Canonical Allele Identifier: CA025724

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182323
• ClinVar RCV Id: RCV000160309 ; RCV000164688 ; RCV000474733 ; RCV000588220
• dbSNP Id: rs730881616
• gnomAD v4: 13-32371053-T-TAGA
• MyVariant Identifiers: chr13:g.32945193_32945195dupAAG (hg19) ; chr13:g.32371056_32371058dupAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371056_32371058dup , CM000675.2:g.32371056_32371058dup	GRCh38
NC_000013.10:g.32945193_32945195dup , CM000675.1:g.32945193_32945195dup	GRCh37
NC_000013.9:g.31843193_31843195dup	NCBI36
NG_012772.3:g.60577_60579dup , LRG_293:g.60577_60579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8588_8590dup	ENSP00000434898.2:p.Glu2863_Ala2864insGlu
ENST00000528762.2:c.8588_8590dup	ENSP00000433168.2:p.Glu2863_Ala2864insGlu
ENST00000530893.7:c.8219_8221dup	ENSP00000499438.2:p.Glu2740_Ala2741insGlu
ENST00000665585.2:c.8588_8590dup	ENSP00000499570.2:p.Glu2863_Ala2864insGlu
ENST00000666593.2:c.8588_8590dup	ENSP00000499256.2:p.Glu2863_Ala2864insGlu
ENST00000700202.2:c.8588_8590dup	ENSP00000514856.2:p.Glu2863_Ala2864insGlu
ENST00000700202.1:c.1055_1057dup	ENSP00000514856.1:p.Glu352_Ala353insGlu
ENST00000380152.8:c.8588_8590dup MANE Select	ENSP00000369497.3:p.Glu2863_Ala2864insGlu
ENST00000544455.6:c.8588_8590dup	ENSP00000439902.1:p.Glu2863_Ala2864insGlu
ENST00000614259.2:c.8596_8598dup	ENSP00000506251.1:n.8596_8598dup
ENST00000665585.1:c.1153_1155dup
ENST00000680887.1:c.8588_8590dup	ENSP00000505508.1:p.Glu2863_Ala2864insGlu
ENST00000380152.7:c.8588_8590dup	ENSP00000369497.3:p.Glu2863_Ala2864insGlu
ENST00000528762.1:c.86_88dup	ENSP00000433168.1:p.Glu29_Ala30insGlu
ENST00000544455.5:c.8588_8590dup	ENSP00000439902.1:p.Glu2863_Ala2864insGlu
NM_000059.3:c.8588_8590dup , LRG_293t1:c.8588_8590dup	NP_000050.2:p.Glu2863_Ala2864insGlu
XM_011535203.1:c.8588_8590dup	XP_011533505.1:p.Glu2863_Ala2864insGlu
XM_011535204.1:c.8492_8494dup	XP_011533506.1:p.Glu2831_Ala2832insGlu
XM_011535205.1:c.8588_8590dup	XP_011533507.1:p.Glu2863_Ala2864insGlu
NM_000059.4:c.8588_8590dup MANE Select	NP_000050.3:p.Glu2863_Ala2864insGlu