Canonical Allele Identifier: CA2580087461

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2128129
• ClinVar RCV Id: RCV003055842

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379390_32379391delinsGA , CM000675.2:g.32379390_32379391delinsGA	GRCh38
NC_000013.10:g.32953527_32953528delinsGA , CM000675.1:g.32953527_32953528delinsGA	GRCh37
NC_000013.9:g.31851527_31851528delinsGA	NCBI36
NG_012772.3:g.68911_68912delinsGA , LRG_293:g.68911_68912delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8828_8829delinsGA	ENSP00000434898.2:p.Gln2943Arg
ENST00000528762.2:c.*195_*196delinsGA	ENSP00000433168.2:n.*195_*196delinsGA
ENST00000530893.7:c.8459_8460delinsGA	ENSP00000499438.2:p.Gln2820Arg
ENST00000665585.2:c.*390_*391delinsGA	ENSP00000499570.2:n.*390_*391delinsGA
ENST00000666593.2:c.8828_8829delinsGA	ENSP00000499256.2:p.Gln2943Arg
ENST00000700202.2:c.8828_8829delinsGA	ENSP00000514856.2:p.Gln2943Arg
ENST00000700202.1:c.1295_1296delinsGA	ENSP00000514856.1:p.Gln432Arg
ENST00000700203.1:n.955_956delinsGA
ENST00000380152.8:c.8828_8829delinsGA MANE Select	ENSP00000369497.3:p.Gln2943Arg
ENST00000544455.6:c.8828_8829delinsGA	ENSP00000439902.1:p.Gln2943Arg
ENST00000614259.2:c.8836_8837delinsGA	ENSP00000506251.1:n.8836_8837delinsGA
ENST00000665585.1:c.1706_1707delinsGA
ENST00000680887.1:c.8828_8829delinsGA	ENSP00000505508.1:p.Gln2943Arg
ENST00000380152.7:c.8828_8829delinsGA	ENSP00000369497.3:p.Gln2943Arg
ENST00000528762.1:c.390_391delinsGA	ENSP00000433168.1:n.390_391delinsGA
ENST00000544455.5:c.8828_8829delinsGA	ENSP00000439902.1:p.Gln2943Arg
NM_000059.3:c.8828_8829delinsGA , LRG_293t1:c.8828_8829delinsGA	NP_000050.2:p.Gln2943Arg
XM_011535203.1:c.8828_8829delinsGA	XP_011533505.1:p.Gln2943Arg
XM_011535204.1:c.8732_8733delinsGA	XP_011533506.1:p.Gln2911Arg
XM_011535205.1:c.8755-360_8755-359delinsGA	XP_011533507.1:n.8755-360_8755-359delinsGA
NM_000059.4:c.8828_8829delinsGA MANE Select	NP_000050.3:p.Gln2943Arg