Canonical Allele Identifier: CA019430

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126036
• ClinVar RCV Id: RCV000113267
• dbSNP Id: rs80359422
• MyVariant Identifiers: chr13:g.32912540dupC (hg19) ; chr13:g.32338403dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338403dup , CM000675.2:g.32338403dup	GRCh38
NC_000013.10:g.32912540dup , CM000675.1:g.32912540dup	GRCh37
NC_000013.9:g.31810540dup	NCBI36
NG_012772.3:g.27924dup , LRG_293:g.27924dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4048dup	ENSP00000434898.2:p.His1350ProfsTer2
ENST00000528762.2:c.4048dup	ENSP00000433168.2:p.His1350ProfsTer2
ENST00000530893.7:c.3679dup	ENSP00000499438.2:p.His1227ProfsTer2
ENST00000665585.2:c.4048dup	ENSP00000499570.2:p.His1350ProfsTer2
ENST00000666593.2:c.4048dup	ENSP00000499256.2:p.His1350ProfsTer2
ENST00000700202.2:c.4048dup	ENSP00000514856.2:p.His1350ProfsTer2
ENST00000380152.8:c.4048dup MANE Select	ENSP00000369497.3:p.His1350ProfsTer2
ENST00000544455.6:c.4048dup	ENSP00000439902.1:p.His1350ProfsTer2
ENST00000614259.2:c.4048dup	ENSP00000506251.1:p.His1350ProfsTer2
ENST00000680887.1:c.4048dup	ENSP00000505508.1:p.His1350ProfsTer2
ENST00000380152.7:c.4048dup	ENSP00000369497.3:p.His1350ProfsTer2
ENST00000544455.5:c.4048dup	ENSP00000439902.1:p.His1350ProfsTer2
ENST00000614259.1:n.4048dup
NM_000059.3:c.4048dup , LRG_293t1:c.4048dup	NP_000050.2:p.His1350ProfsTer2
XM_011535203.1:c.4048dup	XP_011533505.1:p.His1350ProfsTer2
XM_011535204.1:c.4048dup	XP_011533506.1:p.His1350ProfsTer2
XM_011535205.1:c.4048dup	XP_011533507.1:p.His1350ProfsTer2
NM_000059.4:c.4048dup MANE Select	NP_000050.3:p.His1350ProfsTer2