000369497.3:p.Ile2675AspfsTer6
ENST00000544455.6:c.8021dup	ENSP00000439902.1:p.Ile2675AspfsTer6
ENST00000614259.2:c.8029dup	ENSP00000506251.1:n.8029dup
ENST00000665585.1:c.586dup
ENST00000680887.1:c.8021dup	ENSP00000505508.1:p.Ile2675AspfsTer6
ENST00000380152.7:c.8021dup	ENSP00000369497.3:p.Ile2675AspfsTer6
ENST00000544455.5:c.8021dup	ENSP00000439902.1:p.Ile2675AspfsTer6
NM_000059.3:c.8021dup , LRG_293t1:c.8021dup	NP_000050.2:p.Ile2675AspfsTer6
XM_011535203.1:c.8021dup	XP_011533505.1:p.Ile2675AspfsTer6
XM_011535204.1:c.7925dup	XP_011533506.1:p.Ile2643AspfsTer6
XM_011535205.1:c.8021dup	XP_011533507.1:p.Ile2675AspfsTer6
NM_000059.4:c.8021dup MANE Select	NP_000050.3:p.Ile2675AspfsTer6