Canonical Allele Identifier: CA2082832002
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362660_32362661delinsGC , CM000675.2:g.32362660_32362661delinsGC GRCh38
NC_000013.10:g.32936797_32936798delinsGC , CM000675.1:g.32936797_32936798delinsGC GRCh37
NC_000013.9:g.31834797_31834798delinsGC NCBI36
NG_012772.3:g.52181_52182delinsGC , LRG_293:g.52181_52182delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7943_7944delinsGC ENSP00000434898.2:p.Ser2648=
ENST00000528762.2:c.7943_7944delinsGC ENSP00000433168.2:p.Ser2648=
ENST00000530893.7:c.7574_7575delinsGC ENSP00000499438.2:p.Ser2525=
ENST00000665585.2:c.7943_7944delinsGC ENSP00000499570.2:p.Ser2648=
ENST00000666593.2:c.7943_7944delinsGC ENSP00000499256.2:p.Ser2648=
ENST00000700202.2:c.7943_7944delinsGC ENSP00000514856.2:p.Ser2648=
ENST00000700202.1:c.410_411delinsGC ENSP00000514856.1:p.Ser137=
ENST00000380152.8:c.7943_7944delinsGC MANE Select ENSP00000369497.3:p.Ser2648=
ENST00000544455.6:c.7943_7944delinsGC ENSP00000439902.1:p.Ser2648=
ENST00000614259.2:c.7951_7952delinsGC ENSP00000506251.1:n.7951_7952delinsGC
ENST00000665585.1:c.508_509delinsGC
ENST00000680887.1:c.7943_7944delinsGC ENSP00000505508.1:p.Ser2648=
ENST00000380152.7:c.7943_7944delinsGC ENSP00000369497.3:p.Ser2648=
ENST00000544455.5:c.7943_7944delinsGC ENSP00000439902.1:p.Ser2648=
NM_000059.3:c.7943_7944delinsGC , LRG_293t1:c.7943_7944delinsGC NP_000050.2:p.Ser2648=
XM_011535203.1:c.7943_7944delinsGC XP_011533505.1:p.Ser2648=
XM_011535204.1:c.7847_7848delinsGC XP_011533506.1:p.Ser2616=
XM_011535205.1:c.7943_7944delinsGC XP_011533507.1:p.Ser2648=
NM_000059.4:c.7943_7944delinsGC MANE Select NP_000050.3:p.Ser2648=