Canonical Allele Identifier: CA2580087067

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2431296
• ClinVar RCV Id: RCV003140356

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337701_32337702delinsT , CM000675.2:g.32337701_32337702delinsT	GRCh38
NC_000013.10:g.32911838_32911839delinsT , CM000675.1:g.32911838_32911839delinsT	GRCh37
NC_000013.9:g.31809838_31809839delinsT	NCBI36
NG_012772.3:g.27222_27223delinsT , LRG_293:g.27222_27223delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.3346_3347delinsT	ENSP00000434898.2:p.Thr1116LeufsTer3
ENST00000528762.2:c.3346_3347delinsT	ENSP00000433168.2:p.Thr1116LeufsTer3
ENST00000530893.7:c.2977_2978delinsT	ENSP00000499438.2:p.Thr993LeufsTer3
ENST00000665585.2:c.3346_3347delinsT	ENSP00000499570.2:p.Thr1116LeufsTer3
ENST00000666593.2:c.3346_3347delinsT	ENSP00000499256.2:p.Thr1116LeufsTer3
ENST00000700202.2:c.3346_3347delinsT	ENSP00000514856.2:p.Thr1116LeufsTer3
ENST00000380152.8:c.3346_3347delinsT MANE Select	ENSP00000369497.3:p.Thr1116LeufsTer3
ENST00000544455.6:c.3346_3347delinsT	ENSP00000439902.1:p.Thr1116LeufsTer3
ENST00000614259.2:c.3346_3347delinsT	ENSP00000506251.1:p.Thr1116LeufsTer3
ENST00000680887.1:c.3346_3347delinsT	ENSP00000505508.1:p.Thr1116LeufsTer3
ENST00000380152.7:c.3346_3347delinsT	ENSP00000369497.3:p.Thr1116LeufsTer3
ENST00000544455.5:c.3346_3347delinsT	ENSP00000439902.1:p.Thr1116LeufsTer3
ENST00000614259.1:n.3346_3347delinsT
NM_000059.3:c.3346_3347delinsT , LRG_293t1:c.3346_3347delinsT	NP_000050.2:p.Thr1116LeufsTer3
XM_011535203.1:c.3346_3347delinsT	XP_011533505.1:p.Thr1116LeufsTer3
XM_011535204.1:c.3346_3347delinsT	XP_011533506.1:p.Thr1116LeufsTer3
XM_011535205.1:c.3346_3347delinsT	XP_011533507.1:p.Thr1116LeufsTer3
NM_000059.4:c.3346_3347delinsT MANE Select	NP_000050.3:p.Thr1116LeufsTer3