Canonical Allele Identifier: CA2580087434

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1764454
• ClinVar RCV Id: RCV002373482

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376762_32376768del , CM000675.2:g.32376762_32376768del	GRCh38
NC_000013.10:g.32950899_32950905del , CM000675.1:g.32950899_32950905del	GRCh37
NC_000013.9:g.31848899_31848905del	NCBI36
NG_012772.3:g.66283_66289del , LRG_293:g.66283_66289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8725_8731del	ENSP00000434898.2:p.Lys2909GlnfsTer16
ENST00000528762.2:c.*92_*98del	ENSP00000433168.2:n.*92_*98del
ENST00000530893.7:c.8356_8362del	ENSP00000499438.2:p.Lys2786GlnfsTer16
ENST00000665585.2:c.*287_*293del	ENSP00000499570.2:n.*287_*293del
ENST00000666593.2:c.8725_8731del	ENSP00000499256.2:p.Lys2909GlnfsTer16
ENST00000700202.2:c.8725_8731del	ENSP00000514856.2:p.Lys2909GlnfsTer16
ENST00000700202.1:c.1192_1198del	ENSP00000514856.1:p.Lys398GlnfsTer16
ENST00000700203.1:n.852_858del
ENST00000380152.8:c.8725_8731del MANE Select	ENSP00000369497.3:p.Lys2909GlnfsTer16
ENST00000544455.6:c.8725_8731del	ENSP00000439902.1:p.Lys2909GlnfsTer16
ENST00000614259.2:c.8733_8739del	ENSP00000506251.1:n.8733_8739del
ENST00000665585.1:c.1603_1609del
ENST00000680887.1:c.8725_8731del	ENSP00000505508.1:p.Lys2909GlnfsTer16
ENST00000380152.7:c.8725_8731del	ENSP00000369497.3:p.Lys2909GlnfsTer16
ENST00000528762.1:c.287_293del	ENSP00000433168.1:n.287_293del
ENST00000544455.5:c.8725_8731del	ENSP00000439902.1:p.Lys2909GlnfsTer16
NM_000059.3:c.8725_8731del , LRG_293t1:c.8725_8731del	NP_000050.2:p.Lys2909GlnfsTer16
XM_011535203.1:c.8725_8731del	XP_011533505.1:p.Lys2909GlnfsTer16
XM_011535204.1:c.8629_8635del	XP_011533506.1:p.Lys2877GlnfsTer16
XM_011535205.1:c.8725_8731del	XP_011533507.1:p.Lys2909GlnfsTer?
NM_000059.4:c.8725_8731del MANE Select	NP_000050.3:p.Lys2909GlnfsTer16