Canonical Allele Identifier: CA2580087472

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2032652
• ClinVar RCV Id: RCV002881333

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379503_32379507del , CM000675.2:g.32379503_32379507del	GRCh38
NC_000013.10:g.32953640_32953644del , CM000675.1:g.32953640_32953644del	GRCh37
NC_000013.9:g.31851640_31851644del	NCBI36
NG_012772.3:g.69024_69028del , LRG_293:g.69024_69028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8941_8945del	ENSP00000434898.2:p.Glu2981ArgfsTer?
ENST00000528762.2:c.*308_*312del	ENSP00000433168.2:n.*308_*312del
ENST00000530893.7:c.8572_8576del	ENSP00000499438.2:p.Glu2858ArgfsTer?
ENST00000665585.2:c.*503_*507del	ENSP00000499570.2:n.*503_*507del
ENST00000666593.2:c.8941_8945del	ENSP00000499256.2:p.Glu2981ArgfsTer?
ENST00000700202.2:c.8941_8945del	ENSP00000514856.2:p.Glu2981ArgfsTer18
ENST00000700202.1:c.1408_1412del	ENSP00000514856.1:p.Glu470ArgfsTer18
ENST00000700203.1:n.1068_1072del
ENST00000380152.8:c.8941_8945del MANE Select	ENSP00000369497.3:p.Glu2981ArgfsTer?
ENST00000544455.6:c.8941_8945del	ENSP00000439902.1:p.Glu2981ArgfsTer?
ENST00000614259.2:c.8949_8953del	ENSP00000506251.1:n.8949_8953del
ENST00000665585.1:c.1819_1823del
ENST00000680887.1:c.8941_8945del	ENSP00000505508.1:p.Glu2981ArgfsTer?
ENST00000380152.7:c.8941_8945del	ENSP00000369497.3:p.Glu2981ArgfsTer?
ENST00000544455.5:c.8941_8945del	ENSP00000439902.1:p.Glu2981ArgfsTer?
NM_000059.3:c.8941_8945del , LRG_293t1:c.8941_8945del	NP_000050.2:p.Glu2981ArgfsTer?
XM_011535203.1:c.8941_8945del	XP_011533505.1:p.Glu2981ArgfsTer?
XM_011535204.1:c.8845_8849del	XP_011533506.1:p.Glu2949ArgfsTer?
XM_011535205.1:c.8755-247_8755-243del	XP_011533507.1:n.8755-247_8755-243del
NM_000059.4:c.8941_8945del MANE Select	NP_000050.3:p.Glu2981ArgfsTer?