Canonical Allele Identifier: CA645509067

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 438996
• ClinVar RCV Id: RCV002367694
• dbSNP Id: rs1555284655

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340728_32340729delinsG , CM000675.2:g.32340728_32340729delinsG	GRCh38
NC_000013.10:g.32914865_32914866delinsG , CM000675.1:g.32914865_32914866delinsG	GRCh37
NC_000013.9:g.31812865_31812866delinsG	NCBI36
NG_012772.3:g.30249_30250delinsG , LRG_293:g.30249_30250delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6373_6374delinsG	ENSP00000434898.2:p.Thr2125AlafsTer12
ENST00000528762.2:c.6373_6374delinsG	ENSP00000433168.2:p.Thr2125AlafsTer12
ENST00000530893.7:c.6004_6005delinsG	ENSP00000499438.2:p.Thr2002AlafsTer12
ENST00000665585.2:c.6373_6374delinsG	ENSP00000499570.2:p.Thr2125AlafsTer12
ENST00000666593.2:c.6373_6374delinsG	ENSP00000499256.2:p.Thr2125AlafsTer12
ENST00000700202.2:c.6373_6374delinsG	ENSP00000514856.2:p.Thr2125AlafsTer12
ENST00000380152.8:c.6373_6374delinsG MANE Select	ENSP00000369497.3:p.Thr2125AlafsTer12
ENST00000544455.6:c.6373_6374delinsG	ENSP00000439902.1:p.Thr2125AlafsTer12
ENST00000614259.2:c.6373_6374delinsG	ENSP00000506251.1:p.Thr2125AlafsTer12
ENST00000680887.1:c.6373_6374delinsG	ENSP00000505508.1:p.Thr2125AlafsTer12
ENST00000380152.7:c.6373_6374delinsG	ENSP00000369497.3:p.Thr2125AlafsTer12
ENST00000544455.5:c.6373_6374delinsG	ENSP00000439902.1:p.Thr2125AlafsTer12
ENST00000614259.1:n.6373_6374delinsG
NM_000059.3:c.6373_6374delinsG , LRG_293t1:c.6373_6374delinsG	NP_000050.2:p.Thr2125AlafsTer12
XM_011535203.1:c.6373_6374delinsG	XP_011533505.1:p.Thr2125AlafsTer12
XM_011535204.1:c.6373_6374delinsG	XP_011533506.1:p.Thr2125AlafsTer12
XM_011535205.1:c.6373_6374delinsG	XP_011533507.1:p.Thr2125AlafsTer12
NM_000059.4:c.6373_6374delinsG MANE Select	NP_000050.3:p.Thr2125AlafsTer12