Canonical Allele Identifier: CA2533674555
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371016_32371017insCGTCGC , CM000675.2:g.32371016_32371017insCGTCGC GRCh38
NC_000013.10:g.32945153_32945154insCGTCGC , CM000675.1:g.32945153_32945154insCGTCGC GRCh37
NC_000013.9:g.31843153_31843154insCGTCGC NCBI36
NG_012772.3:g.60537_60538insCGTCGC , LRG_293:g.60537_60538insCGTCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8548_8549insCGTCGC ENSP00000434898.2:p.Glu2850delinsAlaSerGln
ENST00000528762.2:c.8548_8549insCGTCGC ENSP00000433168.2:p.Glu2850delinsAlaSerGln
ENST00000530893.7:c.8179_8180insCGTCGC ENSP00000499438.2:p.Glu2727delinsAlaSerGln
ENST00000665585.2:c.8548_8549insCGTCGC ENSP00000499570.2:p.Glu2850delinsAlaSerGln
ENST00000666593.2:c.8548_8549insCGTCGC ENSP00000499256.2:p.Glu2850delinsAlaSerGln
ENST00000700202.2:c.8548_8549insCGTCGC ENSP00000514856.2:p.Glu2850delinsAlaSerGln
ENST00000700202.1:c.1015_1016insCGTCGC ENSP00000514856.1:p.Glu339delinsAlaSerGln
ENST00000380152.8:c.8548_8549insCGTCGC MANE Select ENSP00000369497.3:p.Glu2850delinsAlaSerGln
ENST00000544455.6:c.8548_8549insCGTCGC ENSP00000439902.1:p.Glu2850delinsAlaSerGln
ENST00000614259.2:c.8556_8557insCGTCGC ENSP00000506251.1:n.8556_8557insCGTCGC
ENST00000665585.1:c.1113_1114insCGTCGC
ENST00000680887.1:c.8548_8549insCGTCGC ENSP00000505508.1:p.Glu2850delinsAlaSerGln
ENST00000380152.7:c.8548_8549insCGTCGC ENSP00000369497.3:p.Glu2850delinsAlaSerGln
ENST00000528762.1:c.46_47insCGTCGC ENSP00000433168.1:p.Glu16delinsAlaSerGln
ENST00000544455.5:c.8548_8549insCGTCGC ENSP00000439902.1:p.Glu2850delinsAlaSerGln
NM_000059.3:c.8548_8549insCGTCGC , LRG_293t1:c.8548_8549insCGTCGC NP_000050.2:p.Glu2850delinsAlaSerGln
XM_011535203.1:c.8548_8549insCGTCGC XP_011533505.1:p.Glu2850delinsAlaSerGln
XM_011535204.1:c.8452_8453insCGTCGC XP_011533506.1:p.Glu2818delinsAlaSerGln
XM_011535205.1:c.8548_8549insCGTCGC XP_011533507.1:p.Glu2850delinsAlaSerGln
NM_000059.4:c.8548_8549insCGTCGC MANE Select NP_000050.3:p.Glu2850delinsAlaSerGln