Canonical Allele Identifier: CA2739277525

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2873269
• ClinVar RCV Id: RCV003644733

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379496_32379497delinsC , CM000675.2:g.32379496_32379497delinsC	GRCh38
NC_000013.10:g.32953633_32953634delinsC , CM000675.1:g.32953633_32953634delinsC	GRCh37
NC_000013.9:g.31851633_31851634delinsC	NCBI36
NG_012772.3:g.69017_69018delinsC , LRG_293:g.69017_69018delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8934_8935delinsC	ENSP00000434898.2:p.Glu2981LysfsTer7
ENST00000528762.2:c.*301_*302delinsC	ENSP00000433168.2:n.*301_*302delinsC
ENST00000530893.7:c.8565_8566delinsC	ENSP00000499438.2:p.Glu2858LysfsTer7
ENST00000665585.2:c.*496_*497delinsC	ENSP00000499570.2:n.*496_*497delinsC
ENST00000666593.2:c.8934_8935delinsC	ENSP00000499256.2:p.Glu2981LysfsTer7
ENST00000700202.2:c.8934_8935delinsC	ENSP00000514856.2:p.Glu2981LysfsTer?
ENST00000700202.1:c.1401_1402delinsC	ENSP00000514856.1:p.Glu470LysfsTer?
ENST00000700203.1:n.1061_1062delinsC
ENST00000380152.8:c.8934_8935delinsC MANE Select	ENSP00000369497.3:p.Glu2981LysfsTer7
ENST00000544455.6:c.8934_8935delinsC	ENSP00000439902.1:p.Glu2981LysfsTer7
ENST00000614259.2:c.8942_8943delinsC	ENSP00000506251.1:n.8942_8943delinsC
ENST00000665585.1:c.1812_1813delinsC
ENST00000680887.1:c.8934_8935delinsC	ENSP00000505508.1:p.Glu2981LysfsTer7
ENST00000380152.7:c.8934_8935delinsC	ENSP00000369497.3:p.Glu2981LysfsTer7
ENST00000544455.5:c.8934_8935delinsC	ENSP00000439902.1:p.Glu2981LysfsTer7
NM_000059.3:c.8934_8935delinsC , LRG_293t1:c.8934_8935delinsC	NP_000050.2:p.Glu2981LysfsTer7
XM_011535203.1:c.8934_8935delinsC	XP_011533505.1:p.Glu2981LysfsTer7
XM_011535204.1:c.8838_8839delinsC	XP_011533506.1:p.Glu2949LysfsTer7
XM_011535205.1:c.8755-254_8755-253delinsC	XP_011533507.1:n.8755-254_8755-253delinsC
NM_000059.4:c.8934_8935delinsC MANE Select	NP_000050.3:p.Glu2981LysfsTer7