Canonical Allele Identifier: CA025867

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52699
• ClinVar RCV Id: RCV000577290 ; RCV000661872
• dbSNP Id: rs80359731
• MyVariant Identifiers: chr13:g.32953611dupA (hg19) ; chr13:g.32379474dupA (hg38)
• PubMed: PMID:19329713

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379474dup , CM000675.2:g.32379474dup	GRCh38
NC_000013.10:g.32953611dup , CM000675.1:g.32953611dup	GRCh37
NC_000013.9:g.31851611dup	NCBI36
NG_012772.3:g.68995dup , LRG_293:g.68995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8912dup	ENSP00000434898.2:p.Leu2972ValfsTer?
ENST00000528762.2:c.*279dup	ENSP00000433168.2:n.*279dup
ENST00000530893.7:c.8543dup	ENSP00000499438.2:p.Leu2849ValfsTer?
ENST00000665585.2:c.*474dup	ENSP00000499570.2:n.*474dup
ENST00000666593.2:c.8912dup	ENSP00000499256.2:p.Leu2972ValfsTer?
ENST00000700202.2:c.8912dup	ENSP00000514856.2:p.Leu2972ValfsTer29
ENST00000700202.1:c.1379dup	ENSP00000514856.1:p.Leu461ValfsTer29
ENST00000700203.1:n.1039dup
ENST00000380152.8:c.8912dup MANE Select	ENSP00000369497.3:p.Leu2972ValfsTer?
ENST00000544455.6:c.8912dup	ENSP00000439902.1:p.Leu2972ValfsTer?
ENST00000614259.2:c.8920dup	ENSP00000506251.1:n.8920dup
ENST00000665585.1:c.1790dup
ENST00000680887.1:c.8912dup	ENSP00000505508.1:p.Leu2972ValfsTer?
ENST00000380152.7:c.8912dup	ENSP00000369497.3:p.Leu2972ValfsTer?
ENST00000528762.1:c.474dup	ENSP00000433168.1:n.474dup
ENST00000544455.5:c.8912dup	ENSP00000439902.1:p.Leu2972ValfsTer?
NM_000059.3:c.8912dup , LRG_293t1:c.8912dup	NP_000050.2:p.Leu2972ValfsTer?
XM_011535203.1:c.8912dup	XP_011533505.1:p.Leu2972ValfsTer?
XM_011535204.1:c.8816dup	XP_011533506.1:p.Leu2940ValfsTer?
XM_011535205.1:c.8755-276dup	XP_011533507.1:n.8755-276dup
NM_000059.4:c.8912dup MANE Select	NP_000050.3:p.Leu2972ValfsTer?