Canonical Allele Identifier: CA2538391578
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371002_32371003insTCGC , CM000675.2:g.32371002_32371003insTCGC GRCh38
NC_000013.10:g.32945139_32945140insTCGC , CM000675.1:g.32945139_32945140insTCGC GRCh37
NC_000013.9:g.31843139_31843140insTCGC NCBI36
NG_012772.3:g.60523_60524insTCGC , LRG_293:g.60523_60524insTCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8534_8535insTCGC ENSP00000434898.2:p.Arg2845SerfsTer25
ENST00000528762.2:c.8534_8535insTCGC ENSP00000433168.2:p.Arg2845SerfsTer25
ENST00000530893.7:c.8165_8166insTCGC ENSP00000499438.2:p.Arg2722SerfsTer25
ENST00000665585.2:c.8534_8535insTCGC ENSP00000499570.2:p.Arg2845SerfsTer25
ENST00000666593.2:c.8534_8535insTCGC ENSP00000499256.2:p.Arg2845SerfsTer25
ENST00000700202.2:c.8534_8535insTCGC ENSP00000514856.2:p.Arg2845SerfsTer25
ENST00000700202.1:c.1001_1002insTCGC ENSP00000514856.1:p.Arg334SerfsTer25
ENST00000380152.8:c.8534_8535insTCGC MANE Select ENSP00000369497.3:p.Arg2845SerfsTer25
ENST00000544455.6:c.8534_8535insTCGC ENSP00000439902.1:p.Arg2845SerfsTer25
ENST00000614259.2:c.8542_8543insTCGC ENSP00000506251.1:n.8542_8543insTCGC
ENST00000665585.1:c.1099_1100insTCGC
ENST00000680887.1:c.8534_8535insTCGC ENSP00000505508.1:p.Arg2845SerfsTer25
ENST00000380152.7:c.8534_8535insTCGC ENSP00000369497.3:p.Arg2845SerfsTer25
ENST00000528762.1:c.32_33insTCGC ENSP00000433168.1:p.Arg11SerfsTer25
ENST00000544455.5:c.8534_8535insTCGC ENSP00000439902.1:p.Arg2845SerfsTer25
NM_000059.3:c.8534_8535insTCGC , LRG_293t1:c.8534_8535insTCGC NP_000050.2:p.Arg2845SerfsTer25
XM_011535203.1:c.8534_8535insTCGC XP_011533505.1:p.Arg2845SerfsTer25
XM_011535204.1:c.8438_8439insTCGC XP_011533506.1:p.Arg2813SerfsTer25
XM_011535205.1:c.8534_8535insTCGC XP_011533507.1:p.Arg2845SerfsTer25
NM_000059.4:c.8534_8535insTCGC MANE Select NP_000050.3:p.Arg2845SerfsTer25