Canonical Allele Identifier: CA2580087376
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1763513
ClinVar RCV Id: RCV002447608

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370542_32370545delinsC , CM000675.2:g.32370542_32370545delinsC GRCh38
NC_000013.10:g.32944679_32944682delinsC , CM000675.1:g.32944679_32944682delinsC GRCh37
NC_000013.9:g.31842679_31842682delinsC NCBI36
NG_012772.3:g.60063_60066delinsC , LRG_293:g.60063_60066delinsC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8472_8475delinsC ENSP00000434898.2:p.Arg2824_Ala2825delinsSer
ENST00000528762.2:c.8472_8475delinsC ENSP00000433168.2:p.Arg2824_Ala2825delinsSer
ENST00000530893.7:c.8103_8106delinsC ENSP00000499438.2:p.Arg2701_Ala2702delinsSer
ENST00000665585.2:c.8472_8475delinsC ENSP00000499570.2:p.Arg2824_Ala2825delinsSer
ENST00000666593.2:c.8472_8475delinsC ENSP00000499256.2:p.Arg2824_Ala2825delinsSer
ENST00000700202.2:c.8472_8475delinsC ENSP00000514856.2:p.Arg2824_Ala2825delinsSer
ENST00000700202.1:c.939_942delinsC ENSP00000514856.1:p.Arg313_Ala314delinsSer
ENST00000380152.8:c.8472_8475delinsC MANE Select ENSP00000369497.3:p.Arg2824_Ala2825delinsSer
ENST00000544455.6:c.8472_8475delinsC ENSP00000439902.1:p.Arg2824_Ala2825delinsSer
ENST00000614259.2:c.8480_8483delinsC ENSP00000506251.1:n.8480_8483delinsC
ENST00000665585.1:c.1037_1040delinsC
ENST00000680887.1:c.8472_8475delinsC ENSP00000505508.1:p.Arg2824_Ala2825delinsSer
ENST00000380152.7:c.8472_8475delinsC ENSP00000369497.3:p.Arg2824_Ala2825delinsSer
ENST00000544455.5:c.8472_8475delinsC ENSP00000439902.1:p.Arg2824_Ala2825delinsSer
NM_000059.3:c.8472_8475delinsC , LRG_293t1:c.8472_8475delinsC NP_000050.2:p.Arg2824_Ala2825delinsSer
XM_011535203.1:c.8472_8475delinsC XP_011533505.1:p.Arg2824_Ala2825delinsSer
XM_011535204.1:c.8376_8379delinsC XP_011533506.1:p.Arg2792_Ala2793delinsSer
XM_011535205.1:c.8472_8475delinsC XP_011533507.1:p.Arg2824_Ala2825delinsSer
NM_000059.4:c.8472_8475delinsC MANE Select NP_000050.3:p.Arg2824_Ala2825delinsSer