Canonical Allele Identifier: CA16619779
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421671
ClinVar RCV Id: RCV000478757
dbSNP Id: rs1064795286

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370414_32370421delinsCA , CM000675.2:g.32370414_32370421delinsCA GRCh38
NC_000013.10:g.32944551_32944558delinsCA , CM000675.1:g.32944551_32944558delinsCA GRCh37
NC_000013.9:g.31842551_31842558delinsCA NCBI36
NG_012772.3:g.59935_59942delinsCA , LRG_293:g.59935_59942delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8344_8351delinsCA ENSP00000434898.2:p.Ser2782_Arg2784delins...
ENST00000528762.2:c.8344_8351delinsCA ENSP00000433168.2:p.Ser2782_Arg2784delins...
ENST00000530893.7:c.7975_7982delinsCA ENSP00000499438.2:p.Ser2659_Arg2661delins...
ENST00000665585.2:c.8344_8351delinsCA ENSP00000499570.2:p.Ser2782_Arg2784delins...
ENST00000666593.2:c.8344_8351delinsCA ENSP00000499256.2:p.Ser2782_Arg2784delins...
ENST00000700202.2:c.8344_8351delinsCA ENSP00000514856.2:p.Ser2782_Arg2784delins...
ENST00000700202.1:c.811_818delinsCA ENSP00000514856.1:p.Ser271_Arg273delinsGl...
ENST00000380152.8:c.8344_8351delinsCA MANE Select ENSP00000369497.3:p.Ser2782_Arg2784delins...
ENST00000544455.6:c.8344_8351delinsCA ENSP00000439902.1:p.Ser2782_Arg2784delins...
ENST00000614259.2:c.8352_8359delinsCA ENSP00000506251.1:n.8352_8359delinsCA
ENST00000665585.1:c.909_916delinsCA
ENST00000680887.1:c.8344_8351delinsCA ENSP00000505508.1:p.Ser2782_Arg2784delins...
ENST00000380152.7:c.8344_8351delinsCA ENSP00000369497.3:p.Ser2782_Arg2784delins...
ENST00000544455.5:c.8344_8351delinsCA ENSP00000439902.1:p.Ser2782_Arg2784delins...
NM_000059.3:c.8344_8351delinsCA , LRG_293t1:c.8344_8351delinsCA NP_000050.2:p.Ser2782_Arg2784delinsGln
XM_011535203.1:c.8344_8351delinsCA XP_011533505.1:p.Ser2782_Arg2784delinsGln...
XM_011535204.1:c.8248_8255delinsCA XP_011533506.1:p.Ser2750_Arg2752delinsGln...
XM_011535205.1:c.8344_8351delinsCA XP_011533507.1:p.Ser2782_Arg2784delinsGln...
NM_000059.4:c.8344_8351delinsCA MANE Select NP_000050.3:p.Ser2782_Arg2784delinsGln