Canonical Allele Identifier: CA2573149227

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1454162
• ClinVar RCV Id: RCV001939423
• dbSNP Id: rs2137619603

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379391_32379392del , CM000675.2:g.32379391_32379392del	GRCh38
NC_000013.10:g.32953528_32953529del , CM000675.1:g.32953528_32953529del	GRCh37
NC_000013.9:g.31851528_31851529del	NCBI36
NG_012772.3:g.68912_68913del , LRG_293:g.68912_68913del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8829_8830del	ENSP00000434898.2:p.Gln2943HisfsTer6
ENST00000528762.2:c.*196_*197del	ENSP00000433168.2:n.*196_*197del
ENST00000530893.7:c.8460_8461del	ENSP00000499438.2:p.Gln2820HisfsTer6
ENST00000665585.2:c.*391_*392del	ENSP00000499570.2:n.*391_*392del
ENST00000666593.2:c.8829_8830del	ENSP00000499256.2:p.Gln2943HisfsTer6
ENST00000700202.2:c.8829_8830del	ENSP00000514856.2:p.Gln2943HisfsTer6
ENST00000700202.1:c.1296_1297del	ENSP00000514856.1:p.Gln432HisfsTer6
ENST00000700203.1:n.956_957del
ENST00000380152.8:c.8829_8830del MANE Select	ENSP00000369497.3:p.Gln2943HisfsTer6
ENST00000544455.6:c.8829_8830del	ENSP00000439902.1:p.Gln2943HisfsTer6
ENST00000614259.2:c.8837_8838del	ENSP00000506251.1:n.8837_8838del
ENST00000665585.1:c.1707_1708del
ENST00000680887.1:c.8829_8830del	ENSP00000505508.1:p.Gln2943HisfsTer6
ENST00000380152.7:c.8829_8830del	ENSP00000369497.3:p.Gln2943HisfsTer6
ENST00000528762.1:c.391_392del	ENSP00000433168.1:n.391_392del
ENST00000544455.5:c.8829_8830del	ENSP00000439902.1:p.Gln2943HisfsTer6
NM_000059.3:c.8829_8830del , LRG_293t1:c.8829_8830del	NP_000050.2:p.Gln2943HisfsTer6
XM_011535203.1:c.8829_8830del	XP_011533505.1:p.Gln2943HisfsTer6
XM_011535204.1:c.8733_8734del	XP_011533506.1:p.Gln2911HisfsTer6
XM_011535205.1:c.8755-359_8755-358del	XP_011533507.1:n.8755-359_8755-358del
NM_000059.4:c.8829_8830del MANE Select	NP_000050.3:p.Gln2943HisfsTer6