Canonical Allele Identifier: CA645509336

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 438382
• ClinVar RCV Id: RCV000505274
• dbSNP Id: rs397507990
• MyVariant Identifiers: chr13:g.32945138dup (hg19) ; chr13:g.32371001dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371001dup , CM000675.2:g.32371001dup	GRCh38
NC_000013.10:g.32945138dup , CM000675.1:g.32945138dup	GRCh37
NC_000013.9:g.31843138dup	NCBI36
NG_012772.3:g.60522dup , LRG_293:g.60522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8533dup	ENSP00000434898.2:p.Arg2845LysfsTer24
ENST00000528762.2:c.8533dup	ENSP00000433168.2:p.Arg2845LysfsTer24
ENST00000530893.7:c.8164dup	ENSP00000499438.2:p.Arg2722LysfsTer24
ENST00000665585.2:c.8533dup	ENSP00000499570.2:p.Arg2845LysfsTer24
ENST00000666593.2:c.8533dup	ENSP00000499256.2:p.Arg2845LysfsTer24
ENST00000700202.2:c.8533dup	ENSP00000514856.2:p.Arg2845LysfsTer24
ENST00000700202.1:c.1000dup	ENSP00000514856.1:p.Arg334LysfsTer24
ENST00000380152.8:c.8533dup MANE Select	ENSP00000369497.3:p.Arg2845LysfsTer24
ENST00000544455.6:c.8533dup	ENSP00000439902.1:p.Arg2845LysfsTer24
ENST00000614259.2:c.8541dup	ENSP00000506251.1:n.8541dup
ENST00000665585.1:c.1098dup
ENST00000680887.1:c.8533dup	ENSP00000505508.1:p.Arg2845LysfsTer24
ENST00000380152.7:c.8533dup	ENSP00000369497.3:p.Arg2845LysfsTer24
ENST00000528762.1:c.31dup	ENSP00000433168.1:p.Arg11LysfsTer24
ENST00000544455.5:c.8533dup	ENSP00000439902.1:p.Arg2845LysfsTer24
NM_000059.3:c.8533dup , LRG_293t1:c.8533dup	NP_000050.2:p.Arg2845LysfsTer24
XM_011535203.1:c.8533dup	XP_011533505.1:p.Arg2845LysfsTer24
XM_011535204.1:c.8437dup	XP_011533506.1:p.Arg2813LysfsTer24
XM_011535205.1:c.8533dup	XP_011533507.1:p.Arg2845LysfsTer24
NM_000059.4:c.8533dup MANE Select	NP_000050.3:p.Arg2845LysfsTer24