Canonical Allele Identifier: CA2695199710

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2674505
• ClinVar RCV Id: RCV003452700

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379443_32379444del , CM000675.2:g.32379443_32379444del	GRCh38
NC_000013.10:g.32953580_32953581del , CM000675.1:g.32953580_32953581del	GRCh37
NC_000013.9:g.31851580_31851581del	NCBI36
NG_012772.3:g.68964_68965del , LRG_293:g.68964_68965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8881_8882del	ENSP00000434898.2:p.Gly2961PhefsTer?
ENST00000528762.2:c.*248_*249del	ENSP00000433168.2:n.*248_*249del
ENST00000530893.7:c.8512_8513del	ENSP00000499438.2:p.Gly2838PhefsTer?
ENST00000665585.2:c.*443_*444del	ENSP00000499570.2:n.*443_*444del
ENST00000666593.2:c.8881_8882del	ENSP00000499256.2:p.Gly2961PhefsTer?
ENST00000700202.2:c.8881_8882del	ENSP00000514856.2:p.Gly2961PhefsTer?
ENST00000700202.1:c.1348_1349del	ENSP00000514856.1:p.Gly450PhefsTer?
ENST00000700203.1:n.1008_1009del
ENST00000380152.8:c.8881_8882del MANE Select	ENSP00000369497.3:p.Gly2961PhefsTer?
ENST00000544455.6:c.8881_8882del	ENSP00000439902.1:p.Gly2961PhefsTer?
ENST00000614259.2:c.8889_8890del	ENSP00000506251.1:n.8889_8890del
ENST00000665585.1:c.1759_1760del
ENST00000680887.1:c.8881_8882del	ENSP00000505508.1:p.Gly2961PhefsTer?
ENST00000380152.7:c.8881_8882del	ENSP00000369497.3:p.Gly2961PhefsTer?
ENST00000528762.1:c.443_444del	ENSP00000433168.1:n.443_444del
ENST00000544455.5:c.8881_8882del	ENSP00000439902.1:p.Gly2961PhefsTer?
NM_000059.3:c.8881_8882del , LRG_293t1:c.8881_8882del	NP_000050.2:p.Gly2961PhefsTer?
XM_011535203.1:c.8881_8882del	XP_011533505.1:p.Gly2961PhefsTer?
XM_011535204.1:c.8785_8786del	XP_011533506.1:p.Gly2929PhefsTer?
XM_011535205.1:c.8755-307_8755-306del	XP_011533507.1:n.8755-307_8755-306del
NM_000059.4:c.8881_8882del MANE Select	NP_000050.3:p.Gly2961PhefsTer?