Canonical Allele Identifier: CA2082767594
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332866_32332868delinsCAG , CM000675.2:g.32332866_32332868delinsCAG GRCh38
NC_000013.10:g.32907003_32907005delinsCAG , CM000675.1:g.32907003_32907005delinsCAG GRCh37
NC_000013.9:g.31805003_31805005delinsCAG NCBI36
NG_012772.3:g.22387_22389delinsCAG , LRG_293:g.22387_22389delinsCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1388_1390delinsCAG ENSP00000434898.2:p.Thr463=
ENST00000528762.2:c.1388_1390delinsCAG ENSP00000433168.2:p.Thr463=
ENST00000530893.7:c.1019_1021delinsCAG ENSP00000499438.2:p.Thr340=
ENST00000665585.2:c.1388_1390delinsCAG ENSP00000499570.2:p.Thr463=
ENST00000666593.2:c.1388_1390delinsCAG ENSP00000499256.2:p.Thr463=
ENST00000700202.2:c.1388_1390delinsCAG ENSP00000514856.2:p.Thr463=
ENST00000700201.1:c.*1167_*1169delinsCAG ENSP00000514855.1:n.*1167_*1169delinsCAG
ENST00000380152.8:c.1388_1390delinsCAG MANE Select ENSP00000369497.3:p.Thr463=
ENST00000544455.6:c.1388_1390delinsCAG ENSP00000439902.1:p.Thr463=
ENST00000614259.2:c.1388_1390delinsCAG ENSP00000506251.1:p.Thr463=
ENST00000680887.1:c.1388_1390delinsCAG ENSP00000505508.1:p.Thr463=
ENST00000380152.7:c.1388_1390delinsCAG ENSP00000369497.3:p.Thr463=
ENST00000530893.6:n.1586_1588delinsCAG
ENST00000544455.5:c.1388_1390delinsCAG ENSP00000439902.1:p.Thr463=
ENST00000614259.1:n.1388_1390delinsCAG
NM_000059.3:c.1388_1390delinsCAG , LRG_293t1:c.1388_1390delinsCAG NP_000050.2:p.Thr463=
XM_011535203.1:c.1388_1390delinsCAG XP_011533505.1:p.Thr463=
XM_011535204.1:c.1388_1390delinsCAG XP_011533506.1:p.Thr463=
XM_011535205.1:c.1388_1390delinsCAG XP_011533507.1:p.Thr463=
NM_000059.4:c.1388_1390delinsCAG MANE Select NP_000050.3:p.Thr463=