Canonical Allele Identifier: CA645372940

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 433816
• ClinVar RCV Id: RCV001857062
• dbSNP Id: rs1555286298
• gnomAD v4: 13-32356571-G-GT
• MyVariant Identifiers: chr13:g.32930709dup (hg19) ; chr13:g.32356572dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356572dup , CM000675.2:g.32356572dup	GRCh38
NC_000013.10:g.32930709dup , CM000675.1:g.32930709dup	GRCh37
NC_000013.9:g.31828709dup	NCBI36
NG_012772.3:g.46093dup , LRG_293:g.46093dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7580dup	ENSP00000434898.2:p.Gly2528ArgfsTer11
ENST00000528762.2:c.7580dup	ENSP00000433168.2:p.Gly2528ArgfsTer11
ENST00000530893.7:c.7211dup	ENSP00000499438.2:p.Gly2405ArgfsTer11
ENST00000665585.2:c.7580dup	ENSP00000499570.2:p.Gly2528ArgfsTer11
ENST00000666593.2:c.7580dup	ENSP00000499256.2:p.Gly2528ArgfsTer11
ENST00000700202.2:c.7580dup	ENSP00000514856.2:p.Gly2528ArgfsTer11
ENST00000700202.1:c.47dup	ENSP00000514856.1:p.Gly17ArgfsTer11
ENST00000380152.8:c.7580dup MANE Select	ENSP00000369497.3:p.Gly2528ArgfsTer11
ENST00000544455.6:c.7580dup	ENSP00000439902.1:p.Gly2528ArgfsTer11
ENST00000614259.2:c.7580dup	ENSP00000506251.1:p.Gly2528ArgfsTer11
ENST00000665585.1:c.145dup
ENST00000680887.1:c.7580dup	ENSP00000505508.1:p.Gly2528ArgfsTer11
ENST00000380152.7:c.7580dup	ENSP00000369497.3:p.Gly2528ArgfsTer11
ENST00000544455.5:c.7580dup	ENSP00000439902.1:p.Gly2528ArgfsTer11
ENST00000614259.1:n.7580dup
NM_000059.3:c.7580dup , LRG_293t1:c.7580dup	NP_000050.2:p.Gly2528ArgfsTer11
XM_011535203.1:c.7580dup	XP_011533505.1:p.Gly2528ArgfsTer11
XM_011535204.1:c.7484dup	XP_011533506.1:p.Gly2496ArgfsTer11
XM_011535205.1:c.7580dup	XP_011533507.1:p.Gly2528ArgfsTer11
NM_000059.4:c.7580dup MANE Select	NP_000050.3:p.Gly2528ArgfsTer11