Canonical Allele Identifier: CA915948609

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 822708
• ClinVar RCV Id: RCV001018277 ; RCV001214868 ; RCV001284591
• dbSNP Id: rs1593936493
• gnomAD v4: 13-32379316-G-GGGTTATTTCAGTGAAGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379317_32379335dup , CM000675.2:g.32379317_32379335dup	GRCh38
NC_000013.10:g.32953454_32953472dup , CM000675.1:g.32953454_32953472dup	GRCh37
NC_000013.9:g.31851454_31851472dup	NCBI36
NG_012772.3:g.68838_68856dup , LRG_293:g.68838_68856dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8755_8773dup	ENSP00000434898.2:p.Gln2925ArgfsTer5
ENST00000528762.2:c.*122_*140dup	ENSP00000433168.2:n.*122_*140dup
ENST00000530893.7:c.8386_8404dup	ENSP00000499438.2:p.Gln2802ArgfsTer5
ENST00000665585.2:c.*317_*335dup	ENSP00000499570.2:n.*317_*335dup
ENST00000666593.2:c.8755_8773dup	ENSP00000499256.2:p.Gln2925ArgfsTer5
ENST00000700202.2:c.8755_8773dup	ENSP00000514856.2:p.Gln2925ArgfsTer5
ENST00000700202.1:c.1222_1240dup	ENSP00000514856.1:p.Gln414ArgfsTer5
ENST00000700203.1:n.882_900dup
ENST00000380152.8:c.8755_8773dup MANE Select	ENSP00000369497.3:p.Gln2925ArgfsTer5
ENST00000544455.6:c.8755_8773dup	ENSP00000439902.1:p.Gln2925ArgfsTer5
ENST00000614259.2:c.8763_8781dup	ENSP00000506251.1:n.8763_8781dup
ENST00000665585.1:c.1633_1651dup
ENST00000680887.1:c.8755_8773dup	ENSP00000505508.1:p.Gln2925ArgfsTer5
ENST00000380152.7:c.8755_8773dup	ENSP00000369497.3:p.Gln2925ArgfsTer5
ENST00000528762.1:c.317_335dup	ENSP00000433168.1:n.317_335dup
ENST00000544455.5:c.8755_8773dup	ENSP00000439902.1:p.Gln2925ArgfsTer5
NM_000059.3:c.8755_8773dup , LRG_293t1:c.8755_8773dup	NP_000050.2:p.Gln2925ArgfsTer5
XM_011535203.1:c.8755_8773dup	XP_011533505.1:p.Gln2925ArgfsTer5
XM_011535204.1:c.8659_8677dup	XP_011533506.1:p.Gln2893ArgfsTer5
XM_011535205.1:c.8755-433_8755-415dup	XP_011533507.1:n.8755-433_8755-415dup
NM_000059.4:c.8755_8773dup MANE Select	NP_000050.3:p.Gln2925ArgfsTer5