Canonical Allele Identifier: CA2580087319

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1744271
• ClinVar RCV Id: RCV002351310

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339295_32339301del , CM000675.2:g.32339295_32339301del	GRCh38
NC_000013.10:g.32913432_32913438del , CM000675.1:g.32913432_32913438del	GRCh37
NC_000013.9:g.31811432_31811438del	NCBI36
NG_012772.3:g.28816_28822del , LRG_293:g.28816_28822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4940_4946del	ENSP00000434898.2:p.Thr1647LysfsTer21
ENST00000528762.2:c.4940_4946del	ENSP00000433168.2:p.Thr1647LysfsTer21
ENST00000530893.7:c.4571_4577del	ENSP00000499438.2:p.Thr1524LysfsTer21
ENST00000665585.2:c.4940_4946del	ENSP00000499570.2:p.Thr1647LysfsTer21
ENST00000666593.2:c.4940_4946del	ENSP00000499256.2:p.Thr1647LysfsTer21
ENST00000700202.2:c.4940_4946del	ENSP00000514856.2:p.Thr1647LysfsTer21
ENST00000380152.8:c.4940_4946del MANE Select	ENSP00000369497.3:p.Thr1647LysfsTer21
ENST00000544455.6:c.4940_4946del	ENSP00000439902.1:p.Thr1647LysfsTer21
ENST00000614259.2:c.4940_4946del	ENSP00000506251.1:p.Thr1647LysfsTer21
ENST00000680887.1:c.4940_4946del	ENSP00000505508.1:p.Thr1647LysfsTer21
ENST00000380152.7:c.4940_4946del	ENSP00000369497.3:p.Thr1647LysfsTer21
ENST00000544455.5:c.4940_4946del	ENSP00000439902.1:p.Thr1647LysfsTer21
ENST00000614259.1:n.4940_4946del
NM_000059.3:c.4940_4946del , LRG_293t1:c.4940_4946del	NP_000050.2:p.Thr1647LysfsTer21
XM_011535203.1:c.4940_4946del	XP_011533505.1:p.Thr1647LysfsTer21
XM_011535204.1:c.4940_4946del	XP_011533506.1:p.Thr1647LysfsTer21
XM_011535205.1:c.4940_4946del	XP_011533507.1:p.Thr1647LysfsTer21
NM_000059.4:c.4940_4946del MANE Select	NP_000050.3:p.Thr1647LysfsTer21