Canonical Allele Identifier: CA025102

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52338
• ClinVar RCV Id: RCV000241467 ; RCV000503965
• dbSNP Id: rs397507918
• MyVariant Identifiers: chr13:g.32930596dupT (hg19) ; chr13:g.32356459dupT (hg38)
• PubMed: PMID:19353265

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356459dup , CM000675.2:g.32356459dup	GRCh38
NC_000013.10:g.32930596dup , CM000675.1:g.32930596dup	GRCh37
NC_000013.9:g.31828596dup	NCBI36
NG_012772.3:g.45980dup , LRG_293:g.45980dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7467dup	ENSP00000434898.2:p.Ile2490TyrfsTer7
ENST00000528762.2:c.7467dup	ENSP00000433168.2:p.Ile2490TyrfsTer7
ENST00000530893.7:c.7098dup	ENSP00000499438.2:p.Ile2367TyrfsTer7
ENST00000665585.2:c.7467dup	ENSP00000499570.2:p.Ile2490TyrfsTer7
ENST00000666593.2:c.7467dup	ENSP00000499256.2:p.Ile2490TyrfsTer7
ENST00000700202.2:c.7467dup	ENSP00000514856.2:p.Ile2490TyrfsTer7
ENST00000380152.8:c.7467dup MANE Select	ENSP00000369497.3:p.Ile2490TyrfsTer7
ENST00000544455.6:c.7467dup	ENSP00000439902.1:p.Ile2490TyrfsTer7
ENST00000614259.2:c.7467dup	ENSP00000506251.1:p.Ile2490TyrfsTer7
ENST00000665585.1:c.32dup
ENST00000680887.1:c.7467dup	ENSP00000505508.1:p.Ile2490TyrfsTer7
ENST00000380152.7:c.7467dup	ENSP00000369497.3:p.Ile2490TyrfsTer7
ENST00000544455.5:c.7467dup	ENSP00000439902.1:p.Ile2490TyrfsTer7
ENST00000614259.1:n.7467dup
NM_000059.3:c.7467dup , LRG_293t1:c.7467dup	NP_000050.2:p.Ile2490TyrfsTer7
XM_011535203.1:c.7467dup	XP_011533505.1:p.Ile2490TyrfsTer7
XM_011535204.1:c.7371dup	XP_011533506.1:p.Ile2458TyrfsTer7
XM_011535205.1:c.7467dup	XP_011533507.1:p.Ile2490TyrfsTer7
NM_000059.4:c.7467dup MANE Select	NP_000050.3:p.Ile2490TyrfsTer7