Canonical Allele Identifier: CA2580614646

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2566038
• ClinVar RCV Id: RCV003302178

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330933_32330934delinsC , CM000675.2:g.32330933_32330934delinsC	GRCh38
NC_000013.10:g.32905070_32905071delinsC , CM000675.1:g.32905070_32905071delinsC	GRCh37
NC_000013.9:g.31803070_31803071delinsC	NCBI36
NG_012772.3:g.20454_20455delinsC , LRG_293:g.20454_20455delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.696_697delinsC	ENSP00000434898.2:p.Ser234ProfsTer7
ENST00000528762.2:c.696_697delinsC	ENSP00000433168.2:p.Ser234ProfsTer7
ENST00000530893.7:c.327_328delinsC	ENSP00000499438.2:p.Ser111ProfsTer7
ENST00000665585.2:c.696_697delinsC	ENSP00000499570.2:p.Ser234ProfsTer7
ENST00000666593.2:c.696_697delinsC	ENSP00000499256.2:p.Ser234ProfsTer7
ENST00000700202.2:c.696_697delinsC	ENSP00000514856.2:p.Ser234ProfsTer7
ENST00000700201.1:c.*475_*476delinsC	ENSP00000514855.1:n.*475_*476delinsC
ENST00000380152.8:c.696_697delinsC MANE Select	ENSP00000369497.3:p.Ser234ProfsTer7
ENST00000544455.6:c.696_697delinsC	ENSP00000439902.1:p.Ser234ProfsTer7
ENST00000614259.2:c.696_697delinsC	ENSP00000506251.1:p.Ser234ProfsTer7
ENST00000680887.1:c.696_697delinsC	ENSP00000505508.1:p.Ser234ProfsTer7
ENST00000380152.7:c.696_697delinsC	ENSP00000369497.3:p.Ser234ProfsTer7
ENST00000530893.6:n.894_895delinsC
ENST00000544455.5:c.696_697delinsC	ENSP00000439902.1:p.Ser234ProfsTer7
ENST00000614259.1:n.696_697delinsC
NM_000059.3:c.696_697delinsC , LRG_293t1:c.696_697delinsC	NP_000050.2:p.Ser234ProfsTer7
XM_011535203.1:c.696_697delinsC	XP_011533505.1:p.Ser234ProfsTer7
XM_011535204.1:c.696_697delinsC	XP_011533506.1:p.Ser234ProfsTer7
XM_011535205.1:c.696_697delinsC	XP_011533507.1:p.Ser234ProfsTer7
NM_000059.4:c.696_697delinsC MANE Select	NP_000050.3:p.Ser234ProfsTer7